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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introdu&#231;&#227;o</span><p id="par0005" class="elsevierStylePara elsevierViewall">Nos &#250;ltimos anos&#44; tem sido reconhecida a crescente import&#226;ncia das causas gen&#233;ticas nas doen&#231;as cardiovasculares e os progressos t&#233;cnicos t&#234;m permitido detalhar muitos dos mecanismos moleculares subjacentes&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">Os enormes avan&#231;os das t&#233;cnicas de sequencia&#231;&#227;o gen&#233;tica &#40;<span class="elsevierStyleItalic">next&#8208;generation sequencing</span> &#8211; NGS&#41; aumentaram a capacidade de diagn&#243;stico molecular&#44; mas&#44; em muitos casos&#44; &#224; custa da dete&#231;&#227;o de variantes gen&#233;ticas de significado &#40;ainda&#41; incerto&#44; que condicionam o aconselhamento gen&#233;tico familiar&#46; Neste contexto&#44; torna&#8208;se fundamental que os cardiologistas e outros profissionais envolvidos na orienta&#231;&#227;o destes doentes&#47;fam&#237;lia estejam familiarizados com as indica&#231;&#245;es&#44; vantagens e limita&#231;&#245;es dos testes gen&#233;ticos&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Ao longo deste documento&#44; descrevem&#8208;se as principais indica&#231;&#245;es para testes gen&#233;ticos das principais s&#237;ndromes&#47;doen&#231;as cardiovasculares heredit&#225;rias e para os testes gen&#233;ticos <span class="elsevierStyleItalic">post mortem&#46;</span></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Recomenda&#231;&#245;es gerais</span><p id="par0020" class="elsevierStylePara elsevierViewall">Sempre que apropriado&#44; os m&#233;dicos devem informar aqueles que os consultam sobre os mecanismos de hereditariedade da doen&#231;a em causa e quais as implica&#231;&#245;es para os seus familiares e de os orientar para uma consulta de gen&#233;tica m&#233;dica&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">O aconselhamento gen&#233;tico deve ser sempre efetuado antes e ap&#243;s um teste gen&#233;tico&#44; garantindo que os doentes compreendam todos os benef&#237;cios e as limita&#231;&#245;es dos resultados&#44; sendo que o teste gen&#233;tico s&#243; deve ser realizado ap&#243;s o consentimento informado do pr&#243;prio&#46; A comunica&#231;&#227;o dos resultados deve ser feita exclusivamente ao pr&#243;prio doente&#46;</p><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Menores</span><p id="par0030" class="elsevierStylePara elsevierViewall">No caso de menores de idade&#44; s&#243; podem ser pedidos testes gen&#233;ticos se houver benef&#237;cio imediato para estes&#44; com o consentimento informado dos seus pais ou tutores&#44; sendo de real&#231;ar que n&#227;o podem ser pedidos testes preditivos para doen&#231;as de in&#237;cio habitual na vida adulta&#44; sem preven&#231;&#227;o ou cura comprovadamente eficazes&#46; Sempre que adequado o&#47;a menor dever&#225; ser envolvido&#47;a na propor&#231;&#227;o da sua autonomia&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Testes pr&#233;&#8208;sintom&#225;ticos</span><p id="par0035" class="elsevierStylePara elsevierViewall">Consideram&#8208;se testes pr&#233;&#8208;sintom&#225;ticos os que permitam a identifica&#231;&#227;o da pessoa como portadora&#44; ainda que assintom&#225;tica&#44; de altera&#231;&#227;o gen&#233;tica inequivocamente respons&#225;vel por dada patologia&#46; Em pessoas saud&#225;veis&#44; o teste pr&#233;&#8208;sintom&#225;tico s&#243; pode ser executado no &#226;mbito de uma consulta de gen&#233;tica m&#233;dica&#44; na sequ&#234;ncia de aconselhamento gen&#233;tico&#44; ap&#243;s consentimento informado&#44; escrito&#46; Tamb&#233;m neste contexto&#44; os resultados devem ser comunicados ao pr&#243;prio e n&#227;o podem ser comunicados a terceiros&#44; incluindo m&#233;dicos n&#227;o envolvidos no processo de teste dessa pessoa&#47;fam&#237;lia&#44; sem autoriza&#231;&#227;o escrita&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Os testes gen&#233;ticos encontram&#8208;se legislados no Decreto&#8208;Lei 12&#47;2005 de 26 de janeiro&#44; do qual se apresentam os excertos mais relevantes nos suplementos &#40;Supl&#46;1&#41;&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">Os principais testes utilizados na pr&#225;tica cl&#237;nica e a lista de genes citados ao longo do documento de abreviaturas utilizadas encontram&#8208;se em suplementos &#40;Supl&#46;2&#8208;4&#41;&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Classifica&#231;&#227;o das variantes gen&#233;ticas</span><p id="par0050" class="elsevierStylePara elsevierViewall">As variantes devem ser classificadas em cinco categorias&#58; patog&#233;nicas&#44; provavelmente patog&#233;nicas&#44; de significado incerto &#40;VSI&#41;&#44; provavelmente benignas&#44; benignas<a class="elsevierStyleCrossRef" href="#bib0450"><span class="elsevierStyleSup">1</span></a>&#46; De notar que apenas as variantes patog&#233;nicas e provavelmente patog&#233;nicas devem ser utilizadas para orientar o seguimento diferenciado e disponibilizar estudo de portador a familiares assintom&#225;ticos em risco&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">N&#237;veis de recomenda&#231;&#227;o</span><p id="par0055" class="elsevierStylePara elsevierViewall">A maioria da informa&#231;&#227;o dispon&#237;vel deriva de registos e de estudos n&#227;o aleatorizados &#8211; n&#237;vel de evid&#234;ncia <span class="elsevierStyleSmallCaps">C</span>&#46; Os n&#237;veis de recomenda&#231;&#227;o usados ao longo deste documento s&#227;o apresentados no material suplementar &#40;Supl&#46;5&#41;&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Testes gen&#233;ticos em familiares</span><p id="par0060" class="elsevierStylePara elsevierViewall">Ap&#243;s a identifica&#231;&#227;o de uma variante gen&#233;tica espec&#237;fica&#44; patog&#233;nica ou provavelmente patog&#233;nica&#44; num caso &#237;ndice&#44; &#233; uma indica&#231;&#227;o classe I<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">2&#44;3</span></a>&#44; comum a todas as doen&#231;as card&#237;acas heredit&#225;rias&#44; a realiza&#231;&#227;o de teste gen&#233;tico em familiares&#44; conjuntamente com aconselhamento gen&#233;tico&#44; antes e ap&#243;s o teste gen&#233;tico&#46;</p></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Canalopatias</span><p id="par0065" class="elsevierStylePara elsevierViewall">As canalopatias s&#227;o doen&#231;as el&#233;tricas prim&#225;rias do cora&#231;&#227;o&#44; que n&#227;o se acompanham de altera&#231;&#245;es macrosc&#243;picas ou histopatol&#243;gicas identific&#225;veis pelas metodologias habituais&#44; dado que as altera&#231;&#245;es funcionais e estruturais se situam a n&#237;vel molecular&#44; na membrana celular<a class="elsevierStyleCrossRef" href="#bib0465"><span class="elsevierStyleSup">4</span></a>&#46; S&#227;o um grupo heterog&#233;neo de patologias nas quais variantes patog&#233;nicas nos genes que codificam os canais i&#243;nicos originam altera&#231;&#245;es das correntes i&#243;nicas envolvidas no potencial de a&#231;&#227;o das c&#233;lulas card&#237;acas&#44; conduzindo a arritmias potencialmente fatais<a class="elsevierStyleCrossRefs" href="#bib0470"><span class="elsevierStyleSup">5&#44;6</span></a>&#46;</p><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">S&#237;ndromes da onda J</span><p id="par0070" class="elsevierStylePara elsevierViewall">As s&#237;ndromes da onda J referem&#8208;se a situa&#231;&#245;es em que a acentua&#231;&#227;o da onda&#47;ponto J no ECG est&#225; associada a um risco acrescido de arritmias ventriculares<a class="elsevierStyleCrossRef" href="#bib0480"><span class="elsevierStyleSup">7</span></a>&#46; A s&#237;ndrome de Brugada &#40;SBr&#41; e a s&#237;ndrome de repolariza&#231;&#227;o precoce &#40;SRP&#41; s&#227;o duas manifesta&#231;&#245;es destas s&#237;ndromes&#44; estando associadas ao desenvolvimento de taquicardia ventricular &#40;TV&#41; polim&#243;rfica&#44; fibrilha&#231;&#227;o ventricular &#40;FV&#41; e&#44; potencialmente&#44; a morte s&#250;bita &#40;MS&#41;<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46; As altera&#231;&#245;es na onda&#47;ponto J ocorrem em diferentes deriva&#231;&#245;es do ECG &#8211; na SBr nas deriva&#231;&#245;es pr&#233;&#8208;cordiais direitas&#44; na SRP essencialmente nas inferiores e laterais<a class="elsevierStyleCrossRefs" href="#bib0480"><span class="elsevierStyleSup">7&#44;8</span></a>&#46;</p></span><span id="sec0050" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">S&#237;ndrome de Brugada</span><span id="sec0055" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Diagn&#243;stico cl&#237;nico</span><p id="par0075" class="elsevierStylePara elsevierViewall">A SBr &#233; diagnosticada em doentes com padr&#227;o eletrocardiogr&#225;fico de tipo 1 &#40;eleva&#231;&#227;o do segmento ST &#8805;2<span class="elsevierStyleHsp" style=""></span>mm&#44; em c&#250;pula &#40;<span class="elsevierStyleItalic">coved type</span>&#41;&#44; numa ou mais deriva&#231;&#245;es pr&#233;&#8208;cordiais direitas&#44; V1 e&#47;ou V2&#44; posicionadas no 2&#46;&#176;&#44; 3&#46;&#176; ou 4&#46;&#176; espa&#231;o intercostal&#41;&#44; espontaneamente ou ap&#243;s teste de provoca&#231;&#227;o com f&#225;rmacos bloqueadores dos canais de s&#243;dio &#40;como flecainida ou ajmalina&#41;<a class="elsevierStyleCrossRefs" href="#bib0485"><span class="elsevierStyleSup">8&#8211;10</span></a>&#46;</p><p id="par0080" class="elsevierStylePara elsevierViewall">Para evitar o sobrediagn&#243;stico&#44; est&#225; recomendado que nos casos em que a documenta&#231;&#227;o do padr&#227;o eletrocardiogr&#225;fico de tipo 1 tenha sido obtida apenas ap&#243;s provoca&#231;&#227;o farmacol&#243;gica&#44; para o diagn&#243;stico de SBr exista adicionalmente pelo menos um dos seguintes crit&#233;rios&#58; a&#41; FV &#47;TV polim&#243;rfica&#59; b&#41; s&#237;ncope de prov&#225;vel causa arr&#237;tmica&#59; c&#41; hist&#243;ria familiar de MS antes dos 45 anos na presen&#231;a de aut&#243;psia negativa&#59; d&#41; padr&#227;o eletrocardiogr&#225;fico de tipo 1 em familiares&#59; e&#41; respira&#231;&#227;o ag&#243;nica noturna&#59; f&#41; indutibilidade de FV&#47;TV<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46; Na Tabela S1 &#40;Supl&#46;6&#41; apresenta&#8208;se um <span class="elsevierStyleItalic">score</span> diagn&#243;stico para a SBr<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46;</p></span><span id="sec0060" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Diagn&#243;stico gen&#233;tico</span><p id="par0085" class="elsevierStylePara elsevierViewall">A SBr tem sido associada a variantes gen&#233;ticas em m&#250;ltiplos genes&#44; que codificam principalmente canais de s&#243;dio &#40;<span class="elsevierStyleItalic">SCN5A</span> em 11&#8208;28&#37; dos probandos&#44; <span class="elsevierStyleItalic">SCN10A</span> em 5&#8208;17&#37;&#41; e de c&#225;lcio &#40;<span class="elsevierStyleItalic">CACNA1C</span> em 7&#37; e <span class="elsevierStyleItalic">CACNB2b</span> em 5&#37;&#41;<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico n&#227;o &#233; necess&#225;rio para o diagn&#243;stico&#44; podendo&#44; contudo&#44; ser &#250;til na confirma&#231;&#227;o do diagn&#243;stico em doentes com fen&#243;tipos duvidosos e em doentes com SBr estabelecida &#40;classe IIb&#91;3&#93; &#47; IIa&#91;2&#93;&#41;&#44; particularmente para facilitar o rastreio gen&#233;tico familiar &#40;classe IIb&#91;3&#93;&#41; &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Tabela 1</a>&#41;&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span></span><span id="sec0065" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">S&#237;ndrome de repolariza&#231;&#227;o precoce</span><span id="sec0070" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Diagn&#243;stico cl&#237;nico</span><p id="par0095" class="elsevierStylePara elsevierViewall">A SRP &#233; diagnosticada em pacientes com padr&#227;o de repolariza&#231;&#227;o precoce nas deriva&#231;&#245;es inferiores e&#47;ou laterais e hist&#243;ria de MS abortada&#44; FV ou TV polim&#243;rfica documentadas<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46; O padr&#227;o de repolariza&#231;&#227;o precoce &#233; definido pela presen&#231;a de 1&#41; entalhe na por&#231;&#227;o final do QRS &#40;onda J&#41; ou de empastamento no ramo descendente na onda R&#44; com ou sem eleva&#231;&#227;o do segmento ST&#59; 2&#41; pico da onda J &#8805;0&#44;1<span class="elsevierStyleHsp" style=""></span>mV em &#8805;2 deriva&#231;&#245;es cont&#237;guas&#44; exceto V1&#8208;3&#59; e 3&#41; dura&#231;&#227;o do QRS &#40;medida em deriva&#231;&#245;es sem entalhe ou empastamento do QRS&#41; &#60;120<span class="elsevierStyleHsp" style=""></span>ms <a class="elsevierStyleCrossRef" href="#bib0500"><span class="elsevierStyleSup">11</span></a>&#46; Na Tabela S2 &#40;Supl&#46;6&#41;&#44; apresenta&#8208;se um <span class="elsevierStyleItalic">score</span> de diagn&#243;stico da SRP<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a>&#46;</p></span><span id="sec0075" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Diagn&#243;stico gen&#233;tico</span><p id="par0100" class="elsevierStylePara elsevierViewall">A SRP foi associada&#44; at&#233; &#224; data&#44; a variantes gen&#233;ticas em sete genes&#44; que codificam principalmente canais de c&#225;lcio &#40;<span class="elsevierStyleItalic">CACNA1C&#44; CACNB2b</span> e <span class="elsevierStyleItalic">CACNA2D1</span>&#41;&#44; mas o seu papel etiol&#243;gico &#233; question&#225;vel<a class="elsevierStyleCrossRef" href="#bib0485"><span class="elsevierStyleSup">8</span></a> e&#44; consequentemente&#44; o teste gen&#233;tico n&#227;o est&#225; indicado<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Tabela 1</a>&#41;&#46;</p></span></span><span id="sec0080" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">S&#237;ndromes do QT</span><span id="sec0085" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">S&#237;ndrome do QT longo</span><span id="sec0090" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0110">Diagn&#243;stico cl&#237;nico</span><p id="par0105" class="elsevierStylePara elsevierViewall">O diagn&#243;stico da s&#237;ndrome do QT longo &#40;SQTL&#41; baseia&#8208;se na medi&#231;&#227;o do intervalo QTc&#44; ap&#243;s exclus&#227;o de causas secund&#225;rias de prolongamento deste intervalo&#44; como f&#225;rmacos e altera&#231;&#245;es eletrol&#237;ticas<a class="elsevierStyleCrossRef" href="#bib0495"><span class="elsevierStyleSup">10</span></a>&#46; Para auxiliar o diagn&#243;stico&#44; foi criado um <span class="elsevierStyleItalic">score</span><a class="elsevierStyleCrossRef" href="#bib0505"><span class="elsevierStyleSup">12</span></a> que&#44; para al&#233;m da dura&#231;&#227;o do QTc&#44; considera outras altera&#231;&#245;es eletrocardiogr&#225;ficas&#44; sintomas e hist&#243;ria familiar &#40;Supl&#46;6&#44; Tabela S3&#41;&#46; Assim&#44; na aus&#234;ncia de causas secund&#225;rias&#44; o diagn&#243;stico de SQTL &#233; estabelecido se<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#58; 1&#41; QTc &#8805;480<span class="elsevierStyleHsp" style=""></span>ms em ECGs repetidos &#40;classe I&#41; <span class="elsevierStyleItalic">ou</span> 2&#41; <span class="elsevierStyleItalic">score</span> de risco &#62; 3 &#40;classe I&#41; <span class="elsevierStyleItalic">ou</span> 3&#41; identifica&#231;&#227;o de variante patog&#233;nica&#44; independentemente da dura&#231;&#227;o do QTc &#40;classe I&#41; <span class="elsevierStyleItalic">ou</span> 4&#41; QTc &#8805;460<span class="elsevierStyleHsp" style=""></span>ms em ECGs repetidos e s&#237;ncope inexplicada &#40;classe IIa&#41;&#46;</p></span><span id="sec0095" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0115">Diagn&#243;stico gen&#233;tico</span><p id="par0110" class="elsevierStylePara elsevierViewall">A SQTL est&#225; associada a variantes gen&#233;ticas documentadas em pelo menos 15 genes<a class="elsevierStyleCrossRef" href="#bib0510"><span class="elsevierStyleSup">13</span></a>&#46; O teste gen&#233;tico identifica variantes patog&#233;nicas em aproximadamente 75&#37; dos casos&#44; sendo que tr&#234;s genes s&#227;o respons&#225;veis por sensivelmente 90&#37; dos testes positivos<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a> &#8211; <span class="elsevierStyleItalic">KCNQ1</span>&#44; <span class="elsevierStyleItalic">KCNH2</span> e <span class="elsevierStyleItalic">SCN5A</span> &#40;associados &#224;s SQTL tipo 1 a 3&#44; respetivamente&#41;<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46; Nestes casos em particular&#44; o diagn&#243;stico gen&#233;tico reveste&#8208;se de valor progn&#243;stico&#44; dado