Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/16575
Título
Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure.
Autor(es)
Cannie, Douglas E | Syrris, Petros | Protonotarios, Alexandros | Bakalakos, Athanasios | Pruny, Jean-François | Ditaranto, Raffaello | Martinez-Veira, Cristina | Larrañaga-Moreira, Jose M | Medo, Kristen | Bermúdez-Jiménez, Francisco José | Ben Yaou, Rabah | Leturq, France | Mezcua, Ainhoa Robles | Marini-Bettolo, Chiara | Cabrera, Eva | Reuter, Chloe | Limeres Freire, Javier | Rodríguez-Palomares, José F | Mestroni, Luisa | Taylor, Matthew R G | Parikh, Victoria N | Ashley, Euan A | Barriales-Villa, Roberto | Jiménez-Jáimez, Juan | Garcia-Pavia, Pablo CNIC | Charron, Philippe | Biagini, Elena | García Pinilla, José M | Bourke, John | Savvatis, Konstantinos | Wahbi, Karim | Elliott, Perry M
Fecha de publicación
2023-08-28
Cita
Eur Heart J. 2023 Aug 28:ehad561.
Idioma
Inglés
Tipo de documento
journal article
Resumen
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 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.
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