Cannie, Douglas ESyrris, PetrosProtonotarios, AlexandrosBakalakos, AthanasiosPruny, Jean-FrançoisDitaranto, RaffaelloMartinez-Veira, CristinaLarrañaga-Moreira, Jose MMedo, KristenBermúdez-Jiménez, Francisco JoséBen Yaou, RabahLeturq, FranceMezcua, Ainhoa RoblesMarini-Bettolo, ChiaraCabrera, EvaReuter, ChloeLimeres Freire, JavierRodríguez-Palomares, José FMestroni, LuisaTaylor, Matthew R GParikh, Victoria NAshley, Euan ABarriales-Villa, RobertoJiménez-Jáimez, JuanGarcia-Pavia, PabloCharron, PhilippeBiagini, ElenaGarcía Pinilla, José MBourke, JohnSavvatis, KonstantinosWahbi, KarimElliott, Perry M2023-10-172023-10-172023-08-28Eur Heart J. 2023 Aug 28:ehad561.http://hdl.handle.net/20.500.12105/16575BACKGROUND 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.engVoRhttp://creativecommons.org/licenses/by-sa/4.0/Atribución-CompartirIgual 4.0 Internacional3763947310.1093/eurheartj/ehad5611522-9645European heart journalopen access