que os diferentes gen&#243;tipos associam&#8208;se a maior ou menor risco de morte s&#250;bita&#44; principalmente quando associado ao g&#233;nero e &#224; dura&#231;&#227;o do QTc&#44; sendo este risco particularmente elevado em mulheres com SQTL tipo 2 e homens com SQTL tipo 3 e com QTc &#62; 500<span class="elsevierStyleHsp" style=""></span>ms<a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;14</span></a>&#44; e dado que os <span class="elsevierStyleItalic">triggers</span> para os eventos arr&#237;tmicos s&#227;o tamb&#233;m distintos &#40;na SQTL tipo 1&#44; a atividade f&#237;sica&#44; particularmente a nata&#231;&#227;o&#59; na SQTL tipo 2&#44; ru&#237;dos altos e s&#250;bitos&#59; na SQTL tipo 3&#44; o repouso ou sono&#41;<a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;15</span></a>&#46; Cerca de 20&#8211;25&#37; dos doentes com SQTL confirmado geneticamente apresentam QTc com dura&#231;&#227;o normal<a class="elsevierStyleCrossRefs" href="#bib0495"><span class="elsevierStyleSup">10&#44;16</span></a>&#46;</p><p id="par0115" class="elsevierStylePara elsevierViewall">O estudo molecular pode ser dirigido a um gene espec&#237;fico&#44; orientado pelo ECG&#44; fatores precipitantes da s&#237;ncope ou presen&#231;a de caracter&#237;sticas sindr&#243;micas&#46; Nos doentes com surdez cong&#233;nita&#44; cardiopatia cong&#233;nita&#44; d&#233;fice cognitivo&#44; perturba&#231;&#227;o do espetro de autismo e&#47;ou dismorfias&#44; deve ser considerada a hip&#243;tese diagn&#243;stica de s&#237;ndrome de Jervell e Lange&#8208;Nielson&#44; s&#237;ndrome de Timothy&#44; s&#237;ndrome de Andersen&#8208;Tawil ou considerar o uso de pain&#233;is gen&#233;ticos&#44; que incluam m&#250;ltiplos genes relacionados com o SQTL&#44; que permitam o diagn&#243;stico de formas mais raras de SQTL<a class="elsevierStyleCrossRef" href="#bib0530"><span class="elsevierStyleSup">17</span></a>&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">A s&#237;ndrome de Jervell e Lange&#8208;Nielson &#233; uma s&#237;ndrome autoss&#243;mica recessiva ou&#44; menos frequentemente&#44; heterozig&#243;tica composta&#44; envolvendo os genes <span class="elsevierStyleItalic">KCNQ1</span> ou <span class="elsevierStyleItalic">KCNE1</span>&#44; na qual a presen&#231;a de prolongamento do QTc&#44; habitualmente &#62; 500<span class="elsevierStyleHsp" style=""></span>ms&#44; se associa surdez neurossensorial cong&#233;nita bilateral profunda e se manifesta habitualmente por s&#237;ncope em contexto de ativa&#231;&#227;o simp&#225;tica<a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;18</span></a>&#59; a s&#237;ndrome de Timothy &#40;SQTL tipo 8&#41; associa&#8208;se a variantes patog&#233;nicas no gene <span class="elsevierStyleItalic">CACNA1C</span> e caracteriza&#8208;se pela presen&#231;a adicional de perturba&#231;&#227;o da condu&#231;&#227;o aur&#237;culo ventricular&#44; taquiarritmias&#44; cardiopatias cong&#233;nitas&#44; dismorfias faciais&#44; das m&#227;os e dos p&#233;s e de perturba&#231;&#227;o do desenvolvimento do espectro do autismo<a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;19</span></a>&#59; a s&#237;ndrome de Andersen&#8208;Tawil &#40;SQTL tipo 7&#41; associa&#8208;se a variantes patog&#233;nicas no gene <span class="elsevierStyleItalic">KCNJ2</span> e&#44; para al&#233;m do prolongamento do QTC &#233; caracterizada pela presen&#231;a de onda U&#44; epis&#243;dios de paralisia muscular peri&#243;dica hipocali&#233;mica&#44; dismorfias faciais e d&#233;fice neurocognitivo ligeiro e manifesta&#8208;se habitualmente por palpita&#231;&#245;es&#44; s&#237;ncope&#44; ou epis&#243;dios de paralisia&#44; ap&#243;s repouso prolongado ou ap&#243;s o repouso depois de esfor&#231;o f&#237;sico <a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;20</span></a>&#46;</p><p id="par0125" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico&#44; conjuntamente com aconselhamento gen&#233;tico&#44; est&#225; indicado em todos os pacientes com o diagn&#243;stico de SQTL ou com forte suspeita cl&#237;nica &#40;classe I&#41;<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">2&#44;3</span></a>&#44; podendo ser considerado em indiv&#237;duos assintom&#225;ticos com QTc prolongado &#40;&#62; 480<span class="elsevierStyleHsp" style=""></span>ms em adultos e &#62; 460<span class="elsevierStyleHsp" style=""></span>ms na pr&#233;&#8208;puberdade&#41; na aus&#234;ncia de causas secund&#225;rias &#40;classe IIb&#41;<span class="elsevierStyleSup">2</span> &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Tabela 1</a>&#41;&#46;</p></span></span><span id="sec0100" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0120">S&#237;ndrome do QT curto</span><span id="sec0105" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0125">Diagn&#243;stico cl&#237;nico</span><p id="par0130" class="elsevierStylePara elsevierViewall">O diagn&#243;stico da s&#237;ndrome do QT curto &#40;SQTC&#41; &#233; estabelecido na presen&#231;a de QTc &#8804;340<span class="elsevierStyleHsp" style=""></span>ms &#40;classe I&#41;&#44; devendo ser considerado &#40;classe IIa&#41;&#44; se QTc &#8804;360<span class="elsevierStyleHsp" style=""></span>ms e adicionalmente existir&#58; 1&#41; variante gen&#233;tica patog&#233;nica confirmada&#59; 2&#41; hist&#243;ria familiar de SQTC&#59; 3&#41; MS familiar antes dos 40 anos&#59; ou 4&#41; TV&#47;FV abortada&#44; sem cardiopatia estrutural<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46;</p></span><span id="sec0110" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0130">Diagn&#243;stico gen&#233;tico</span><p id="par0135" class="elsevierStylePara elsevierViewall">A SQTC est&#225; associada a variantes gen&#233;ticas em tr&#234;s genes que codificam canais de pot&#225;ssio &#40;<span class="elsevierStyleItalic">KCNH2</span>&#44; <span class="elsevierStyleItalic">KNCQ1</span> e <span class="elsevierStyleItalic">KCNJ2</span>&#41;&#44; os quais tamb&#233;m se associam &#224; SQTL&#44; mas com altera&#231;&#245;es da fun&#231;&#227;o destes canais em sentidos opostos<a class="elsevierStyleCrossRefs" href="#bib0475"><span class="elsevierStyleSup">6&#44;10</span></a>&#46;</p><p id="par0140" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico pode ser considerado nos indiv&#237;duos com SQTC &#40;classe IIb&#41;<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">2&#44;3</span></a> para facilitar o rastreio nos familiares de primeiro grau<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Tabela 1</a>&#41;&#46; Ao contr&#225;rio do que acontece no SQTL&#44; no SQTC o teste gen&#233;tico n&#227;o tem valor progn&#243;stico&#46;</p></span></span></span></span><span id="sec0115" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0135">Taquicardia ventricular polim&#243;rfica catecolamin&#233;rgica</span><span id="sec0120" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0140">Diagn&#243;stico cl&#237;nico</span><p id="par0145" class="elsevierStylePara elsevierViewall">A taquicardia ventricular polim&#243;rfica catecolamin&#233;rgica &#40;TVPC&#41; &#233; uma s&#237;ndrome arritmog&#233;nica heredit&#225;ria que tipicamente se manifesta por s&#237;ncope ou MS adrenergicamente mediadas e secund&#225;rias a taquiarritmias ventriculares<a class="elsevierStyleCrossRef" href="#bib0550"><span class="elsevierStyleSup">21</span></a>&#46; O diagn&#243;stico &#233; estabelecido na presen&#231;a de&#58; 1&#41; TV bidirecional ou polim&#243;rfica induzida pelo exerc&#237;cio ou <span class="elsevierStyleItalic">stress</span> emocional&#44; na presen&#231;a de cora&#231;&#227;o estruturalmente normal e ECG normal &#40;classe I&#41;&#59; ou 2&#41; variante patog&#233;nica nos genes <span class="elsevierStyleItalic">RYR2</span> ou <span class="elsevierStyleItalic">CASQ2</span> &#40;classe I&#41;<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46;</p></span><span id="sec0125" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0145">Diagn&#243;stico gen&#233;tico</span><p id="par0150" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico est&#225; recomendado nos indiv&#237;duos com TVPC &#40;classe IIa&#40;3&#41; &#47; I&#40;2&#41;&#41; &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Tabela 1</a>&#41;&#46;</p></span></span><span id="sec0130" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0150">Miocardiopatias</span><p id="par0155" class="elsevierStylePara elsevierViewall">As miocardiopatias s&#227;o doen&#231;as do mioc&#225;rdio caracterizadas por altera&#231;&#245;es estruturais e&#47;ou funcionais do m&#250;sculo card&#237;aco na aus&#234;ncia de doen&#231;a coron&#225;ria&#44; hipertens&#227;o&#44; doen&#231;a valvular ou cardiopatias cong&#233;nitas&#44; &#171;suficientes&#187; para provocar as altera&#231;&#245;es observadas<a class="elsevierStyleCrossRef" href="#bib0555"><span class="elsevierStyleSup">22</span></a>&#46;</p><p id="par0160" class="elsevierStylePara elsevierViewall">Atualmente o estudo molecular &#233; parte integrante da avalia&#231;&#227;o e orienta&#231;&#227;o de doentes&#47;fam&#237;lias com miocardiopatias&#44; sendo tamb&#233;m considerado um dos crit&#233;rios de diagn&#243;stico das formas familiares<a class="elsevierStyleCrossRefs" href="#bib0560"><span class="elsevierStyleSup">23&#44;24</span></a>&#46;</p><span id="sec0135" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0155">Miocardiopatia hipertr&#243;fica</span><span id="sec0140" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0160">Diagn&#243;stico cl&#237;nico</span><p id="par0170" class="elsevierStylePara elsevierViewall">A miocardiopatia hipertr&#243;fica &#40;MCH&#41; &#233; definida pela presen&#231;a de hipertrofia ventricular esquerda inapropriada e desproporcional &#224;s condi&#231;&#245;es de carga na aus&#234;ncia de outra condi&#231;&#227;o card&#237;aca ou sist&#233;mica que justifique a magnitude de hipertrofia observada&#46; O crit&#233;rio de diagn&#243;stico consiste na presen&#231;a de espessura m&#225;xima da parede do ventr&#237;culo esquerdo &#8805;15<span class="elsevierStyleHsp" style=""></span>mm em qualquer segmento mioc&#225;rdico&#46; Em parentes de 1&#46;&#176; grau&#44; &#233; suficiente uma espessura da parede &#8805;13<span class="elsevierStyleHsp" style=""></span>mm&#44; n&#227;o explicada de outra forma&#44; em qualquer segmento mioc&#225;rdico<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">25</span></a>&#46;</p></span><span id="sec0145" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0165">Diagn&#243;stico gen&#233;tico</span><p id="par0175" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico &#40;dirigido ou com pain&#233;is gen&#233;ticos alargados&#41; est&#225; recomendado em doentes com o diagn&#243;stico cl&#237;nico de MCH &#40;classe I<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">2&#44;25</span></a> &#47; classe IIa<a class="elsevierStyleCrossRefs" href="#bib0460"><span class="elsevierStyleSup">3&#44;26</span></a> &#47; n&#237;vel A<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&#41;&#44; principalmente quando se antev&#234; a realiza&#231;&#227;o de rastreio gen&#233;tico familiar<a class="elsevierStyleCrossRefs" href="#bib0570"><span class="elsevierStyleSup">25&#44;26</span></a>&#46; O diagn&#243;stico molecular &#233; tamb&#233;m recomendado quando a apresenta&#231;&#227;o cl&#237;nica sugere etiologia gen&#233;tica espec&#237;fica&#44; n&#227;o sarcom&#233;rica &#40;classe I&#41;<a class="elsevierStyleCrossRef" href="#bib0575"><span class="elsevierStyleSup">26</span></a>&#46;</p><p id="par0180" class="elsevierStylePara elsevierViewall">Em doentes cumprindo os crit&#233;rios de diagn&#243;stico de MCH&#44; a &#171;positividade&#187; estima&#8208;se entre 30&#37; a 60&#37; dos casos<a class="elsevierStyleCrossRefs" href="#bib0570"><span class="elsevierStyleSup">25&#44;27&#8211;29</span></a>&#44; sendo mais elevada nos casos de doen&#231;a familiar e mais baixa em doentes idosos e em indiv&#237;duos com manifesta&#231;&#245;es cl&#237;nicas n&#227;o cl&#225;ssicas &#40;in&#237;cio tardio da doen&#231;a&#44; menor gravidade da hipertrofia&#44; hipertrofia conc&#234;ntrica ou septal sigm&#243;idea&#44; aus&#234;ncia de eventos adversos&#41;<a class="elsevierStyleCrossRefs" href="#bib0570"><span class="elsevierStyleSup">25&#44;28&#44;29</span></a>&#46;</p><p id="par0185" class="elsevierStylePara elsevierViewall">Em indiv&#237;duos com achados cl&#237;nicos equ&#237;vocos &#40;como espessura das paredes do ventr&#237;culo esquerdo entre 12&#8208;13<span class="elsevierStyleHsp" style=""></span>mm e hipertens&#227;o arterial&#44; doen&#231;a valvular ou pr&#225;tica de desporto concomitantes&#41; o teste gen&#233;tico deve apenas ser realizado ap&#243;s uma avalia&#231;&#227;o cl&#237;nica e familiar exaustivas por equipas especializadas &#40;classe IIa&#41;<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">25</span></a>&#44; uma vez que o resultado pode igualmente ser equ&#237;voco&#58; um resultado negativo n&#227;o exclui o diagn&#243;stico e as VSI s&#227;o de dif&#237;cil interpreta&#231;&#227;o<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">25</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Tabela 2</a>&#41;&#46;</p><elsevierMultimedia ident="tbl0010"></elsevierMultimedia></span><span id="sec0150" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0170">Fenoc&#243;pias</span><p id="par0190" class="elsevierStylePara elsevierViewall">Doen&#231;as heredit&#225;rias do metabolismo e outras correspondem a uma pequena&#44; mas importante&#44; fra&#231;&#227;o de doentes genotipados para MCH&#44; sendo as condi&#231;&#245;es mais frequentemente encontradas na popula&#231;&#227;o adulta a doen&#231;a de Anderson&#8208;Fabry&#44; a doen&#231;a de Danon&#44; a amiloidose e a MCH devida a variantes no gene <span class="elsevierStyleItalic">PRKAG2</span>&#46; O diagn&#243;stico diferencial &#233; crucial&#44; uma vez que estas patologias cursam com hist&#243;ria natural e progn&#243;stico muito diferentes e podem implicar atitudes terap&#234;uticas distintas&#46; Nos suplementos &#40;Supl&#46;7&#41; s&#227;o enumeradas manifesta&#231;&#245;es&#44; card&#237;acas e extracard&#237;acas&#44; que podem orientar o diagn&#243;stico molecular&#46;</p></span></span><span id="sec0155" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0175">Miocardiopatia dilatada</span><span id="sec0160" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0180">Diagn&#243;stico cl&#237;nico</span><p id="par0195" class="elsevierStylePara elsevierViewall">A miocardiopatia dilatada &#40;MCD&#41; &#233; definida pela presen&#231;a de dilata&#231;&#227;o e compromisso da fun&#231;&#227;o sist&#243;lica do ventr&#237;culo esquerdo ou de ambos os ventr&#237;culos&#44; na aus&#234;ncia de condi&#231;&#245;es de sobrecarga ou de doen&#231;a coron&#225;ria &#171;suficientes&#187; para explicar o grau de disfun&#231;&#227;o&#46; Considera&#8208;se fenotipicamente relacionada a miocardiopatia hipocin&#233;tica n&#227;o dilatada &#40;MHND&#41;&#44; definida pela presen&#231;a de disfun&#231;&#227;o sist&#243;lica do ventr&#237;culo esquerdo &#40;FEVE &#60; 45&#37;&#41; ou de ambos os ventr&#237;culos&#44; na aus&#234;ncia de dilata&#231;&#227;o ventricular<a class="elsevierStyleCrossRef" href="#bib0565"><span class="elsevierStyleSup">24</span></a>&#46;</p><p id="par0200" class="elsevierStylePara elsevierViewall">Com a melhoria das t&#233;cnicas de diagn&#243;stico molecular&#44; tem&#8208;se verificado que 25&#8208;50&#37; dos casos de MCD &#171;idiop&#225;tica&#187; apresentam uma base gen&#233;tica&#44; predominantemente com transmiss&#227;o autoss&#243;mica dominante<a class="elsevierStyleCrossRefs" href="#bib0565"><span class="elsevierStyleSup">24&#44;30&#44;31</span></a>&#44; pelo que &#233; fundamental a avalia&#231;&#227;o exaustiva da hist&#243;ria familiar&#44; envolvendo pelo menos tr&#234;s gera&#231;&#245;es&#44; nos casos de MCD <span class="elsevierStyleItalic">de novo</span>&#46; Na aus&#234;ncia de uma etiologia gen&#233;tica definitiva&#44; considera&#8208;se que a MCD &#40;ou MHND&#41; &#233; familiar se existirem dois ou mais indiv&#237;duos afetados na mesma fam&#237;lia ou na presen&#231;a de um indiv&#237;duo com diagn&#243;stico definitivo &#40;MCD ou MHND&#41; e um familiar de 1&#46;&#176; grau com diagn&#243;stico confirmado por aut&#243;psia e MS antes dos 50 anos<a class="elsevierStyleCrossRef" href="#bib0565"><span class="elsevierStyleSup">24</span></a>&#46;</p><p id="par0205" class="elsevierStylePara elsevierViewall">Por outro lado&#44; a aus&#234;ncia de hist&#243;ria familiar n&#227;o exclui etiologia gen&#233;tica e esta deve ser particularmente considerada quando existe perturba&#231;&#227;o da condu&#231;&#227;o auriculo&#8208;ventricular pr&#233;via ou concomitante com a disfun&#231;&#227;o