TY - JOUR T1 - Holt-Oram syndrome: A case report JO - Revista Portuguesa de Cardiologia T2 - AU - Chin,Joana AU - Pereira,Salomé AU - Camacho,Ana AU - Pessoa,Bernardo AU - Bento,Dina AU - Amado,José AU - Pereira,Jorge AU - de Jesus,Ilídio SN - 08702551 M3 - 10.1016/j.repc.2014.06.005 DO - 10.1016/j.repc.2014.06.005 UR - https://www.revportcardiol.org/pt-holt-oram-syndrome-a-case-report-articulo-S0870255114002571 AB - Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-old man with known morphological alterations of the upper limbs since birth and congenital cardiac defect (atrial septal defect), who later in life also manifested with advanced atrioventricular block. ER -