Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. European heart journal Cannie, D. E., Syrris, P., Protonotarios, A., Bakalakos, A., Pruny, J. F., Ditaranto, R., Martinez-Veira, C., Larrañaga-Moreira, J. M., Medo, K., Bermúdez-Jiménez, F. J., Ben Yaou, R., Leturq, F., Mezcua, A. R., Marini-Bettolo, C., Cabrera, E., Reuter, C., Limeres Freire, J., Rodríguez-Palomares, J. F., Mestroni, L., Taylor, M. R., Parikh, V. N., Ashley, E. A., Barriales-Villa, R., Jiménez-Jáimez, J., Garcia-Pavia, P., Charron, P., Biagini, E., García Pinilla, J. M., Bourke, J., Savvatis, K., Wahbi, K., Elliott, P. M. 2023


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.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).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).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.

View details for DOI 10.1093/eurheartj/ehad561

View details for PubMedID 37639473