ventricular ou miopatia esquel&#233;tica<a class="elsevierStyleCrossRef" href="#bib0595"><span class="elsevierStyleSup">30</span></a>&#46; Para o diagn&#243;stico da doen&#231;a em familiares existem ainda outros crit&#233;rios de diagn&#243;stico &#40;Supl&#46; 8&#59; Tabela S4&#41;<a class="elsevierStyleCrossRef" href="#bib0565"><span class="elsevierStyleSup">24</span></a>&#46;</p></span><span id="sec0165" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0185">Diagn&#243;stico gen&#233;tico</span><p id="par0210" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico est&#225; recomendado &#40;classe I&#41; em doentes com MCD e doen&#231;a significativa do tecido de condu&#231;&#227;o &#40;bloqueio auriculo&#8208;ventricular de 1&#46;&#176;&#44; 2&#46;&#176; ou 3&#46;&#176; grau&#41; e com hist&#243;ria familiar de MS prematura inexplicada<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&#59; em doentes com MCD familiar ou nos casos de MCD espor&#225;dica associada &#224; presen&#231;a de manifesta&#231;&#245;es particulares&#44; sugestivas de doen&#231;a gen&#233;tica&#47;rara<a class="elsevierStyleCrossRef" href="#bib0565"><span class="elsevierStyleSup">24</span></a>&#46; Nos indiv&#237;duos com o diagn&#243;stico de MCD&#44; deve ser testado o indiv&#237;duo com o fen&#243;tipo mais evidente &#40;n&#237;vel A&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Tabela 2</a>&#41;&#46;</p><p id="par0215" class="elsevierStylePara elsevierViewall">Nos suplementos &#40;Supl&#46;9&#41; s&#227;o enumeradas algumas manifesta&#231;&#245;es sugestivas de doen&#231;a gen&#233;tica&#47;rara&#44; orientadoras do diagn&#243;stico molecular&#46;</p><p id="par0220" class="elsevierStylePara elsevierViewall">A &#171;positividade&#187; do teste gen&#233;tico aproxima&#8208;se dos 30&#8208;40&#37;<a class="elsevierStyleCrossRef" href="#bib0600"><span class="elsevierStyleSup">31</span></a>&#44; sendo mais elevada nos casos familiares do que nos casos isolados de MCD &#40;25&#8208;40&#37; <span class="elsevierStyleItalic">versus</span> 10&#8208;25&#37;&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&#46;</p></span></span><span id="sec0170" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0190">Miocardiopatia arritmog&#233;nica do ventr&#237;culo direito</span><span id="sec0175" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0195">Diagn&#243;stico cl&#237;nico</span><p id="par0225" class="elsevierStylePara elsevierViewall">A miocardiopatia arritmog&#233;nica do ventr&#237;culo direito &#40;MAVD&#41; &#233; definida histologicamente pela substitui&#231;&#227;o progressiva do mioc&#225;rdio ventricular por tecido fibro&#8208;adiposo&#44; particularmente na regi&#227;o denominada &#171;tri&#226;ngulo da displasia&#187; &#40;entre a c&#226;mara de entrada&#44; c&#226;mara de sa&#237;da e &#225;pex do ventr&#237;culo direito&#41;<a class="elsevierStyleCrossRef" href="#bib0555"><span class="elsevierStyleSup">22</span></a>&#46; A MAVD &#233; diagnosticada na presen&#231;a de disfun&#231;&#227;o ventricular direita &#40;global ou regional&#41;&#44; associada ou n&#227;o a doen&#231;a ventricular esquerda&#44; na presen&#231;a de evid&#234;ncia histol&#243;gica da doen&#231;a e&#47;ou altera&#231;&#245;es do ECG&#44; ecocardiograma ou resson&#226;ncia magn&#233;tica card&#237;aca &#40;RMC&#41; &#40;Supl&#46; 10&#59; Tabela S5&#41;<a class="elsevierStyleCrossRef" href="#bib0605"><span class="elsevierStyleSup">32</span></a>&#46;</p><p id="par0230" class="elsevierStylePara elsevierViewall">Embora as anomalias estruturais predominem no ventr&#237;culo direito&#44; hoje &#233; bem reconhecido que o envolvimento pode ser biventricular e&#47;ou predominantemente do ventr&#237;culo esquerdo<a class="elsevierStyleCrossRef" href="#bib0610"><span class="elsevierStyleSup">33</span></a>&#46; Deve ser elevado o &#237;ndice de suspei&#231;&#227;o desta entidade cl&#237;nica aquando da coexist&#234;ncia de padr&#245;es de realce tardio n&#227;o isqu&#233;micos&#44; poupando o subendoc&#225;rdio na RMC&#44; de anomalias da onda T no ECG e de arritmias ventriculares&#44; particularmente na presen&#231;a de MS familiar<a class="elsevierStyleCrossRef" href="#bib0615"><span class="elsevierStyleSup">34</span></a>&#46;</p></span><span id="sec0180" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0200">Diagn&#243;stico em casos familiares</span><p id="par0240" class="elsevierStylePara elsevierViewall">Ap&#243;s o diagn&#243;stico de MAVD&#44; o diagn&#243;stico em familiares de 1&#46;&#176; grau&#44; necessita apenas de um dos seguintes crit&#233;rios&#58; 1&#41; invers&#227;o da onda T em V1&#44; V2 e V3 &#40;&#62; 14 anos&#41;&#59; 2&#41; potenciais tardios&#59; 3&#41; TV com padr&#227;o de bloqueio de ramo esquerdo ou ectopia ventricular frequente &#40;&#62; 200 extrass&#237;stoles ventriculares em Holter de 24 horas&#41;&#59; 4&#41; ligeira dilata&#231;&#227;o ou disfun&#231;&#227;o ventricular direita&#44; global ou segmentar<a class="elsevierStyleCrossRef" href="#bib0605"><span class="elsevierStyleSup">32</span></a>&#46;</p></span><span id="sec0185" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0205">Diagn&#243;stico gen&#233;tico</span><p id="par0245" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico&#44; dirigido ou alargado&#44; pode ser &#250;til em indiv&#237;duos que cumpram os crit&#233;rios de diagn&#243;stico de MAVD &#40;classe IIa<a class="elsevierStyleCrossRefs" href="#bib0455"><span class="elsevierStyleSup">2&#44;3</span></a>&#47; n&#237;vel A<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&#41;&#44; podendo ser considerado nos casos &#171;poss&#237;veis&#187; &#40;classe IIb&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&#46; Na MAVD a &#171;positividade&#187; do teste gen&#233;tico aproxima&#8208;se habitualmente dos 50&#37;<a class="elsevierStyleCrossRef" href="#bib0620"><span class="elsevierStyleSup">35</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Tabela 2</a>&#41;&#46;</p></span></span><span id="sec0190" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0210">Miocardiopatia restritiva</span><span id="sec0195" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0215">Diagn&#243;stico cl&#237;nico</span><p id="par0250" class="elsevierStylePara elsevierViewall">A miocardiopatia restritiva &#40;MCR&#41; &#233; rara e pode ser idiop&#225;tica&#44; familiar ou secund&#225;ria a doen&#231;as sist&#233;micas&#46; Caracteriza&#8208;se por uma fisiologia restritiva&#44; detetada habitualmente por ecocardiografia&#44; na presen&#231;a de volumes ventriculares normais &#40;ou diminu&#237;dos&#41; e espessura n&#227;o significativamente aumentada das paredes ventriculares &#40;embora a espessura possa estar aumentada nas doen&#231;as infiltrativas&#41;<a class="elsevierStyleCrossRef" href="#bib0555"><span class="elsevierStyleSup">22</span></a>&#46;</p></span><span id="sec0200" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0220">Diagn&#243;stico gen&#233;tico</span><p id="par0255" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico pode ser considerado em doentes com MCR&#44; depois da pondera&#231;&#227;o dos achados da anamnese&#44; antecedentes familiares e fen&#243;tipo cl&#237;nico&#44; eletrocardiogr&#225;fico e ecocardiogr&#225;fico &#40;classe IIb<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&#47; n&#237;vel B<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&#41; &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Tabela 2</a>&#41;&#46;</p><p id="par0260" class="elsevierStylePara elsevierViewall">Antes do estudo gen&#233;tico devem ser considerados alguns diagn&#243;sticos diferenciais e testes diagn&#243;sticos espec&#237;ficos &#40;Supl&#46;11&#41;&#46;</p></span></span><span id="sec0205" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0225">N&#227;o&#8208;compacta&#231;&#227;o do ventr&#237;culo esquerdo</span><span id="sec0210" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0230">Diagn&#243;stico cl&#237;nico</span><p id="par0265" class="elsevierStylePara elsevierViewall">A n&#227;o&#8208;compacta&#231;&#227;o do ventr&#237;culo esquerdo &#40;NCVE&#41; caracteriza&#8208;se pela presen&#231;a de trab&#233;culas proeminentes&#44; com recessos intertrabeculares profundos em comunica&#231;&#227;o com o sangue da cavidade ventricular&#44; sem comunica&#231;&#227;o com a &#225;rvore coron&#225;ria&#44; sendo poss&#237;vel distinguir uma camada de mioc&#225;rdio compactado e outra de mioc&#225;rdio n&#227;o compactado<a class="elsevierStyleCrossRef" href="#bib0555"><span class="elsevierStyleSup">22</span></a>&#46; Em alguns indiv&#237;duos&#44; a NCVE associa&#8208;se a dilata&#231;&#227;o ventricular e disfun&#231;&#227;o sist&#243;lica<a class="elsevierStyleCrossRef" href="#bib0555"><span class="elsevierStyleSup">22</span></a>&#46;</p><p id="par0270" class="elsevierStylePara elsevierViewall">Nem sempre &#233; consensual considerar a NCVE uma miocardiopatia prim&#225;ria e independente ou apenas um tra&#231;o fenot&#237;pico&#44; compartilhado por outras miocardiopatias&#44; outras condi&#231;&#245;es patol&#243;gicas &#40;doen&#231;as neuromusculares&#44; miopatias&#44; doen&#231;as mitocondriais&#41; ou fisiol&#243;gicas &#40;como a gravidez ou pr&#225;tica desportiva&#41;<a class="elsevierStyleCrossRefs" href="#bib0560"><span class="elsevierStyleSup">23&#44;36&#44;37</span></a>&#46;</p><p id="par0275" class="elsevierStylePara elsevierViewall">Para o seu diagn&#243;stico&#44; existem v&#225;rios crit&#233;rios baseados nos achados imagiol&#243;gicos &#40;Supl&#46;12&#59; Tabela S6&#41;<a class="elsevierStyleCrossRefs" href="#bib0635"><span class="elsevierStyleSup">38&#8208;44</span></a>&#46;</p><p id="par0280" class="elsevierStylePara elsevierViewall">A probabilidade de miocardiopatia aumenta quando s&#227;o cumpridos os crit&#233;rios diagn&#243;stico quantitativos em eixo curto &#40;de Jenni<a class="elsevierStyleCrossRef" href="#bib0635"><span class="elsevierStyleSup">38</span></a> ou de Jacquier<a class="elsevierStyleCrossRef" href="#bib0660"><span class="elsevierStyleSup">43</span></a>&#41; na presen&#231;a adicional de um dos seguintes fatores&#58; outro familiar afetado &#40;ou hist&#243;ria familiar de miocardiopatia&#41;&#59; altera&#231;&#245;es da contractilidade&#47;compromisso da fun&#231;&#227;o ventricular&#59; sintomas&#47;complica&#231;&#245;es&#59; doen&#231;a neuromuscular&#59; variante gen&#233;tica potencialmente causal descrita em v&#225;rias fam&#237;lias com NCVE<a class="elsevierStyleCrossRefs" href="#bib0670"><span class="elsevierStyleSup">45&#44;46</span></a>&#46;</p></span><span id="sec0215" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0235">Diagn&#243;stico gen&#233;tico</span><p id="par0285" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico pode ser &#250;til em doentes com NCVE&#44; depois da pondera&#231;&#227;o dos achados da anamnese&#44; antecedentes familiares e fen&#243;tipo cl&#237;nico &#40;particularmente doen&#231;a neuromuscular&#41;&#44; eletrocardiogr&#225;fico e ecocardiogr&#225;fico &#40;classe IIa&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&#46; N&#227;o est&#225; recomendado em indiv&#237;duos com NCVE isolada&#44; sem outras altera&#231;&#245;es na estrutura ou fun&#231;&#227;o ventricular&#44; assintom&#225;ticos e sem hist&#243;ria familiar &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Tabela 2</a>&#41;&#46;</p></span></span></span><span id="sec0220" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0240">Rastreio familiar nas miocardiopatias</span><p id="par0290" class="elsevierStylePara elsevierViewall">A avalia&#231;&#227;o cl&#237;nica e molecular dos familiares de doentes com miocardiopatias encontra&#8208;se detalhada nos suplementos &#40;Supl&#46;13&#59; Tabela S7&#41;&#46;</p></span><span id="sec0225" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0245">Aortopatias heredit&#225;rias</span><p id="par0295" class="elsevierStylePara elsevierViewall">As doen&#231;as heredit&#225;rias da aorta s&#227;o um grupo heterog&#233;neo de patologias caracterizadas pela ocorr&#234;ncia de aneurismas e&#47;ou disse&#231;&#245;es num ou mais segmentos da aorta&#44; habitualmente localizados entre o anel a&#243;rtico e o n&#237;vel do diafragma&#46; Dependendo da presen&#231;a ou aus&#234;ncia de manifesta&#231;&#245;es noutros &#243;rg&#227;os&#44; as aortopatias heredit&#225;rias podem ser sindr&#243;micas ou n&#227;o&#46; Os genes identificados codificam maioritariamente prote&#237;nas da matriz extracelular&#44; componentes da via TGF&#8208;&#946; ou do aparelho contr&#225;ctil do m&#250;sculo liso vascular<a class="elsevierStyleCrossRefs" href="#bib0680"><span class="elsevierStyleSup">47&#44;48</span></a>&#46;</p><p id="par0300" class="elsevierStylePara elsevierViewall">Em doentes com aneurismas&#47;disse&#231;&#245;es da aorta tor&#225;cica est&#225; recomendado investigar os familiares de 1&#46;&#176; grau de forma a identificar poss&#237;veis formas familiares da doen&#231;a &#40;classe I&#41;&#46; Os casos familiares devem ser referenciados a um geneticista para aconselhamento familiar e estudo gen&#233;tico &#40;classe I&#41;&#46; Nos casos familiares n&#227;o sindr&#243;micos&#44; deve ser rastreada a presen&#231;a de aneurismas tamb&#233;m noutros territ&#243;rios arteriais&#44; incluindo as art&#233;rias cerebrais &#40;classe IIa&#41;<a class="elsevierStyleCrossRef" href="#bib0690"><span class="elsevierStyleSup">49</span></a>&#46;</p><p id="par0305" class="elsevierStylePara elsevierViewall">As principais s&#237;ndromes associadas a aneurismas&#47;disse&#231;&#245;es da aorta e as indica&#231;&#245;es para a avalia&#231;&#227;o imagiol&#243;gica da aorta encontram&#8208;se nos suplementos &#40;Supl&#46;14&#59; Tabelas S8&#46;1&#44; S8&#46;2 e S8&#46;3&#41;&#46;</p></span><span id="sec0230" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0250">Hipercolesterolemia familiar</span><p id="par0310" class="elsevierStylePara elsevierViewall">Embora o conhecimento da hipercolesterolemia familiar &#40;FH&#41; tenha aumentado nas &#250;ltimas d&#233;cadas&#44; esta patologia gen&#233;tica comum&#44; potencialmente fatal&#44; mas trat&#225;vel&#44; permanece subdiagnosticada e subtratada<a class="elsevierStyleCrossRef" href="#bib0695"><span class="elsevierStyleSup">50</span></a>&#46; &#201; cr&#237;tico fazer o diagn&#243;stico precoce da FH e instituir medidas terap&#234;uticas adequadas e individualizadas para prevenir a doen&#231;a ateroscler&#243;tica prematura&#44; bem como identificar os parentes afetados e reduzir assim a carga das doen&#231;as cardiovasculares nestas fam&#237;lias&#46;</p><span id="sec0235" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0255">Diagn&#243;stico cl&#237;nico</span><p id="par0320" class="elsevierStylePara elsevierViewall">Existem dois sistemas de crit&#233;rios cl&#237;nicos para o diagn&#243;stico da FH&#58; os Crit&#233;rios de <span class="elsevierStyleItalic">Simon Broome Heart Research Trust</span><a class="elsevierStyleCrossRef" href="#bib0700"><span class="elsevierStyleSup">51</span></a> e os Crit&#233;rios da Cl&#237;nica de L&#237;pidos da Holanda<a class="elsevierStyleCrossRef" href="#bib0705"><span class="elsevierStyleSup">52</span></a><span class="elsevierStyleItalic">&#46;</span> Em Portugal&#44; s&#227;o habitualmente usados os crit&#233;rios adaptados de <span class="elsevierStyleItalic">Simon Broome Heart Research Trust</span>&#58;</p></span></span><span id="sec0240" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0260">Hipercolesterolemia familiar poss&#237;vel</span><p id="par0325" class="elsevierStylePara elsevierViewall"><ul class="elsevierStyleList" id="lis0005"><li class="elsevierStyleListItem" id="lsti0005"><span class="elsevierStyleLabel">&#40;a&#41;</span><p id="par0330" class="elsevierStylePara elsevierViewall">Crian&#231;as e jovens menores de 16 anos&#58; Colesterol total &#62; 260<span class="elsevierStyleHsp" style=""></span>mg&#47;dL ou colesterol LDL &#62;155<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#42;&#59; Adultos&#58; Colesterol total &#62; 290<span class="elsevierStyleHsp" style=""></span>mg&#47;dL ou colesterol LDL &#62;190<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#42;e</p></li><li class="elsevierStyleListItem" id="lsti0010"><span class="elsevierStyleLabel">&#40;b&#41;</span><p id="par0335" class="elsevierStylePara elsevierViewall">Hist&#243;ria familiar de enfarte do mioc&#225;rdio antes dos 50 anos em av&#243;s e tios ou antes dos 60 anos nos pais&#44; irm&#227;os e filhose&#47;ou</p></li><li class="elsevierStyleListItem" id="lsti0015"><span class="elsevierStyleLabel">&#40;c&#41;</span><p id="par0340" class="elsevierStylePara elsevierViewall">Hist&#243;ria familiar de n&#237;veis elevados de colesterol total &#40;&#62; 290<span