Martínez-Veira, CristinaCannie, Douglas E.Syrris, PetrosProtonotarios, AlexandrosBakalakos, AthanasiosPruny, Jean-FrançoisDitaranto, RafaelloLarrañaga Moreira, José MaríaMedo, KristenBermúdez-Jiménez, Francisco J.Ben Yaou, RabahLeturcq, FranceRobles-Mezcua, AinhoaMarini-Betolo, ChiaraCabrera, EvaReuter, ChloeLimeres-Freire, JavierRodríguez-Palomares, José FernandoMestroni, LuisaTaylor, Matthew R.G.Parikh, Victoria N.Ashley, Euan A.Barriales-Villa, RobertoJiménez-Jáimez, JuanGarcía-Pavía, PabloCharron, PhilippeBiagini, ElenaGarcía-Pinilla, José ManuelBourke, JohnSavvatis, KonstantinosWahbi, KarimElliott, Perry M.2023-10-112023-10-112023-08-28Douglas E Cannie, Petros Syrris, Alexandros Protonotarios, Athanasios Bakalakos, Jean-François Pruny, Raffaello Ditaranto, Cristina Martinez-Veira, Jose M Larrañaga-Moreira, Kristen Medo, Francisco José Bermúdez-Jiménez, Rabah Ben Yaou, France Leturcq, Ainhoa Robles Mezcua, Chiara Marini-Bettolo, Eva Cabrera, Chloe Reuter, Javier Limeres Freire, José F Rodríguez-Palomares, Luisa Mestroni, Matthew R G Taylor, Victoria N Parikh, Euan A Ashley, Roberto Barriales-Villa, Juan Jiménez-Jáimez, Pablo Garcia-Pavia, Philippe Charron, Elena Biagini, José M García Pinilla, John Bourke, Konstantinos Savvatis, Karim Wahbi, Perry M Elliott, Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure, European Heart Journal, 2023;, ehad561, https://doi.org/10.1093/eurheartj/ehad561http://hdl.handle.net/2183/33718[Abstract] 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 characterize the cardiac complications of EMD variants. Methods Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with 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 (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) 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 (inter-quartile range) 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 = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .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.engAtribución-NoComercial 3.0 Españahttp://creativecommons.org/licenses/by-nc/3.0/es/Emery–Dreifuss muscular dystrophyDistrofia muscular de Emery-DreifussEmerinEmerinaCardiomyopathyCardiomiopatíaSudden deathMuerte súbitaVentricular arrhythmiaArritmia ventricularHeart failureInfartojournal articleopen access