Author/Authors :
Adadi, Najlae Research Center in Genomics of Human Pathologies (GENOPATH) - Faculty of Medicine and Pharmacy - Mohammed V University in Rabat - Rabat - Morocco , Zohra Radi, Fatima Department of Experimental Cardiology - Heart Center - Amsterdam Medical Center - University of Amsterdam - Amsterdam - The Netherlands , Lahrouchi, Najim Department of Clinical Genetics - Academic Medical Center - University of Amsterdam – Amsterdam - The Netherlands , Hara, Loubna Department of Experimental Cardiology - Heart Center - Amsterdam Medical Center - University of Amsterdam - Amsterdam - The Netherlands , Ratbi, Ilham Research Center in Genomics of Human Pathologies (GENOPATH) - Faculty of Medicine and Pharmacy - Mohammed V University in Rabat - Rabat - Morocco , Elalaoui, Siham Chafai Research Center in Genomics of Human Pathologies (GENOPATH) - Faculty of Medicine and Pharmacy - Mohammed V University in Rabat - Rabat - Morocco , Alders, Marielle Department of Medical Genetics - National Institute of Health - Rabat - Morocco , Zarzur, Jamila Department of Experimental Cardiology - Heart Center - Amsterdam Medical Center - University of Amsterdam - Amsterdam - The Netherlands , Bezzina, Connie Department of Clinical Genetics - Academic Medical Center - University of Amsterdam – Amsterdam - The Netherlands , Sefiani, Abdelaziz Department of Cardiology B - Mohammed V University - Souissi - Rabat - Morocco
Abstract :
Dilated cardiomyopathy (DCM) is characterized by left ventricular (LV) dilatation and subsequent systolic dysfunction,
with a prevalence of 1/2500 in the general population. Some
cases are asymptomatic, while others exhibit severe heart failure (HF) (1, 2). In 20%-50% cases, DCM is inherited in an autosomal dominant manner (3), and nearly 60 different genes are
involved (3). Among them, involvement of TTN gene is the most
prevalent (40%), followed by that of LMNA gene (10%) (2, 4).
Here we present a family with DCM, some members of
which suffered sudden cardiac death (SCD); we identified a
deleterious LMNA mutation through genetic testing using nextgeneration multigene panel in the members of this family
Keywords :
Cardiomyopathies , Dilated Cardiomyopathy , LMNA gene , mutation , Moroccan family