class="elsevierStyleHsp" style=""></span>mg&#47;dL nos adultos e &#62; 260<span class="elsevierStyleHsp" style=""></span>mg&#47;dL nas crian&#231;as e jovens menores de 16 anos&#41; nos pais&#44; irm&#227;os ou filhos&#59; ou colesterol total &#62; 290<span class="elsevierStyleHsp" style=""></span>mg&#47;dL nos av&#243;s e&#47;ou tios&#46;</p></li></ul></p><p id="par0345" class="elsevierStylePara elsevierViewall">&#42; Valores verificados em duas ocasi&#245;es distintas&#44; preferencialmente ap&#243;s 3&#8208;6 meses de implementa&#231;&#227;o de altera&#231;&#245;es no estilo de vida apropriadas&#46;</p></span><span id="sec0245" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0265">Hipercolesterolemia familiar confirmada</span><p id="par0350" class="elsevierStylePara elsevierViewall">Indiv&#237;duos que cumpram os crit&#233;rios acima mencionados e&#44; os pr&#243;prios ou familiares de 1&#46;&#176; ou 2&#46;&#176; grau &#40;pais&#44; filhos&#44; av&#243;s&#44; irm&#227;os&#44; tios&#41;&#44; apresentem xantomas tendinosos</p><p id="par0355" class="elsevierStylePara elsevierViewall">ou</p><p id="par0360" class="elsevierStylePara elsevierViewall">Presen&#231;a de uma variante patog&#233;nica&#47;provavelmente patog&#233;nica num dos tr&#234;s genes associados a HF&#58; <span class="elsevierStyleItalic">LDLR&#44; APOB&#44; PCSK9&#46;</span></p><span id="sec0250" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0270">Diagn&#243;stico gen&#233;tico</span><p id="par0365" class="elsevierStylePara elsevierViewall">O teste gen&#233;tico da FH deve ser realizado em indiv&#237;duos com FH confirmada ou prov&#225;vel&#44; bem como nos familiares em risco&#44; conforme recomendado pelo painel de peritos<a class="elsevierStyleCrossRef" href="#bib0710"><span class="elsevierStyleSup">53</span></a>&#46; O teste deve incluir os genes <span class="elsevierStyleItalic">LDLR</span>&#44; <span class="elsevierStyleItalic">APOB</span> e <span class="elsevierStyleItalic">PCSK9</span> e sempre que poss&#237;vel os genes associados a fenoc&#243;pias da FH&#58; <span class="elsevierStyleItalic">LDLRAP1</span>&#44; <span class="elsevierStyleItalic">APOE</span>&#44; <span class="elsevierStyleItalic">LIPA</span>&#44; <span class="elsevierStyleItalic">ABCG5</span> e <span class="elsevierStyleItalic">ABCG8</span><a class="elsevierStyleCrossRef" href="#bib0710"><span class="elsevierStyleSup">53</span></a>&#46; O teste gen&#233;tico fornece informa&#231;&#245;es progn&#243;sticas&#44; permitindo efetuar uma estratifica&#231;&#227;o de risco mais refinada&#46;</p><p id="par0370" class="elsevierStylePara elsevierViewall">O rastreio dos familiares em risco &#40;cascata gen&#233;tica&#41; &#233; altamente eficaz na identifica&#231;&#227;o dos indiv&#237;duos afetados&#44; que requerem tratamento adequado&#46;</p><p id="par0375" class="elsevierStylePara elsevierViewall">Os indiv&#237;duos com FH confirmada devem ser encaminhados para um especialista em FH&#44; particularmente aqueles com FH homozig&#243;tica&#46; Todas os indiv&#237;duos com FH devem ser avaliados pelo menos anualmente&#44; j&#225; que o seu seguimento regular e estruturado pode reduzir a morbilidade e mortalidade por doen&#231;as cardiovasculares&#44; atrav&#233;s de mudan&#231;as de h&#225;bitos de vida e medidas terap&#234;uticas precoces e adequadas<a class="elsevierStyleCrossRef" href="#bib0715"><span class="elsevierStyleSup">54</span></a>&#46;</p></span></span><span id="sec0255" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0275">Cardiopatias cong&#233;nitas</span><p id="par0380" class="elsevierStylePara elsevierViewall">As cardiopatias cong&#233;nitas &#40;CC&#41; correspondem a malforma&#231;&#245;es cardiovasculares presentes desde o nascimento e ocorrem em 1&#8208;1&#44;2&#37; dos nados vivos<a class="elsevierStyleCrossRef" href="#bib0720"><span class="elsevierStyleSup">55</span></a><span class="elsevierStyleItalic">&#46;</span> Como nem todos os casos s&#227;o diagnosticados precocemente&#44; a preval&#234;ncia &#233; dif&#237;cil de determinar&#44; estando estimada em 13&#44;1&#47;1000 crian&#231;as e 6&#44;1&#47;1000 adultos &#40;&#8764;90&#37; s&#227;o casos espor&#225;dicos&#41;<a class="elsevierStyleCrossRef" href="#bib0725"><span class="elsevierStyleSup">56</span></a>&#46; A maioria das crian&#231;as com CC sobrevive at&#233; a idade adulta&#44; embora uma propor&#231;&#227;o significativa necessite de uma ou mais cirurgias ou desenvolva v&#225;rias complica&#231;&#245;es&#44; como arritmias ou insufici&#234;ncia card&#237;aca&#46;</p><p id="par0385" class="elsevierStylePara elsevierViewall">Os principais fatores etiol&#243;gicos das CC e a abordagem ao seu diagn&#243;stico gen&#233;ticos encontram&#8208;se pormenorizados nos suplementos &#40;Supl&#46;15&#41;&#46;</p><p id="par0390" class="elsevierStylePara elsevierViewall">Na &#250;ltima d&#233;cada tem sido crescente o n&#250;mero de variantes gen&#233;ticas associadas a CC&#44; seja formas espor&#225;dicas ou heredit&#225;rias&#44; sindr&#243;micas ou n&#227;o&#46; O diagn&#243;stico gen&#233;tico definitivo pode permitir&#44; por exemplo&#44; a identifica&#231;&#227;o de um fen&#243;tipo n&#227;o card&#237;aco que implique um seguimento e terap&#234;utica particulares e otimizar o aconselhamento gen&#233;tico&#46; No suplemento 15 encontram&#8208;se alguns exemplos de CC sindr&#243;micas frequentes &#40;Tabela S9&#46;1&#41; e dados sobre o risco de recorr&#234;ncia de algumas CC &#40;Tabelas S9&#46;2 e S9&#46;3&#41;&#46;</p></span><span id="sec0260" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0280">Hipertens&#227;o arterial pulmonar</span><span id="sec0265" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0285">Diagn&#243;stico cl&#237;nico</span><p id="par0395" class="elsevierStylePara elsevierViewall">A hipertens&#227;o arterial pulmonar &#40;HAP&#41; define&#8208;se por press&#227;o arterial m&#233;dia &#8805; 20<span class="elsevierStyleHsp" style=""></span>mmHg&#44; associada a press&#227;o de encravamento da art&#233;ria pulmonar &#8804;15<span class="elsevierStyleHsp" style=""></span>mmHg e resist&#234;ncias vasculares pulmonares &#62;3 UW&#44; em repouso&#44; avaliadas por cateterismo card&#237;aco direito<a class="elsevierStyleCrossRef" href="#bib0730"><span class="elsevierStyleSup">57</span></a>&#46;</p><p id="par0400" class="elsevierStylePara elsevierViewall">Cerca de 70&#8208;80&#37; dos doentes com HAP heredit&#225;ria autoss&#243;mica dominante<a class="elsevierStyleCrossRef" href="#bib0735"><span class="elsevierStyleSup">58</span></a> e 10&#8208;20&#37; daqueles com HAP espor&#225;dica&#47;idiop&#225;tica<a class="elsevierStyleCrossRef" href="#bib0740"><span class="elsevierStyleSup">59</span></a> apresentam variantes no gene <span class="elsevierStyleItalic">BMPR2</span> &#40;membro da fam&#237;lia <span class="elsevierStyleItalic">TGF&#8208;&#946;</span>&#41;&#46; No caso de variantes neste gene&#44; a penetr&#226;ncia da doen&#231;a &#233; maior no sexo feminino<a class="elsevierStyleCrossRef" href="#bib0745"><span class="elsevierStyleSup">60</span></a>&#46;</p><p id="par0405" class="elsevierStylePara elsevierViewall">Outros genes t&#234;m sido associados a HAP&#44; particularmente&#58; <span class="elsevierStyleItalic">TBX4</span>&#44; <span class="elsevierStyleItalic">ATP13A3</span>&#44; <span class="elsevierStyleItalic">GDF2</span>&#44; <span class="elsevierStyleItalic">SOX17</span>&#44; <span class="elsevierStyleItalic">AQP1</span>&#44; <span class="elsevierStyleItalic">ACVRL1</span>&#44; <span class="elsevierStyleItalic">SMAD9</span>&#44; <span class="elsevierStyleItalic">ENG</span>&#44; <span class="elsevierStyleItalic">KCNK3</span> e <span class="elsevierStyleItalic">CAV1</span><a class="elsevierStyleCrossRef" href="#bib0735"><span class="elsevierStyleSup">58</span></a>&#46; Variantes no gene <span class="elsevierStyleItalic">EIF2AK4</span> est&#227;o associadas &#224; doen&#231;a pulmonar veno&#8208;oclusiva&#47;hemangiomatose capilar pulmonar<a class="elsevierStyleCrossRef" href="#bib0750"><span class="elsevierStyleSup">61</span></a>&#46;</p></span><span id="sec0270" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0290">Diagn&#243;stico gen&#233;tico</span><p id="par0410" class="elsevierStylePara elsevierViewall">O aconselhamento e o diagn&#243;stico gen&#233;tico devem ser oferecidos aos doentes com HAP heredit&#225;ria ou espor&#225;dica&#47;idiop&#225;tica&#46; Os testes gen&#233;ticos permitem identificar portadores assintom&#225;ticos&#44; mas&#44; dada a penetr&#226;ncia incompleta&#44; n&#227;o &#233; poss&#237;vel&#44; at&#233; &#224; data&#44; predizer quem ir&#225; desenvolver a doen&#231;a&#46; Nestes indiv&#237;duos deve ser considerada a vigil&#226;ncia ecocardiogr&#225;fica<a class="elsevierStyleCrossRefs" href="#bib0740"><span class="elsevierStyleSup">59&#44;62</span></a>&#46; A identifica&#231;&#227;o de variantes no gene <span class="elsevierStyleItalic">EIF2AK4</span> pode evitar a necessidade de realiza&#231;&#227;o de bi&#243;psia pulmonar<a class="elsevierStyleCrossRef" href="#bib0735"><span class="elsevierStyleSup">58</span></a>&#46;</p><p id="par0415" class="elsevierStylePara elsevierViewall">O rastreio pr&#233;&#8208;natal na HAP heredit&#225;ria pode permitir a sele&#231;&#227;o de embri&#245;es por reprodu&#231;&#227;o medicamente assistida<a class="elsevierStyleCrossRef" href="#bib0760"><span class="elsevierStyleSup">63</span></a>&#46;</p></span></span><span id="sec0275" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0295">Morte s&#250;bita card&#237;aca e testes gen&#233;ticos <span class="elsevierStyleItalic">post mortem</span> &#40;&#171;aut&#243;psia molecular&#187;&#41;</span><span id="sec0280" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0300">Defini&#231;&#245;es</span><p id="par0420" class="elsevierStylePara elsevierViewall">A MS &#233; definida como a morte n&#227;o traum&#225;tica&#44; inesperada&#44; ocorrendo dentro de uma hora desde o in&#237;cio de sintomas num indiv&#237;duo aparentemente saud&#225;vel&#46; Nos casos n&#227;o testemunhados&#44; &#233; a morte que ocorre em 24 horas num indiv&#237;duo previamente saud&#225;vel<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a></p><p id="par0425" class="elsevierStylePara elsevierViewall">O conceito de morte s&#250;bita arr&#237;tmica ou SADS &#40;<span class="elsevierStyleItalic">Sudden Arrhythmic Death Syndrome</span>&#41; &#233; utilizado quando a causa de morte permanece desconhecida ou incerta ap&#243;s a realiza&#231;&#227;o da aut&#243;psia&#44; o que ocorre em cerca de 25&#37; a 50&#37; dos casos de MS em jovens<a class="elsevierStyleCrossRefs" href="#bib0765"><span class="elsevierStyleSup">64&#44;65</span></a>&#46;</p><p id="par0430" class="elsevierStylePara elsevierViewall">A morte s&#250;bita em crian&#231;as com idades inferiores a um ano denomina&#8208;se por s&#237;ndrome morte s&#250;bita infantil&#46; Neste per&#237;odo et&#225;rio&#44; considera&#8208;se existir uma inter&#8208;rela&#231;&#227;o complexa entre diversos fatores que promovem a ocorr&#234;ncia da MS&#58; o per&#237;odo cr&#237;tico de desenvolvimento do sistema nervoso aut&#243;nomo&#44; fatores ex&#243;genos &#40;ex&#46; posi&#231;&#227;o no leito&#41;&#44; e a vulnerabilidade individual&#44; incluindo fatores gen&#233;ticos<a class="elsevierStyleCrossRef" href="#bib0775"><span class="elsevierStyleSup">66</span></a>&#46;</p><p id="par0435" class="elsevierStylePara elsevierViewall">A MS &#233; respons&#225;vel por 15&#8208;25&#37; da mortalidade na popula&#231;&#227;o geral e a sua incid&#234;ncia aumenta significativamente com a idade<a class="elsevierStyleCrossRefs" href="#bib0780"><span class="elsevierStyleSup">67&#8211;70</span></a>&#46; Acima dos 40 anos&#44; a doen&#231;a coron&#225;ria explica a maioria dos casos<a class="elsevierStyleCrossRef" href="#bib0800"><span class="elsevierStyleSup">71</span></a>&#44; enquanto nos mais jovens as doen&#231;as card&#237;acas heredit&#225;rias&#44; como as miocardiopatias e as canalopatias&#44; s&#227;o mais frequentes<a class="elsevierStyleCrossRef" href="#bib0790"><span class="elsevierStyleSup">69</span></a>&#46;</p><p id="par0440" class="elsevierStylePara elsevierViewall">As doen&#231;as el&#233;tricas prim&#225;rias &#40;como SQTL&#44; SBr e TVPC&#41; s&#227;o dif&#237;ceis de identificar <span class="elsevierStyleItalic">post mortem</span> e &#233; para o seu diagn&#243;stico que &#233; particularmente &#250;til a &#171;aut&#243;psia molecular&#187;&#46; Na SADS&#44; o teste gen&#233;tico permite a identifica&#231;&#227;o da causa de morte numa percentagem adicional entre 20&#8208;30&#37; dos casos&#46; &#201; importante referir que em doentes previamente diagnosticados com epilepsia&#44; &#233; poss&#237;vel identificar variantes associadas a canalopatias &#40;nomeadamente SQTL e TVPC&#41; em cerca de 20&#37; dos casos<a class="elsevierStyleCrossRef" href="#bib0805"><span class="elsevierStyleSup">72</span></a>&#46;</p></span></span><span id="sec0285" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0305">Aut&#243;psia e testes gen&#233;ticos <span class="elsevierStyleItalic">post mortem</span></span><p id="par0445" class="elsevierStylePara elsevierViewall">Nos casos de MS&#44; a import&#226;ncia do diagn&#243;stico de doen&#231;as card&#237;acas heredit&#225;rias reside na possibilidade de identificar familiares vivos em risco &#40;portadores assintom&#225;ticos&#41;&#44; de forma a intervir precocemente e modificar o curso de vida dos mesmos<a class="elsevierStyleCrossRef" href="#bib0795"><span class="elsevierStyleSup">70</span></a>&#46;</p><p id="par0450" class="elsevierStylePara elsevierViewall">&#201; indica&#231;&#227;o classe I a realiza&#231;&#227;o de aut&#243;psia para investigar a causa de MS<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46; As recomenda&#231;&#245;es para a realiza&#231;&#227;o de aut&#243;psias nestes casos foram recentemente atualizadas pela Sociedade Europeia de Patologia Cardiovascular<a class="elsevierStyleCrossRef" href="#bib0810"><span class="elsevierStyleSup">73</span></a>&#46; Idealmente&#44; deve ser recolhida informa&#231;&#227;o relativa &#224; hist&#243;ria m&#233;dica pessoal e familiar e &#224;s circunst&#226;ncias da morte&#46; O exame card&#237;aco deve ser realizado por um patologista experiente e deve ser obtido material biol&#243;gico para eventual estudo gen&#233;tico&#46; O manuseio deste material requer o consentimento familiar<a class="elsevierStyleCrossRef" href="#bib0815"><span class="elsevierStyleSup">74</span></a>&#46;</p><p id="par0455" class="elsevierStylePara elsevierViewall">O resultado da aut&#243;psia deve ser comunicado &#224; fam&#237;lia&#44; devendo existir redes de referencia&#231;&#227;o que possibilitem a avalia&#231;&#227;o cl&#237;nica adequada das fam&#237;lias&#46; Os testes gen&#233;ticos <span class="elsevierStyleItalic">post mortem</span> s&#243; devem ser realizados ap&#243;s o aconselhamento gen&#233;tico dos familiares<a class="elsevierStyleCrossRef" href="#bib0820"><span class="elsevierStyleSup">75</span></a> e est&#227;o indicados quando se suspeita de doen&#231;a card&#237;aca heredit&#225;ria&#44; seja pelos achados na aut&#243;psia&#44; seja nos casos de SADS &#40;classe IIa&#41;<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46;</p><p id="par0460" class="elsevierStylePara elsevierViewall">No contexto de SADS&#44; o estudo gen&#233;tico deve incluir genes associados a canalopatias e a miocardiopatias&#46; Apesar das miocardiopatias condicionarem altera&#231;&#245;es estruturais no mioc&#225;rdio&#44; estas podem ser muito subtis e n&#227;o detetadas na aut&#243;psia<a class="elsevierStyleCrossRef" href="#bib0825"><span class="elsevierStyleSup">76</span></a>&#46;</p><p id="par0465" class="elsevierStylePara elsevierViewall">Como nos casos de MS n&#227;o existe um fen&#243;tipo definido <span class="elsevierStyleItalic">a priori</span>&#44; a identifica&#231;&#227;o de uma variante gen&#233;tica n&#227;o &#233; muitas vezes suficiente para o estabelecimento da sua patogenicidade&#44; da&#237; a import&#226;ncia da integra&#231;&#227;o com os resultados da avalia&#231;&#227;o familiar<a class="elsevierStyleCrossRef" href="#bib0805"><span class="elsevierStyleSup">72</span></a>&#46;</p></span><span id="sec0290" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0310">Avalia&#231;&#227;o dos familiares</span><p id="par0470" class="elsevierStylePara elsevierViewall">Independentemente da realiza&#231;&#227;o da aut&#243;psia molecular e de acordo com a Sociedade Europeia de Cardiologia&#44; est&#225; recomendado o rastreio de doen&#231;a card&#237;aca nos familiares de 1&#46;&#176; grau de indiv&#237;duos com MS &#40;classe I&#41;<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46; Essa avalia&#231;&#227;o deve incluir primeiramente avalia&#231;&#227;o cl&#237;nica&#44; ECG&#44; prova de esfor&#231;o e ecocardiograma e&#44; num segundo n&#237;vel &#40;dependendo da suspeita cl&#237;nica&#41;&#44; RMC&#44; Holter e prova farmacol&#243;gica com ajmalina&#47;flecainida<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46;</p><p id="par0475" class="elsevierStylePara elsevierViewall">Na aus&#234;ncia de um diagn&#243;stico definitivo&#44; depois de uma avalia&#231;&#227;o sistem&#225;tica &#40;incluindo ou n&#227;o o estudo gen&#233;tico&#41;&#44; os familiares de 1&#46;&#176; grau devem ser acompanhados de forma peri&#243;dica e at&#233; &#224; idade adulta&#44; altura em que a maioria das doen&#231;as j&#225; se expressou fenotipicamente<a class="elsevierStyleCrossRef" href="#bib0490"><span class="elsevierStyleSup">9</span></a>&#46; No entanto&#44; nos casos de aut&#243;psias negativas e estudo molecular negativo a taxa de eventos entre os familiares parece ser baixa<a class="elsevierStyleCrossRef" href="#bib0830"><span class="elsevierStyleSup">77</span></a>&#46;</p></span><span id="sec0295" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0315">Conflitos de interesse</span><p id="par0480" class="elsevierStylePara elsevierViewall">Nada a declarar&#46;</p></span></span>"
