{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T15:32:57Z","timestamp":1789831977328,"version":"4.0.1"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"48","license":[{"start":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:00:00Z","timestamp":1693180800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/CRTF\/20\/24022"],"award-info":[{"award-number":["FS\/CRTF\/20\/24022"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL69071"],"award-info":[{"award-number":["R01HL69071"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL116906"],"award-info":[{"award-number":["R01HL116906"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL147064"],"award-info":[{"award-number":["R01HL147064"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH\/NCATS UL1 TR002535"],"award-info":[{"award-number":["NIH\/NCATS UL1 TR002535"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1 TR001082"],"award-info":[{"award-number":["UL1 TR001082"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001825","name":"Rose Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001825","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background and Aims<\/jats:title>\n                  <jats:p>Emery\u2013Dreifuss 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>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).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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\u2013109.5) 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\u201360.4) 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).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/eurheartj\/ehad561","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T17:40:53Z","timestamp":1693244453000},"page":"5064-5073","source":"Crossref","is-referenced-by-count":20,"title":["Emery\u2013Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure"],"prefix":"10.1093","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6298-922X","authenticated-orcid":false,"given":"Douglas E","family":"Cannie","sequence":"first","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2363-8758","authenticated-orcid":false,"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasios","family":"Bakalakos","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Pruny","sequence":"additional","affiliation":[{"name":"APHP, Sorbonne Universit\u00e9, Centre de R\u00e9f\u00e9rence pour les Maladies Cardiaques H\u00e9r\u00e9ditaires ou rares, ICAN Institute, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaello","family":"Ditaranto","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Martinez-Veira","sequence":"additional","affiliation":[{"name":"Unidad de Cardiopat\u00edas Familiares, Complexo Hospitalario Universitario de A Coru\u00f1a, Instituto de Investigaci\u00f3n Biom\u00e9dica de A Coru\u00f1a (INIBIC\/CIBERCV), Servizo Galego de Sa\u00fade (SERGAS), Universidade da Coru\u00f1a , A Coru\u00f1a , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M","family":"Larra\u00f1aga-Moreira","sequence":"additional","affiliation":[{"name":"Unidad de Cardiopat\u00edas Familiares, Complexo Hospitalario Universitario de A Coru\u00f1a, Instituto de Investigaci\u00f3n Biom\u00e9dica de A Coru\u00f1a (INIBIC\/CIBERCV), Servizo Galego de Sa\u00fade (SERGAS), Universidade da Coru\u00f1a , A Coru\u00f1a , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Medo","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus , Aurora, CO , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Jos\u00e9","family":"Berm\u00fadez-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Virgen de las Nieves, Instituto de Investigaci\u00f3n Biosanitaria IBS Granada , Granada , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabah","family":"Ben Yaou","sequence":"additional","affiliation":[{"name":"APHP-Sorbonne Universite, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires, Inserm, Centre de Recherche en Myologie, Institut de Myologie, Hopital Pitie-Salpetriere, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"APHP, Cochin Hospital, Department of Genomic Medicine and Systemic Diseases, University of Paris , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainhoa Robles","family":"Mezcua","sequence":"additional","affiliation":[{"name":"Heart Failure and Familial Cardiomyopathies Unit, Department of Cardiology, IBIMA , M\u00e1laga. \u00a0 Spain"},{"name":"Ciber-Cardiovascular, Instituto de Salud Carlos III , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Newcastle upon Tyne Hospitals NHS Trust , Newcastle upon Tyne , UK"},{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Cabrera","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"},{"name":"Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, CIBERCV , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Reuter","sequence":"additional","affiliation":[{"name":"Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine , 291 Campus Drive, Stanford, CA 94305 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Limeres Freire","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"},{"name":"Ciber-Cardiovascular, Instituto de Salud Carlos III , Madrid , Spain"},{"name":"Inherited Cardiovascular Diseases Unit, Department of Cardiology, Hospital Universitari Vall d\u00b4Hebron, Vall d\u2019Hebron Institut de Recerca (VHIR), Universitat Aut\u00f2noma de Barcelona , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 F","family":"Rodr\u00edguez-Palomares","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"},{"name":"Ciber-Cardiovascular, Instituto de Salud Carlos III , Madrid , Spain"},{"name":"Inherited Cardiovascular Diseases Unit, Department of Cardiology, Hospital Universitari Vall d\u00b4Hebron, Vall d\u2019Hebron Institut de Recerca (VHIR), Universitat Aut\u00f2noma de Barcelona , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Mestroni","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus , Aurora, CO , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R G","family":"Taylor","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus , Aurora, CO , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria N","family":"Parikh","sequence":"additional","affiliation":[{"name":"Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine , 291 Campus Drive, Stanford, CA 94305 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Euan A","family":"Ashley","sequence":"additional","affiliation":[{"name":"Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine , 291 Campus Drive, Stanford, CA 94305 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6721-3487","authenticated-orcid":false,"given":"Roberto","family":"Barriales-Villa","sequence":"additional","affiliation":[{"name":"Unidad de Cardiopat\u00edas Familiares, Complexo Hospitalario Universitario de A Coru\u00f1a, Instituto de Investigaci\u00f3n Biom\u00e9dica de A Coru\u00f1a (INIBIC\/CIBERCV), Servizo Galego de Sa\u00fade (SERGAS), Universidade da Coru\u00f1a , A Coru\u00f1a , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5541-898X","authenticated-orcid":false,"given":"Juan","family":"Jim\u00e9nez-J\u00e1imez","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Virgen de las Nieves, Instituto de Investigaci\u00f3n Biosanitaria IBS Granada , Granada , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5470-2257","authenticated-orcid":false,"given":"Pablo","family":"Garcia-Pavia","sequence":"additional","affiliation":[{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"},{"name":"Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, IDIPHISA, CIBERCV , Madrid , Spain"},{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1782-1118","authenticated-orcid":false,"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[{"name":"APHP, Sorbonne Universit\u00e9, Centre de R\u00e9f\u00e9rence pour les Maladies Cardiaques H\u00e9r\u00e9ditaires ou rares, ICAN Institute, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re , Paris , France"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-0440","authenticated-orcid":false,"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN-GUARDHEART)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M","family":"Garc\u00eda Pinilla","sequence":"additional","affiliation":[{"name":"Heart Failure and Familial Cardiomyopathies Unit, Department of Cardiology, IBIMA , M\u00e1laga. \u00a0 Spain"},{"name":"Ciber-Cardiovascular, Instituto de Salud Carlos III , Madrid , Spain"},{"name":"Departamento de Medicina y Dermatolog\u00eda, Universidad de Malaga , Malaga , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Bourke","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Newcastle upon Tyne Hospitals NHS Trust , Newcastle upon Tyne , UK"},{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Savvatis","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"},{"name":"William Harvey Institute, Queen Mary University London , London, United Kingdom"},{"name":"National Institute for Health Research, University College London Hospitals Biomedical Research Centre , London , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7682-7387","authenticated-orcid":false,"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"AP-HP, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France"},{"name":"AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France"},{"name":"Universit\u00e9 de Paris, Paris, France; Paris Cardiovascular Research Center (PARCC), INSERM Unit 970, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-3984","authenticated-orcid":false,"given":"Perry M","family":"Elliott","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London , London , UK"},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"key":"2023122108064413700_ehad561-B1","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1136\/jmg.26.10.637","article-title":"Emery-Dreifuss syndrome","volume":"26","author":"Emery","year":"1989","journal-title":"J Med 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