艾默里-德雷弗斯肌萎缩症（EDMD）由EMD（EDMD1）和LMNA（EDMD2）基因变异引起。心脏传导障碍和房颤在两种病症中普遍存在，而LMNA基因变异还会导致晚期心力衰竭（ESHF）和恶性室性心律失常（MVA）。本研究旨在更好地描述EMD基因变异的心脏并发症。连续转诊的EMD基因变异携带者被回顾性地从全球12个心肌病单位招募。男性和女性基因变异携带者的MVA和ESHF发生率被确定。将基线具有心脏表型的男性EMD基因变异携带者（EMDCARDIAC）与基线具有心脏表型的连续招募的男性LMNA基因变异携带者（LMNACARDIAC）进行比较。长期随访资料可用于38名男性和21名女性EMD基因变异携带者（平均[标准差]年龄分别为33.4 [13.3]岁和43.3 [16.8]岁）。在中位数[四分位数]随访65.0 [24.3, 109.5]个月期间，9名（23.6%）男性发生了MVA，5名（13.2%）发生了ESHF。没有女性EMD基因变异携带者出现MVA或ESHF，但有9名（42.8%）女性在中位数[四分位数]年龄为58.6 [53.2, 60.4]岁时出现了心脏表型。EMDCARDIAC和LMNACARDIAC的MVA发病率相似（分别为100人年4.8和6.6，对数秩和检验p=0.49）。EMDCARDIAC和LMNACARDIAC的ESHF发病率分别为100人年2.4和5.9（对数秩和检验p=0.09）。男性EMD基因变异携带者与男性LMNA基因变异携带者一样，有患进行性心力衰竭和室性心律失常的风险。在男性EMD基因变异携带者中，应考虑早期植入心脏除颤器和心力衰竭药物治疗。© 2023 作者。由牛津大学出版社代表欧洲心脏病学会出版。

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.© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.