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      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "pt" => array:2 [
        "titulo" => "Resumo"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Nos &#250;ltimos anos&#44; tem sido crescente o reconhecimento das causas gen&#233;ticas das doen&#231;as cardiovasculares resultado dos significativos progressos das t&#233;cnicas laboratoriais&#46; Este conhecimento tem permitido a identifica&#231;&#227;o de &#171;novos&#187; fen&#243;tipos e a subclassifica&#231;&#227;o das s&#237;ndromes cl&#237;nicas&#44; tendo impacto nas decis&#245;es terap&#234;uticas e no aconselhamento gen&#233;tico que &#233; facultado &#224;s fam&#237;lias&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">No presente documento descreve&#8208;se o &#171;estado da arte&#187; relativamente &#224;s principais recomenda&#231;&#245;es para testes gen&#233;ticos nas doen&#231;as cardiovasculares&#44; pretendendo&#8208;se providenciar uma ferramenta &#250;til de consulta para cardiologistas e outros profissionais envolvidos na presta&#231;&#227;o nos cuidados de sa&#250;de a doentes com cardiopatias heredit&#225;rias e respetivas fam&#237;lias&#46;</p></span>"
      ]
      "en" => array:2 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">In recent years&#44; the importance of genetic causes of cardiovascular diseases has been increasingly recognized&#44; as the result of significant advances in molecular diagnosis techniques&#46; This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes&#44; impacting the therapeutic approach and genetic counseling offered to affected families&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">This paper describes the state of the art of genetic testing in the main cardiovascular diseases&#44; aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families&#46;</p></span>"
      ]
    ]
    "apendice" => array:1 [
      0 => array:1 [
        "seccion" => array:1 [
          0 => array:4 [
            "apendice" => "<p id="par0495" class="elsevierStylePara elsevierViewall"><elsevierMultimedia ident="upi0005"></elsevierMultimedia></p>"
            "etiqueta" => "Appendix B"
            "titulo" => "Material suplementar"
            "identificador" => "sec0310"
          ]
        ]
      ]
    ]
    "multimedia" => array:3 [
      0 => array:8 [
        "identificador" => "tbl0005"
        "etiqueta" => "Tabela 1"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at1"
            "detalle" => "Tabela "
            "rol" => "short"
          ]
        ]
        "tabla" => array:2 [
          "leyenda" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">ACC &#8211; <span class="elsevierStyleItalic">American College of Cardiology</span>&#59; AHA &#8211; <span class="elsevierStyleItalic">American Heart Association</span>&#59; ECG &#8211; eletrocardiograma&#59; EHRA &#8211; <span class="elsevierStyleItalic">European Heart Rhythm Association</span>&#59; HRS &#8211; <span class="elsevierStyleItalic">Heart Rhythm Society</span>&#59; NE &#8211; n&#237;vel de evid&#234;ncia&#59; R &#8211; n&#237;vel de recomenda&#231;&#227;o&#59; SBr &#8211; S&#237;ndrome de Brugada&#59; SQTC &#8211; s&#237;ndrome do QT curto&#59; SQTL &#8211; s&#237;ndrome do QT longo&#59; TVPC &#8211; taquicardia ventricular polim&#243;rfica catecolamin&#233;rgica&#46;</p>"
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Doen&#231;a&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Recomenda&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">R &#47; NE&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Fonte &#40;ano&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">S&#237;ndrome de Brugada&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#40;<span class="elsevierStyleItalic">SCN5A</span>&#41;&#44; pode ser &#250;til em doentes com SBr estabelecido com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos &#40;ECG de repouso ou ap&#243;s teste de provoca&#231;&#227;o&#41;&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser considerado em doentes com SBr estabelecido ou suspeito&#44; para facilitar o rastreio gen&#233;tico familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico n&#227;o est&#225; recomendado em casos isolados de padr&#227;o de Brugada tipo 2 ou tipo 3&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">III&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">S&#237;ndrome de repolariza&#231;&#227;o precoce&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico n&#227;o est&#225; indicado&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">III&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">S&#237;ndrome do QT longo&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#224;s SQTL 1&#8208;3 &#40;<span class="elsevierStyleItalic">KCNQ1</span>&#44; <span class="elsevierStyleItalic">KCNH2</span> e <span class="elsevierStyleItalic">SCN5A</span>&#41; est&#225; recomendado em indiv&#237;duos assintom&#225;ticos com QTc &#62; 480<span class="elsevierStyleHsp" style=""></span>ms &#40;na pr&#233;&#8208;puberdade&#41; ou &#62; 500<span class="elsevierStyleHsp" style=""></span>ms &#40;adultos&#41;&#44; na aus&#234;ncia de causas secund&#225;rias&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#224;s SQTL 1&#8208;3 &#40;<span class="elsevierStyleItalic">KCNQ1</span>&#44; <span class="elsevierStyleItalic">KCNH2</span> e <span class="elsevierStyleItalic">SCN5A</span>&#41; est&#225; recomendado em indiv&#237;duos com forte suspeita cl&#237;nica de SQTL com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos &#40;ECG de repouso ou ap&#243;s teste de provoca&#231;&#227;o &#8211; exerc&#237;cio ou infus&#227;o de catecolaminas&#41;&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#224;s SQTL 1&#8208;3 &#40;<span class="elsevierStyleItalic">KCNQ1</span>&#44; <span class="elsevierStyleItalic">KCNH2</span> e <span class="elsevierStyleItalic">SCN5A</span>&#41; pode ser considerado em indiv&#237;duos assintom&#225;ticos com QTc &#62; 460<span class="elsevierStyleHsp" style=""></span>ms &#40;na pr&#233;&#8208;puberdade&#41; ou &#62; 480<span class="elsevierStyleHsp" style=""></span>ms &#40;adultos&#41;&#44; na aus&#234;ncia de causas secund&#225;rias&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">S&#237;ndrome do QT curto&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#224;s SQTC 1&#8208;3 &#40;<span class="elsevierStyleItalic">KCNH2&#44; KCNQ1</span> e <span class="elsevierStyleItalic">KCNJ25A</span>&#41; pode ser considerado em indiv&#237;duos com forte suspeita cl&#237;nica de SQTC com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser considerado em doentes com SQTC para facilitar o rastreio gen&#233;tico familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">TVPC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido a TVPC1 ou TVPC2 &#40;<span class="elsevierStyleItalic">RYR2</span> e <span class="elsevierStyleItalic">CASQ2</span>&#41; est&#225; recomendado em indiv&#237;duos com forte suspeita cl&#237;nica de TVPC com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos durante testes provocativos &#40;exerc&#237;cio ou infus&#227;o de catecolaminas&#41;&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser &#250;til em doentes com TVPC e taquicardia ventricular ou s&#237;ncope no exerc&#237;cio&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
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          "pt" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Recomenda&#231;&#245;es para a realiza&#231;&#227;o de testes gen&#233;ticos nas canalopatias</p>"
        ]
      ]
      1 => array:8 [
        "identificador" => "tbl0010"
        "etiqueta" => "Tabela 2"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at2"
            "detalle" => "Tabela "
            "rol" => "short"
          ]
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        "tabla" => array:2 [
          "leyenda" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">ACC &#8211; <span class="elsevierStyleItalic">American College of Cardiology</span>&#59; AHA &#8211; <span class="elsevierStyleItalic">American Heart Association</span>&#59; EHRA &#8211; <span class="elsevierStyleItalic">European Heart Rhythm Association</span>&#59; HFSA &#8211; <span class="elsevierStyleItalic">Heart Failure Society of America</span>&#59; HRS &#8211; <span class="elsevierStyleItalic">Heart Rhythm Society</span>&#59; MCD &#8211; miocardiopatia dilatada&#59; MCH &#8211; miocardiopatia hipertr&#243;fica&#59; MCR &#8211; miocardiopatia restritiva&#59; mod &#8211; evid&#234;ncia moderada&#59; MS &#8211; morte s&#250;bita&#59; NCVE &#8211; n&#227;o&#8208;compacta&#231;&#227;o do ventr&#237;culo esquerdo&#59; NE &#8211; n&#237;vel de evid&#234;ncia&#59; R &#8211; n&#237;vel de recomenda&#231;&#227;o&#46;</p><p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">&#42; Mais recentemente&#44; tem sido reconhecida a diversidade e a sobreposi&#231;&#227;o de fen&#243;tipos &#40;entre MCD e MAVD&#41;&#44; que partilham o mesmo substrato gen&#233;tico e que se associam a risco arr&#237;tmico elevado&#44; originando um novo grupo denominado de &#8220;miocardiopatias arritmog&#233;nicas&#8221; &#40;disfun&#231;&#227;o ventricular associada a arritmias auriculares&#44; ventriculares ou bloqueio aur&#237;culo&#8208;ventricular&#41;&#59; nestes casos est&#225; tamb&#233;m indicado o estudo gen&#233;tico&#44; que deve incluir genes potencialmente arritmog&#233;nicos &#40;ex&#46; DSP&#44; LMNA&#44; SCN5A&#44; PLN&#44; TMEM43&#44; FLNC&#44; RBM20&#44; DES&#41;&#46;</p>"
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Doen&#231;a&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Recomenda&#231;&#227;o&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">R &#47; NE&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Fonte &#40;ano&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Miocardiopatia hipertr&#243;fica&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico est&#225; recomendado em doentes com crit&#233;rios diagn&#243;sticos de MCH para confirma&#231;&#227;o do diagn&#243;stico&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ESC &#40;2014&#41;<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">25</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#40;<span class="elsevierStyleItalic">MYBPC3&#44; MYH7&#44; TNNI3&#44; TNNT2&#44; TPM1</span>&#41; est&#225; recomendado em indiv&#237;duos com diagn&#243;stico cl&#237;nico de MCH com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos e ecocardiogr&#225;ficos&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico para MCH e outras causas de hipertrofia card&#237;aca inexplicada est&#225; recomendado em doentes com apresenta&#231;&#227;o cl&#237;nica at&#237;pica ou quando existe suspeita de outra etiologia gen&#233;tica espec&#237;fica&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ACCF&#47;AHA &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0575"><span class="elsevierStyleSup">26</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico est&#225; recomendado em indiv&#237;duos com o diagn&#243;stico de MCH estabelecido ou clinicamente suspeito&#44; particularmente para facilitar o rastreio familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ACCF&#47;AHA &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0575"><span class="elsevierStyleSup">26</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico em indiv&#237;duos com o diagn&#243;stico <span class="elsevierStyleItalic">bordeline</span>&#44; deve ser efetuado apenas ap&#243;s avalia&#231;&#227;o exaustiva por equipas especializadas&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ESC &#40;2014&#41;<a class="elsevierStyleCrossRef" href="#bib0570"><span class="elsevierStyleSup">25</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico deve ser considerado para o indiv&#237;duo mais claramente afetado dentro da fam&#237;lia para facilitar o rastreio e abordagem familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">HFSA &#40;2018&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Miocardiopatia dilatada&#42;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#40;<span class="elsevierStyleItalic">LMNA</span> e <span class="elsevierStyleItalic">SCN5A</span>&#41; est&#225; recomendado em indiv&#237;duos com diagn&#243;stico de MCD e doen&#231;a significativa do tecido de condu&#231;&#227;o e hist&#243;ria familiar de MS prematura&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico &#233; recomendado nos casos de MCD familiar e nos casos de MCD espor&#225;dica com manifesta&#231;&#245;es particulares&#44; sugestiva de doen&#231;a gen&#233;tica&#47;rara&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">I&#8208;&#95;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ESC &#40;2016&#41;<a class="elsevierStyleCrossRef" href="#bib0565"><span class="elsevierStyleSup">24</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser &#250;til nos doentes com MCD familiar para confirmar o diagn&#243;stico e reconhecer aqueles com maior risco arr&#237;tmico e caracter&#237;sticas sindr&#243;micas&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser &#250;til nos casos de MCD familiar para confirmar o diagn&#243;stico&#44; facilitar o rastreio e planeamento familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">mod&#8208;A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA &#40;2016&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser &#250;til em doentes com MCD familiar ou idiop&#225;tica juntamente com aconselhamento gen&#233;tico&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">mod&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA &#40;2016&#41;<a class="elsevierStyleCrossRef" href="#bib0600"><span class="elsevierStyleSup">31</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico deve ser considerado para o indiv&#237;duo mais claramente afetado dentro da fam&#237;lia para facilitar o rastreio e abordagem familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">HFSA &#40;2018&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Miocardiopatia arritmog&#233;nica do ventr&#237;culo direito&#42;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico&#44; alargado ou dirigido &#40;<span class="elsevierStyleItalic">DSC2&#44; DSG2</span>&#44; <span class="elsevierStyleItalic">DSP&#44; JUP&#44; PKP2&#44; TMEM43</span>&#41;&#58;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; pode ser &#250;til em indiv&#237;duos que cumpram os crit&#233;rios de diagn&#243;stico de MAVD &#40;<span class="elsevierStyleItalic">Task Force 2010&#41;</span>&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; pode ser considerado em doentes com MAVD poss&#237;vel &#40;1 crit&#233;rio <span class="elsevierStyleItalic">major</span> ou 2 crit&#233;rios <span class="elsevierStyleItalic">minor</span> &#40;<span class="elsevierStyleItalic">Task Force 2010&#41;</span>&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; n&#227;o est&#225; recomendado com apenas um crit&#233;rio <span class="elsevierStyleItalic">minor</span> &#40;<span class="elsevierStyleItalic">Task Force 2010&#41;</span>&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8208; III&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser &#250;til em doentes com MAVD clinicamente diagnosticada ou suspeita&#44; para o diagn&#243;stico e rastreio familiar dirigido&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">AHA&#47;ACC&#47;HRS &#40;2017&#41;<a class="elsevierStyleCrossRef" href="#bib0460"><span class="elsevierStyleSup">3</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico deve ser considerado para o indiv&#237;duo mais claramente afetado dentro da fam&#237;lia para facilitar o rastreio e abordagem familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">HFSA &#40;2018&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Miocardiopatia restritiva&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser considerado em indiv&#237;duos com diagn&#243;stico cl&#237;nico de MCR com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos e ecocardiogr&#225;ficos&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIb&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico deve ser considerado para o indiv&#237;duo mais claramente afetado dentro da fam&#237;lia para facilitar o rastreio e abordagem familiar&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">HFSA &#40;2018&#41;<a class="elsevierStyleCrossRef" href="#bib0560"><span class="elsevierStyleSup">23</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">N&#227;o&#8208;compacta&#231;&#227;o do ventr&#237;culo esquerdo&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">O teste gen&#233;tico pode ser considerado em indiv&#237;duos com diagn&#243;stico cl&#237;nico de NCVE com base na hist&#243;ria cl&#237;nica&#44; hist&#243;ria familiar e achados eletrocardiogr&#225;ficos e ecocardiogr&#225;ficos&#46;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">IIa&#8208;C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">EHRA&#47;HRS &#40;2011&#41;<a class="elsevierStyleCrossRef" href="#bib0455"><span class="elsevierStyleSup">2</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
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                      "titulo" => "Standards and guidelines for the interpretation of sequence variants&#58; a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology"
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                      "titulo" => "HRS&#47;EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies&#58; this document was developed as a partnership between the Heart Rhythm Society &#40;HRS&#41; and the European Heart Rhythm Association &#40;EHRA&#41;"
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                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0470"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The definition of the Brugada syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehx490"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2017"
                        "volumen" => "38"
                        "paginaInicial" => "3029"
                        "paginaFinal" => "3034"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0475"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetics of sudden death&#58; focus on inherited channelopathies"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehr082"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2011"
                        "volumen" => "32"
                        "paginaInicial" => "2109"
                        "paginaFinal" => "2118"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0480"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "J wave syndromes"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.hrthm.2009.12.006"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart Rhythm&#46;"
                        "fecha" => "2010"
                        "volumen" => "7"
                        "paginaInicial" => "549"
                        "paginaFinal" => "558"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0485"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "J&#8208;Wave syndromes expert consensus conference report&#58; Emerging concepts and gaps in knowledge"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Europace&#46;"
                        "fecha" => "2017"
                        "volumen" => "19"
                        "paginaInicial" => "665"
                        "paginaFinal" => "694"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0490"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "&#91;2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death&#93;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Kardiol Pol&#46;"
                        "fecha" => "2015"
                        "volumen" => "73"
                        "paginaInicial" => "795"
                        "paginaFinal" => "900"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0495"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "HRS&#47;EHRA&#47;APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes&#58; document endorsed by HRS&#44; EHRA&#44; and APHRS in May 2013 and by ACCF AHA&#44; PACES&#44; and AEPC in June 2013"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.hrthm.2013.05.014"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart Rhythm&#46;"
                        "fecha" => "2013"
                        "volumen" => "10"
                        "paginaInicial" => "1932"
                        "paginaFinal" => "1963"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0500"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The Early Repolarization Pattern&#58; A Consensus Paper"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2015.05.033"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2015"
                        "volumen" => "66"
                        "paginaInicial" => "470"
                        "paginaFinal" => "477"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib0505"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "QTc behavior during exercise and genetic testing for the long&#8208;QT syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.111.062182"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "2011"
                        "volumen" => "124"
                        "paginaInicial" => "2181"
                        "paginaFinal" => "2184"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0510"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genotype&#8208; and phenotype&#8208;guided management of congenital long QT syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.cpcardiol.2013.08.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "Curr Probl Cardiol&#46;"
                        "fecha" => "2013"
                        "volumen" => "38"
                        "paginaInicial" => "417"
                        "paginaFinal" => "455"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0515"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Risk stratification in the long&#8208;QT syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "N Engl J Med&#46;"
                        "fecha" => "2003"
                        "volumen" => "348"
                        "paginaInicial" => "1866"
                        "paginaFinal" => "1874"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0520"
              "etiqueta" => "15"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Impact of genetics on the clinical management of channelopathies"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2013"
                        "volumen" => "62"
                        "paginaInicial" => "169"
                        "paginaFinal" => "180"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0525"
              "etiqueta" => "16"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Risk for life&#8208;threatening cardiac events in patients with genotype&#8208;confirmed long&#8208;QT syndrome and normal&#8208;range corrected QT intervals"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2010.07.038"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2011"
                        "volumen" => "57"
                        "paginaInicial" => "51"
                        "paginaFinal" => "59"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            16 => array:3 [
              "identificador" => "bib0530"
              "etiqueta" => "17"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Alders M&#44; Bikker H&#44; Christiaans I&#46; Long QT Syndrome&#46; 2003 Feb 20 &#91;Updated 2018 Feb 8&#93;&#46; In&#58; Adam MP&#44; Ardinger HH&#44; Pagon RA&#44; et al&#46;&#44; editors&#46; GeneReviews&#174; &#91;Internet&#93;&#46; Seattle &#40;WA&#41;&#58; University of Washington&#44; Seattle&#59; 1993&#8208;2019&#46; Dispon&#237;vel em&#58; https&#58;&#47;&#47;www&#46;ncbi&#46;nlm&#46;nih&#46;gov&#47;books&#47;NBK1129&#46;"
                ]
              ]
            ]
            17 => array:3 [
              "identificador" => "bib0535"
              "etiqueta" => "18"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Tranebjaerg L&#44; Samson RA&#44; Green GE&#46; Jervell and Lange&#8208;Nielson Syndrome&#46; 2002 Jul 29 &#91;Updated 2017 Aug 17&#93;&#46; In&#58; Adam MP&#44; Ardinger HH&#44; Pagon RA&#44; et al&#46;&#44; editors&#46; GeneReviews&#174; &#91;Internet&#93;&#46; Seattle &#40;WA&#41;&#58; University of Washington&#44; Seattle&#59; 1993&#8208;2019&#46; Dispon&#237;vel em&#58; https&#58;&#47;&#47;www&#46;ncbi&#46;nlm&#46;nih&#46;gov&#47;books&#47;NBK1405&#47;&#46;"
                ]
              ]
            ]
            18 => array:3 [
              "identificador" => "bib0540"
              "etiqueta" => "19"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Napolitano C&#44; Splawski I&#44; Timothy KW&#44; et al&#46; Timothy Syndrome&#46; 2006 Feb 15 &#91;Updated 2015 Jul 16&#93;&#46; In&#58; Adam MP&#44; Ardinger HH&#44; Pagon RA&#44; et al&#46;&#44; editors&#46; GeneReviews&#174; &#91;Internet&#93;&#46; Seattle &#40;WA&#41;&#58; University of Washington&#44; Seattle&#59; 1993&#8208;2019&#46; Dispon&#237;vel em&#58; https&#58;&#47;&#47;www&#46;ncbi&#46;nlm&#46;nih&#46;gov&#47;books&#47;NBK1403&#47;&#46;"
                ]
              ]
            ]
            19 => array:3 [
              "identificador" => "bib0545"
              "etiqueta" => "20"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Veerapandiyan A&#44; Statland JM&#44; Tawil R&#46; Andersen&#8208;Tawil Syndrome&#46; 2004 Nov 22 &#91;Updated 2018 Jun 7&#93;&#46; In&#58; Adam MP&#44; Ardinger HH&#44; Pagon RA&#44; et al&#46;&#44; editors&#46; GeneReviews&#174; &#91;Internet&#93;&#46; Seattle &#40;WA&#41;&#58; University of Washington&#44; Seattle&#59; 1993&#8208;2019&#46; Dispon&#237;vel em&#58; https&#58;&#47;&#47;www&#46;ncbi&#46;nlm&#46;nih&#46;gov&#47;books&#47;NBK1264&#47;&#46;"
                ]
              ]
            ]
            20 => array:3 [
              "identificador" => "bib0550"
              "etiqueta" => "21"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "2002"
                        "volumen" => "106"
                        "paginaInicial" => "69"
                        "paginaFinal" => "74"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            21 => array:3 [
              "identificador" => "bib0555"
              "etiqueta" => "22"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [
                          "colaboracion" => "Classification of the cardiomyopathies&#58; a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases"
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehm342"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2008"
                        "volumen" => "29"
                        "paginaInicial" => "270"
                        "paginaFinal" => "276"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            22 => array:3 [
              "identificador" => "bib0560"
              "etiqueta" => "23"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetic Evaluation of Cardiomyopathy&#8208;A Heart Failure Society of America Practice Guideline"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Card Fail&#46;"
                        "fecha" => "2018"
                        "volumen" => "24"
                        "paginaInicial" => "281"
                        "paginaFinal" => "302"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            23 => array:3 [
              "identificador" => "bib0565"
              "etiqueta" => "24"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [
                          "colaboracion" => "Proposal for a revised definition of dilated cardiomyopathy&#44; hypokinetic non&#8208;dilated cardiomyopathy&#44; and its implications for clinical practice&#58; a position statement of the ESC working group on myocardial and pericardial diseases"
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehv727"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2016"
                        "volumen" => "37"
                        "paginaInicial" => "1850"
                        "paginaFinal" => "1858"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            24 => array:3 [
              "identificador" => "bib0570"
              "etiqueta" => "25"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy&#58; the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology &#40;ESC&#41;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:4 [ …4]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehu284"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2014"
                        "volumen" => "35"
                        "paginaInicial" => "2733"
                        "paginaFinal" => "2779"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            25 => array:3 [
              "identificador" => "bib0575"
              "etiqueta" => "26"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "2011 ACCF&#47;AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy&#58; a report of the American College of Cardiology Foundation&#47;American Heart Association Task Force on Practice Guidelines"
                      "autores" => array:1 [
                        0 => array:3 [
                          "colaboracion" => "Developed in collaboration with the American Association for Thoracic Surgery&#44; American Society of Echocardiography&#44; American Society of Nuclear Cardiology&#44; Heart Failure Society of America&#44; Heart Rhythm Society&#44; Society for Cardiovascular Angiography and Interventions&#44; and Society of Thoracic Surgeons&#46;"
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2011"
                        "volumen" => "58"
                        "paginaInicial" => "e212"
                        "paginaFinal" => "e260"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            26 => array:3 [
              "identificador" => "bib0580"
              "etiqueta" => "27"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy&#58; JACC Review Topic of the Week"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2019"
                        "volumen" => "73"
                        "paginaInicial" => "1978"
                        "paginaFinal" => "1986"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            27 => array:3 [
              "identificador" => "bib0585"
              "etiqueta" => "28"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/gim.2017.79"
                      "Revista" => array:6 [
                        "tituloSerie" => "Genet Med&#46;"
                        "fecha" => "2018"
                        "volumen" => "20"
                        "paginaInicial" => "69"
                        "paginaFinal" => "75"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            28 => array:3 [
              "identificador" => "bib0590"
              "etiqueta" => "29"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2016.08.079"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2016"
                        "volumen" => "68"
                        "paginaInicial" => "2871"
                        "paginaFinal" => "2886"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            29 => array:3 [
              "identificador" => "bib0595"
              "etiqueta" => "30"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Guidelines for the study of familial dilated cardiomyopathies Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "1999"
                        "volumen" => "20"
                        "paginaInicial" => "93"
                        "paginaFinal" => "102"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            30 => array:3 [
              "identificador" => "bib0600"
              "etiqueta" => "31"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies&#58; A Scientific Statement From the American Heart Association"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIR.0000000000000455"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "2016"
                        "volumen" => "134"
                        "paginaInicial" => "e579"
                        "paginaFinal" => "e646"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            31 => array:3 [
