TY - JOUR T1 - Screening for Fabry disease in patients with left ventricular noncompaction JO - Revista Portuguesa de Cardiologia (English edition) T2 - AU - Azevedo,Olga AU - Marques,Nuno AU - Craveiro,Nuno AU - Pereira,Ana Rita AU - Antunes,Hugo AU - Reis,Liliana AU - Guerreiro,Rui Azevedo AU - Pontes dos Santos,Rui AU - Miltenberger-Miltenyi,Gabriel AU - Sousa,Nuno AU - Cunha,Damião SN - 21742049 M3 - 10.1016/j.repce.2020.01.008 DO - 10.1016/j.repce.2020.01.008 UR - https://www.revportcardiol.org/en-screening-for-fabry-disease-in-articulo-S2174204920300106 AB - Introduction and AimIt is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC. MethodsWe performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing. ResultsThe study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case. ConclusionNo additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD. ER -