{"doi":"10.1093/eurheartj/ehad561","title":"Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure","abstract":"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 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.","journal":"European Heart Journal","year":2023,"id":335567,"datarank":0.4566783656585135,"base_score":3.044522437723423,"endowment":3.044522437723423,"self_citation_contribution":0.4566783656585135,"citation_network_contribution":0.0,"self_endowment_contribution":0.4566783656585135,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":20,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9657,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":552181,"name":"Petros Syrris","orcid":"0000-0002-2363-8758","position":1,"is_corresponding":false},{"id":552180,"name":"Alexandros Protonotarios","orcid":"0000-0001-8595-7212","position":2,"is_corresponding":false},{"id":1045164,"name":"Athanasios Bakalakos","orcid":"0009-0006-6356-2205","position":3,"is_corresponding":false},{"id":1066048,"name":"Jean-François Pruny","orcid":null,"position":4,"is_corresponding":false},{"id":1065425,"name":"Raffaello Ditaranto","orcid":"0000-0001-7025-0679","position":5,"is_corresponding":false},{"id":1066049,"name":"Cristina Martinez‐Veira","orcid":null,"position":6,"is_corresponding":false},{"id":1045170,"name":"José M. Larrañaga‐Moreira","orcid":"0000-0003-4642-4098","position":7,"is_corresponding":false},{"id":849695,"name":"Kristen Medo","orcid":"0009-0007-9785-4668","position":8,"is_corresponding":false},{"id":1065426,"name":"Francisco Bermúdez-Jiménez","orcid":"0000-0003-0325-7349","position":9,"is_corresponding":false},{"id":689552,"name":"Rabah Ben Yaou","orcid":"0000-0002-0492-3414","position":10,"is_corresponding":false},{"id":368048,"name":"France Leturcq","orcid":null,"position":11,"is_corresponding":false},{"id":1065427,"name":"Ainhoa Robles Mezcua","orcid":"0000-0001-6212-9959","position":12,"is_corresponding":false},{"id":297628,"name":"Chiara Marini‐Bettolo","orcid":"0000-0002-1425-7443","position":13,"is_corresponding":false},{"id":1065428,"name":"Eva Cabrera","orcid":"0000-0002-6758-8828","position":14,"is_corresponding":false},{"id":129025,"name":"Chloe Reuter","orcid":"0000-0002-0429-9922","position":15,"is_corresponding":false},{"id":1065429,"name":"Javier Limeres Freire","orcid":"0000-0003-3644-9494","position":16,"is_corresponding":false},{"id":1065430,"name":"José F. 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