              "identificador" => "bib0605"
              "etiqueta" => "32"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Diagnosis of arrhythmogenic right ventricular cardiomyopathy&#47;dysplasia&#58; proposed modification of the Task Force Criteria"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehq025"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2010"
                        "volumen" => "31"
                        "paginaInicial" => "806"
                        "paginaFinal" => "814"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            32 => array:3 [
              "identificador" => "bib0610"
              "etiqueta" => "33"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Arrhythmogenic Right Ventricular Cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1056/NEJMra1509267"
                      "Revista" => array:6 [
                        "tituloSerie" => "N Engl J Med&#46;"
                        "fecha" => "2017"
                        "volumen" => "376"
                        "paginaInicial" => "61"
                        "paginaFinal" => "72"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            33 => array:3 [
              "identificador" => "bib0615"
              "etiqueta" => "34"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Diagnostic Criteria Genetics&#44; and Molecular Basis of Arrhythmogenic Cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Heart Fail Clin&#46;"
                        "fecha" => "2018"
                        "volumen" => "14"
                        "paginaInicial" => "201"
                        "paginaFinal" => "213"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            34 => array:3 [
              "identificador" => "bib0620"
              "etiqueta" => "35"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia&#47;cardiomyopathy&#8208;associated mutation carriers"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehu509"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2015"
                        "volumen" => "36"
                        "paginaInicial" => "847"
                        "paginaFinal" => "855"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            35 => array:3 [
              "identificador" => "bib0625"
              "etiqueta" => "36"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Left ventricular noncompaction&#58; a distinct cardiomyopathy or a trait shared by different cardiac diseases&#63;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2014.08.030"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2014"
                        "volumen" => "64"
                        "paginaInicial" => "1840"
                        "paginaFinal" => "1850"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            36 => array:3 [
              "identificador" => "bib0630"
              "etiqueta" => "37"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Left ventricular non&#8208;compaction revisited&#58; a distinct phenotype with genetic heterogeneity&#63;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehq508"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2011"
                        "volumen" => "32"
                        "paginaInicial" => "1446"
                        "paginaFinal" => "1456"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            37 => array:3 [
              "identificador" => "bib0635"
              "etiqueta" => "38"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Echocardiographic and pathoanatomical characteristics of isolated left ventricular non&#8208;compaction&#58; a step towards classification as a distinct cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1136/heart.86.6.666"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart&#46;"
                        "fecha" => "2001"
                        "volumen" => "86"
                        "paginaInicial" => "666"
                        "paginaFinal" => "671"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            38 => array:3 [
              "identificador" => "bib0640"
              "etiqueta" => "39"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Isolated noncompaction of left ventricular myocardium&#46; A study of eight cases"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/01.cir.82.2.507"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "1990"
                        "volumen" => "82"
                        "paginaInicial" => "507"
                        "paginaFinal" => "513"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            39 => array:3 [
              "identificador" => "bib0645"
              "etiqueta" => "40"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Left ventricular hypertrabeculation&#47;noncompaction and association with additional cardiac abnormalities and neuromuscular disorders"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/s0002-9149(02)02723-6"
                      "Revista" => array:6 [
                        "tituloSerie" => "Am J Cardiol&#46;"
                        "fecha" => "2002"
                        "volumen" => "90"
                        "paginaInicial" => "899"
                        "paginaFinal" => "902"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            40 => array:3 [
              "identificador" => "bib0650"
              "etiqueta" => "41"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Refinement of echocardiographic criteria for left ventricular noncompaction"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.ijcard.2011.08.845"
                      "Revista" => array:6 [
                        "tituloSerie" => "Int J Cardiol&#46;"
                        "fecha" => "2013"
                        "volumen" => "165"
                        "paginaInicial" => "463"
                        "paginaFinal" => "467"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            41 => array:3 [
              "identificador" => "bib0655"
              "etiqueta" => "42"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Left ventricular non&#8208;compaction&#58; insights from cardiovascular magnetic resonance imaging"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2005.03.045"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2005"
                        "volumen" => "46"
                        "paginaInicial" => "101"
                        "paginaFinal" => "105"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            42 => array:3 [
              "identificador" => "bib0660"
              "etiqueta" => "43"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non&#8208;compaction"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehp595"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2010"
                        "volumen" => "31"
                        "paginaInicial" => "1098"
                        "paginaFinal" => "1104"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            43 => array:3 [
              "identificador" => "bib0665"
              "etiqueta" => "44"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Reduced left ventricular compacta thickness&#58; a novel echocardiographic criterion for non&#8208;compaction cardiomyopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Am Soc Echocardiogr&#46;"
                        "fecha" => "2012"
                        "volumen" => "25"
                        "paginaInicial" => "1050"
                        "paginaFinal" => "1057"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            44 => array:3 [
              "identificador" => "bib0670"
              "etiqueta" => "45"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Quantification of left ventricular trabeculae using fractal analysis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1186/1532-429X-15-36"
                      "Revista" => array:5 [
                        "tituloSerie" => "J Cardiovasc Magn Reson&#46;"
                        "fecha" => "2013"
                        "volumen" => "15"
                        "paginaInicial" => "36"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            45 => array:3 [
              "identificador" => "bib0675"
              "etiqueta" => "46"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Left ventricular noncompaction&#58; a genetic cardiomyopathy looking for diagnostic criteria"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2014.08.034"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2014"
                        "volumen" => "64"
                        "paginaInicial" => "1981"
                        "paginaFinal" => "1983"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            46 => array:3 [
              "identificador" => "bib0680"
              "etiqueta" => "47"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Aetiology and management of hereditary aortopathy"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/nrcardio.2016.211"
                      "Revista" => array:6 [
                        "tituloSerie" => "Nat Rev Cardiol&#46;"
                        "fecha" => "2017"
                        "volumen" => "14"
                        "paginaInicial" => "197"
                        "paginaFinal" => "208"
                        "link" => array:1 [
                          0 => array:2 [ …2]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            47 => array:3 [
              "identificador" => "bib0685"
              "etiqueta" => "48"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Mulder BJM&#44; van de Laar IMBH&#44; de Backer J&#46; Heritable Thoracic Aortic Disorders&#46; Em&#58; Baars HF&#44; Doevendans PAFM&#44; Houweling AC&#44; Tintelen JP&#44; editors&#46; Clinical Cardiogenetics&#46; 2<span class="elsevierStyleHsp" style=""></span>&#170;ed&#46; Sui&#231;a&#58; Springer 2016&#46; P263&#8208;94&#46;"
                ]
              ]
            ]
            48 => array:3 [
              "identificador" => "bib0690"
              "etiqueta" => "49"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "2014 ESC Guidelines on the diagnosis and treatment of aortic diseases&#58; Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology &#40;ESC&#41;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [ …3]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehu281"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2014"
                        "volumen" => "35"
                        "paginaInicial" => "2873"
                        "paginaFinal" => "2926"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            49 => array:3 [
              "identificador" => "bib0695"
              "etiqueta" => "50"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population&#58; guidance for clinicians to prevent coronary heart disease&#58; consensus statement of the European Atherosclerosis Society"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/eht273"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2013"
                        "volumen" => "34"
                        "paginaInicial" => "3478"
                        "paginaFinal" => "3490"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            50 => array:3 [
              "identificador" => "bib0700"
              "etiqueta" => "51"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Risk of fatal coronary heart disease in familial hypercholesterolaemia&#46; Scientific Steering Committee on behalf of the Simon Broome Register Group&#46; BMJ&#46; 1991&#59;303&#40;6807&#41;&#58;893&#8208;6&#46;"
                ]
              ]
            ]
            51 => array:3 [
              "identificador" => "bib0705"
              "etiqueta" => "52"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Advanced method for the identification of patients with inherited hypercholesterolemia"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1055/s-2004-822987"
                      "Revista" => array:6 [
                        "tituloSerie" => "Semin Vasc Med&#46;"
                        "fecha" => "2004"
                        "volumen" => "4"
                        "paginaInicial" => "59"
                        "paginaFinal" => "65"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            52 => array:3 [
              "identificador" => "bib0710"
              "etiqueta" => "53"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical Genetic Testing for Familial Hypercholesterolemia&#58; JACC Scientific Expert Panel"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2018.05.044"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2018"
                        "volumen" => "72"
                        "paginaInicial" => "662"
                        "paginaFinal" => "680"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            53 => array:3 [
              "identificador" => "bib0715"
              "etiqueta" => "54"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "NICE NCC for PC&#46; Identification and Management of Familial Hypercholesterolaemia NICE Clinical Guideline 71&#46; London&#58; National Institute for Health and Clinical Excellence&#46; P45&#46; 2008"
                ]
              ]
            ]
            54 => array:3 [
              "identificador" => "bib0720"
              "etiqueta" => "55"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Birth prevalence of congenital heart disease worldwide&#58; a systematic review and meta&#8208;analysis"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2011.08.025"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2011"
                        "volumen" => "58"
                        "paginaInicial" => "2241"
                        "paginaFinal" => "2247"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            55 => array:3 [
              "identificador" => "bib0725"
              "etiqueta" => "56"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1161/CIRCULATIONAHA.113.008396"
                      "Revista" => array:6 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "2014"
                        "volumen" => "130"
                        "paginaInicial" => "749"
                        "paginaFinal" => "756"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
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            56 => array:3 [
              "identificador" => "bib0730"
              "etiqueta" => "57"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Haemodynamic definitions and updated clinical classification of pulmonary hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1183/13993003.01184-2018"
                      "Revista" => array:5 [
                        "tituloSerie" => "Eur Respir J&#46;"
                        "fecha" => "2019"
                        "volumen" => "53"
                        "numero" => "1&#46;"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            57 => array:3 [
              "identificador" => "bib0735"
              "etiqueta" => "58"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetics and genomics of pulmonary arterial hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "Eur Respir J&#46;"
                        "fecha" => "2019"
                        "volumen" => "53"
                        "numero" => "1&#46;"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            58 => array:3 [
              "identificador" => "bib0740"
              "etiqueta" => "59"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetics and genomics of pulmonary arterial hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2013.10.035"
                      "Revista" => array:7 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2013"
                        "volumen" => "62"
                        "numero" => "25 Suppl"
                        "paginaInicial" => "D13"
                        "paginaFinal" => "D21"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            59 => array:3 [
              "identificador" => "bib0745"
              "etiqueta" => "60"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Am J Respir Crit Care Med&#46;"
                        "fecha" => "2012"
                        "volumen" => "186"
                        "paginaInicial" => "892"
                        "paginaFinal" => "896"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            60 => array:3 [
              "identificador" => "bib0750"
              "etiqueta" => "61"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "EIF2AK4 mutations cause pulmonary veno&#8208;occlusive disease&#44; a recessive form of pulmonary hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Nat Genet&#46;"
                        "fecha" => "2014"
