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dc.contributor.author | Cannie, Douglas E | |
dc.contributor.author | Syrris, Petros | |
dc.contributor.author | Protonotarios, Alexandros | |
dc.contributor.author | Bakalakos, Athanasios | |
dc.contributor.author | Pruny, Jean-François | |
dc.contributor.author | Ditaranto, Raffaello | |
dc.contributor.author | Martinez-Veira, Cristina | |
dc.contributor.author | Larrañaga-Moreira, Jose M | |
dc.contributor.author | Medo, Kristen | |
dc.contributor.author | Bermúdez-Jiménez, Francisco José | |
dc.contributor.author | Ben Yaou, Rabah | |
dc.contributor.author | Leturq, France | |
dc.contributor.author | Mezcua, Ainhoa Robles | |
dc.contributor.author | Marini-Bettolo, Chiara | |
dc.contributor.author | Cabrera, Eva | |
dc.contributor.author | Reuter, Chloe | |
dc.contributor.author | Limeres Freire, Javier | |
dc.contributor.author | Rodríguez-Palomares, José F | |
dc.contributor.author | Mestroni, Luisa | |
dc.contributor.author | Taylor, Matthew R G | |
dc.contributor.author | Parikh, Victoria N | |
dc.contributor.author | Ashley, Euan A | |
dc.contributor.author | Barriales-Villa, Roberto | |
dc.contributor.author | Jiménez-Jáimez, Juan | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.contributor.author | Charron, Philippe | |
dc.contributor.author | Biagini, Elena | |
dc.contributor.author | García Pinilla, José M | |
dc.contributor.author | Bourke, John | |
dc.contributor.author | Savvatis, Konstantinos | |
dc.contributor.author | Wahbi, Karim | |
dc.contributor.author | Elliott, Perry M | |
dc.date.accessioned | 2023-10-17T09:51:33Z | |
dc.date.available | 2023-10-17T09:51:33Z | |
dc.date.issued | 2023-08-28 | |
dc.identifier.citation | Eur Heart J. 2023 Aug 28:ehad561. | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/16575 | |
dc.description.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 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. | es_ES |
dc.description.sponsorship | The work reported in this publication was funded by: a British Heart Foundation Clinical Research Training Fellowship to D.E.C. (FS/CRTF/ 20/24022); a British Heart Foundation Clinical Research Training fellowship to A.P. (FS/18/82/34024); The Ministry of Health, Italy, project RC-2022-2773270 to E.B.; the National Institutes of Health (NIH) (R01HL69071, R01HL116906, R01HL147064, NIH/NCATS UL1 TR002535, and UL1 TR001082) to L.M.; and support from the Rose Foundation for K.M. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Oxford University Press | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-sa/4.0/ | * |
dc.title | Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Atribución-CompartirIgual 4.0 Internacional | * |
dc.identifier.pubmedID | 37639473 | es_ES |
dc.identifier.doi | 10.1093/eurheartj/ehad561 | es_ES |
dc.contributor.funder | British Heart Foundation | es_ES |
dc.contributor.funder | National Institutes of Health (Estados Unidos) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1522-9645 | es_ES |
dc.relation.publisherversion | 10.1093/eurheartj/ehad561 | es_ES |
dc.identifier.journal | European heart journal | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |