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Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
- Source :
-
European heart journal [Eur Heart J] 2023 Dec 21; Vol. 44 (48), pp. 5064-5073. - Publication Year :
- 2023
-
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.<br />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).<br />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).<br />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.<br /> (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)
- Subjects :
- Humans
Male
Female
Middle Aged
Retrospective Studies
Arrhythmias, Cardiac epidemiology
Arrhythmias, Cardiac genetics
Arrhythmias, Cardiac complications
Mutation
X-Linked Emery-Dreifuss Muscular Dystrophy complications
Heart Diseases complications
Muscular Dystrophy, Emery-Dreifuss complications
Muscular Dystrophy, Emery-Dreifuss genetics
Muscular Dystrophy, Emery-Dreifuss pathology
Heart Failure etiology
Heart Failure complications
Subjects
Details
- Language :
- English
- ISSN :
- 1522-9645
- Volume :
- 44
- Issue :
- 48
- Database :
- MEDLINE
- Journal :
- European heart journal
- Publication Type :
- Academic Journal
- Accession number :
- 37639473
- Full Text :
- https://doi.org/10.1093/eurheartj/ehad561