{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T23:20:17Z","timestamp":1794266417495,"version":"4.9.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/01941"],"award-info":[{"award-number":["PI17\/01941"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["AC16\/0014"],"award-info":[{"award-number":["AC16\/0014"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Heart Fail"],"published-print":{"date-parts":[[2021,8]]},"abstract":"Abstract<\/jats:title>\n \n Aims<\/jats:title>\n \n Dilated cardiomyopathy (DCM) associated with dystrophin gene (\n DMD<\/jats:italic>\n ) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of\n DMD<\/jats:italic>\n associated DCM in\n DMD<\/jats:italic>\n mutation carriers without severe skeletal myopathy.\n <\/jats:p>\n <\/jats:sec>\n \n Methods and results<\/jats:title>\n \n At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223\n DMD<\/jats:italic>\n mutation carriers (83% male, 33\u2009\u00b1\u200915\u2009years). A total of 112 individuals (52%) had DCM at first evaluation [\n n<\/jats:italic>\n \u00a0=\u200985; left ventricular ejection fraction (LVEF) 34\u2009\u00b1\u200911.2%] or developed DCM (\n n<\/jats:italic>\n \u00a0=\u200927; LVEF 41.3\u00a0\u00b1\u20097.5%) after a median follow\u2010up of 96\u2009months (interquartile range 5\u2013311\u2009months). DCM penetrance was 45% in carriers older than 40\u2009years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end\u2010stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end\u2010diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow\u2010up.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n DMD<\/jats:italic>\n \u2010associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end\u2010stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ejhf.2250","type":"journal-article","created":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T02:25:57Z","timestamp":1622255157000},"page":"1276-1286","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Prevalence and clinical outcomes of dystrophin\u2010associated dilated cardiomyopathy without severe skeletal myopathy"],"prefix":"10.1093","volume":"23","author":[{"given":"Maria A.","family":"Restrepo\u2010Cordoba","sequence":"first","affiliation":[{"name":"Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology Hospital Universitario Puerta de Hierro Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red en Enfermedades Cardiovasculares (CIBERCV) Madrid Spain"},{"name":"European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN\u2010GUARDHEART) Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Paris\u2010Descartes Sorbonne Paris Cit\u00e9 University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca R.","family":"Florian","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Imaging, Department of Cardiology I University Hospital Muenster Muenster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Jim\u00e9nez\u2010J\u00e1imez","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Virgen de las Nieves Granada Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, University of Campania Luigi Vanvitelli Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Arad","sequence":"additional","affiliation":[{"name":"Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Climent\u2010Paya","sequence":"additional","affiliation":[{"name":"Cardiology Department, University General Hospital of Alicante, Alicante, Spain. 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