                        "volumen" => "46"
                        "paginaInicial" => "65"
                        "paginaFinal" => "69"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            61 => array:3 [
              "identificador" => "bib0755"
              "etiqueta" => "62"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The Fifth World Symposium on Pulmonary Hypertension"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2013.10.030"
                      "Revista" => array:7 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2013"
                        "volumen" => "62"
                        "numero" => "25 Suppl"
                        "paginaInicial" => "D1"
                        "paginaFinal" => "D3"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            62 => array:3 [
              "identificador" => "bib0760"
              "etiqueta" => "63"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Pre&#8208;implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1183/09031936.00185011"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Respir J&#46;"
                        "fecha" => "2012"
                        "volumen" => "39"
                        "paginaInicial" => "1534"
                        "paginaFinal" => "1535"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            63 => array:3 [
              "identificador" => "bib0765"
              "etiqueta" => "64"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Cardiovascular causes of sudden unexpected death in children and adolescents &#40;0&#8208;17 years&#41;&#58; A nationwide autopsy study in the Netherlands"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s12471-018-1152-y"
                      "Revista" => array:6 [
                        "tituloSerie" => "Neth Heart J&#46;"
                        "fecha" => "2018"
                        "volumen" => "26"
                        "paginaInicial" => "500"
                        "paginaFinal" => "505"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            64 => array:3 [
              "identificador" => "bib0770"
              "etiqueta" => "65"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Sudden cardiac death in the young&#58; the molecular autopsy and a practical approach to surviving relatives"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehv063"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2015"
                        "volumen" => "36"
                        "paginaInicial" => "1290"
                        "paginaFinal" => "1296"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            65 => array:3 [
              "identificador" => "bib0775"
              "etiqueta" => "66"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Cardiac Genetic Predisposition in Sudden Infant Death Syndrome"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2018"
                        "volumen" => "71"
                        "paginaInicial" => "1217"
                        "paginaFinal" => "1227"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            66 => array:3 [
              "identificador" => "bib0780"
              "etiqueta" => "67"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Out&#8208;of&#8208;hospital cardiac arrest in the 1990&#39;s&#58; a population&#8208;based study in the Maastricht area on incidence&#44; characteristics and survival"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/s0735-1097(97)00355-0"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "1997"
                        "volumen" => "30"
                        "paginaInicial" => "1500"
                        "paginaFinal" => "1505"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            67 => array:3 [
              "identificador" => "bib0785"
              "etiqueta" => "68"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The spectrum of epidemiology underlying sudden cardiac death"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Circ Res&#46;"
                        "fecha" => "2015"
                        "volumen" => "116"
                        "paginaInicial" => "1887"
                        "paginaFinal" => "1906"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            68 => array:3 [
              "identificador" => "bib0790"
              "etiqueta" => "69"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Epidemiology of Sudden Cardiac Death&#58; Global and Regional Perspectives"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.hlc.2018.08.026"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart Lung Circ&#46;"
                        "fecha" => "2019"
                        "volumen" => "28"
                        "paginaInicial" => "6"
                        "paginaFinal" => "14"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            69 => array:3 [
              "identificador" => "bib0795"
              "etiqueta" => "70"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Post mortem genetic test&#44; the clinical diagnosis is not fade with the death of the patient"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.repc.2018.12.004"
                      "Revista" => array:6 [
                        "tituloSerie" => "Rev Port Cardiol&#46;"
                        "fecha" => "2019"
                        "volumen" => "38"
                        "paginaInicial" => "503"
                        "paginaFinal" => "509"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            70 => array:3 [
              "identificador" => "bib0800"
              "etiqueta" => "71"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Sudden cardiac death"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "1998"
                        "volumen" => "98"
                        "paginaInicial" => "2334"
                        "paginaFinal" => "2351"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            71 => array:3 [
              "identificador" => "bib0805"
              "etiqueta" => "72"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Utility of Post&#8208;Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2017.02.046"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2017"
                        "volumen" => "69"
                        "paginaInicial" => "2134"
                        "paginaFinal" => "2145"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            72 => array:3 [
              "identificador" => "bib0810"
              "etiqueta" => "73"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Guidelines for autopsy investigation of sudden cardiac death&#58; 2017 update from the Association for European Cardiovascular Pathology"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s00428-017-2221-0"
                      "Revista" => array:6 [
                        "tituloSerie" => "Virchows Arch&#46;"
                        "fecha" => "2017"
                        "volumen" => "471"
                        "paginaInicial" => "691"
                        "paginaFinal" => "705"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            73 => array:3 [
              "identificador" => "bib0815"
              "etiqueta" => "74"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [ …3]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Swiss Med Wkly&#46;"
                        "fecha" => "2009"
                        "volumen" => "139"
                        "numero" => "49&#8211;50"
                        "paginaInicial" => "712"
                        "paginaFinal" => "718"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            74 => array:3 [
              "identificador" => "bib0820"
              "etiqueta" => "75"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Molecular autopsy in victims of inherited arrhythmias"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.joa.2015.09.010"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Arrhythm&#46;"
                        "fecha" => "2016"
                        "volumen" => "32"
                        "paginaInicial" => "359"
                        "paginaFinal" => "365"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            75 => array:3 [
              "identificador" => "bib0825"
              "etiqueta" => "76"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Sudden infant death syndrome caused by cardiac arrhythmias&#58; only a matter of genes encoding ion channels&#63;"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s00414-016-1330-7"
                      "Revista" => array:6 [
                        "tituloSerie" => "Int J Legal Med&#46;"
                        "fecha" => "2016"
                        "volumen" => "130"
                        "paginaInicial" => "415"
                        "paginaFinal" => "420"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            76 => array:3 [
              "identificador" => "bib0830"
              "etiqueta" => "77"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Low rate of cardiac events in first&#8208;degree relatives of diagnosis&#8208;negative young sudden unexplained death syndrome victims during follow&#8208;up"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.hrthm.2014.05.028"
                      "Revista" => array:6 [
                        "tituloSerie" => "Heart Rhythm&#46;"
                        "fecha" => "2014"
                        "volumen" => "11"
                        "paginaInicial" => "1728"
                        "paginaFinal" => "1732"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            77 => array:3 [
              "identificador" => "bib0835"
              "etiqueta" => "78"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [ …3]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehs397"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2013"
                        "volumen" => "34"
                        "paginaInicial" => "1448"
                        "paginaFinal" => "1458"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            78 => array:3 [
              "identificador" => "bib0840"
              "etiqueta" => "79"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [ …3]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehq271"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2010"
                        "volumen" => "31"
                        "paginaInicial" => "2715"
                        "paginaFinal" => "2726"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            79 => array:3 [
              "identificador" => "bib0845"
              "etiqueta" => "80"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The revised Ghent nosology for the Marfan syndrome"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Med Genet&#46;"
                        "fecha" => "2010"
                        "volumen" => "47"
                        "paginaInicial" => "476"
                        "paginaFinal" => "485"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            80 => array:3 [
              "identificador" => "bib0850"
              "etiqueta" => "81"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "ESC Guidelines for the management of grown&#8208;up congenital heart disease &#40;new version 2010&#41;"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/eurheartj/ehq249"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur Heart J&#46;"
                        "fecha" => "2010"
                        "volumen" => "31"
                        "paginaInicial" => "2915"
                        "paginaFinal" => "2957"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            81 => array:3 [
              "identificador" => "bib0855"
              "etiqueta" => "82"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:1 [
                      "autores" => array:1 [
                        0 => array:3 [ …3]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2008.10.001"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2008"
                        "volumen" => "52"
                        "paginaInicial" => "e143"
                        "paginaFinal" => "e263"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            82 => array:3 [
              "identificador" => "bib0860"
              "etiqueta" => "83"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "2018 AHA&#47;ACC Guideline for the Management of Adults With Congenital Heart Disease&#58; A Report of the American College of Cardiology&#47;American Heart Association Task Force on Clinical Practice Guidelines"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2016.02.054"
                      "Revista" => array:3 [
                        "tituloSerie" => "J Am Coll Cardiol&#46;"
                        "fecha" => "2018"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            83 => array:3 [
              "identificador" => "bib0865"
              "etiqueta" => "84"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Goodship J&#44; Wren C&#46; Congenital cardiovascular malformations&#46; Kumar D&#44; Elliott P&#44; editors&#46; Principles and Practice of Clinical Cardiovascular Genetics&#46; 7<span class="elsevierStyleHsp" style=""></span>&#170; ed&#46; Nova Iorque&#58; Oxford 2010&#46; P130&#8208;50&#46;"
                ]
              ]
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            84 => array:3 [
              "identificador" => "bib0870"
              "etiqueta" => "85"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Genetic Basis for Congenital Heart Disease&#58; Revisited&#58; A Scientific Statement From the American Heart Association"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Circulation&#46;"
                        "fecha" => "2018"
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                        "paginaInicial" => "e653"
                        "paginaFinal" => "e711"
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              "identificador" => "bib0875"
              "etiqueta" => "86"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Noonan syndrome"
                      "autores" => array:1 [
                        0 => array:2 [ …2]
                      ]
                    ]
                  ]
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                    0 => array:2 [
                      "doi" => "10.1016/S0140-6736(12)61023-X"
                      "Revista" => array:6 [
                        "tituloSerie" => "Lancet&#46;"
                        "fecha" => "2013"
                        "volumen" => "381"
                        "paginaInicial" => "333"
                        "paginaFinal" => "342"
                        "link" => array:1 [ …1]
                      ]
                    ]
                  ]
                ]
              ]
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              "etiqueta" => "87"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hypoplastic left heart syndrome is heritable"
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                        0 => array:2 [ …2]
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                    ]
                  ]
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                    0 => array:2 [
                      "doi" => "10.1016/j.jacc.2007.07.021"
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                        "tituloSerie" => "J Am Coll Cardiol&#46;"
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                        "paginaInicial" => "1590"
                        "paginaFinal" => "1595"
                        "link" => array:1 [ …1]
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                    0 => array:2 [
                      "titulo" => "Genetics and genetic testing in congenital heart disease"
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                        0 => array:2 [ …2]
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                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Clin Perinatol&#46;"
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                        "volumen" => "42"
                        "paginaInicial" => "373"
                        "paginaFinal" => "393"
                      ]
                    ]
                  ]
                ]
              ]
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                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Congenital Heart Disease&#58; Genetics&#46; Em&#58; Cardiovascular Diseases&#58; Genetics Epidemiology and Prevention"
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                        0 => array:2 [ …2]
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