2026-04-23T15:32:53Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/165752024-09-27T08:07:53Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Cannie, Douglas E author Syrris, Petros author Protonotarios, Alexandros author Bakalakos, Athanasios author Pruny, Jean-François author Ditaranto, Raffaello author Martinez-Veira, Cristina author Larrañaga-Moreira, Jose M author Medo, Kristen author Bermúdez-Jiménez, Francisco José author Ben Yaou, Rabah author Leturq, France author Mezcua, Ainhoa Robles author Marini-Bettolo, Chiara author Cabrera, Eva author Reuter, Chloe author Limeres Freire, Javier author Rodríguez-Palomares, José F author Mestroni, Luisa author Taylor, Matthew R G author Parikh, Victoria N author Ashley, Euan A author Barriales-Villa, Roberto author Jiménez-Jáimez, Juan author Garcia-Pavia, Pablo author Charron, Philippe author Biagini, Elena author García Pinilla, José M author Bourke, John author Savvatis, Konstantinos author Wahbi, Karim author Elliott, Perry M author 2023-08-28 BACKGROUND AND AIMS Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterise the cardiac complications of EMD variants. METHODS Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidence in male and female variant-carriers was determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared to consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers (mean [SD] ages 33.4 [13.3] and 43.3 [16.8] years, respectively). Nine (23.6%) males developed MVA and five (13.2%) developed ESHF during a median [IQR] follow-up of 65.0 [24.3, 109.5] months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median [IQR] age of 58.6 [53.2, 60.4] years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank p = 0.49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank p = 0.09). CONCLUSIONS Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease. Eur Heart J. 2023 Aug 28:ehad561. http://hdl.handle.net/20.500.12105/16575 37639473 10.1093/eurheartj/ehad561 1522-9645 European heart journal Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure.