{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:50:32Z","timestamp":1753876232486,"version":"3.41.2"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T00:00:00Z","timestamp":1633737600000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Muscular dystrophies (MDs) are characterized by early-onset muscular atrophy and weakness, with frequent cardiac involvement. Myocardial dysfunction and conduction system involvement are often rapidly progressive despite medical and device therapy, and may even precede muscular symptoms, posing a challenge to diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We report a case of a young male admitted to a cardiac intensive care unit due to \u2018de novo\u2019 acute heart failure (HF) and atrial flutter with a slow ventricular response. Careful evaluation of past medical history revealed the presence of neuromuscular symptoms since childhood, disregarded throughout adult age. Diagnostic workup allowed to establish a diagnosis of non-dilated hypokinetic cardiomyopathy secondary to Emery-Dreifuss MD, due to lamin A\/C (LMNA) gene mutation. Our patient was treated with neurohormonal modulation therapy and a cardiac resynchronization therapy defibrillator (CRT-D) was implanted, but due to worsening advanced HF, cardiac transplantation was needed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Association of skeletal muscle and cardiac symptoms should always raise the suspicion for an underlying MD, since the consequences of a missed diagnosis are often dramatic. A timely diagnosis is crucial to prevent sudden death due to arrhythmias in these patients and to delay the progressive course of cardiomyopathy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytab413","type":"journal-article","created":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T12:08:19Z","timestamp":1633781299000},"source":"Crossref","is-referenced-by-count":1,"title":["Acute heart failure and bradyarrhythmia in a young male\u2014what hides beneath the surface?: a case report"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2827-2131","authenticated-orcid":false,"given":"Jo\u00e3o","family":"Santos","sequence":"first","affiliation":[{"name":"Cardiology Department, Centro Hospitalar Tondela-Viseu, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5029-1972","authenticated-orcid":false,"given":"In\u00eas","family":"Almeida","sequence":"additional","affiliation":[{"name":"Cardiology Department, Centro Hospitalar Tondela-Viseu, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8979-7233","authenticated-orcid":false,"given":"In\u00eas","family":"Pires","sequence":"additional","affiliation":[{"name":"Cardiology Department, Centro Hospitalar Tondela-Viseu, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4725-7623","authenticated-orcid":false,"given":"Filipe","family":"Blanco","sequence":"additional","affiliation":[{"name":"Neurology Department, Centro Hospitalar Tondela-Viseu, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,10,9]]},"reference":[{"key":"2021103110201867300_ytab413-B1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1536\/ihj.17-604","article-title":"Cardiac involvement in Emery-Dreifuss muscular dystrophy and related management strategies","volume":"60","author":"Wang","year":"2019","journal-title":"Int Heart J"},{"key":"2021103110201867300_ytab413-B2","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1080\/19491034.2018.1462635","article-title":"Clinical aspects of Emery-Dreifuss muscular dystrophy","volume":"9","author":"Madej-Pilarczyk","year":"2018","journal-title":"Nucleus"},{"key":"2021103110201867300_ytab413-B3","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mus.26782","article-title":"Emery-Dreifuss muscular dystrophy","volume":"61","author":"Heller","year":"2020","journal-title":"Muscle Nerve"},{"key":"2021103110201867300_ytab413-B4","doi-asserted-by":"crossref","first-page":"e200","DOI":"10.1161\/CIR.0000000000000526","article-title":"Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association","volume":"136","author":"Feingold","year":"2017","journal-title":"Circulation"},{"key":"2021103110201867300_ytab413-B5","first-page":"1","volume-title":"GeneReviews\u00ae [Internet]","author":"Bonne","year":"2004"},{"key":"2021103110201867300_ytab413-B6","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1007\/s11910-007-0025-3","article-title":"Emery-Dreifuss muscular dystrophy","volume":"7","author":"Muchir","year":"2007","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2021103110201867300_ytab413-B7","doi-asserted-by":"crossref","first-page":"8812044","DOI":"10.1155\/2021\/8812044","article-title":"Echocardiographic features of cardiomyopathy in Emery-Dreifuss muscular dystrophy","volume":"2021","author":"Marchel","year":"2021","journal-title":"Cardiol Res Pract"},{"key":"2021103110201867300_ytab413-B8","doi-asserted-by":"crossref","first-page":"E1414","DOI":"10.1503\/cmaj.180410","article-title":"Cardiac manifestations in Emery-Dreifuss muscular dystrophy","volume":"190","author":"Faiella","year":"2018","journal-title":"CMAJ"},{"key":"2021103110201867300_ytab413-B9","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.2169\/internalmedicine.4113-19","article-title":"Refractory right ventricular failure in a patient with Emery-Dreifuss muscular dystrophy","volume":"59","author":"Chiba","year":"2020","journal-title":"Intern Med"},{"key":"2021103110201867300_ytab413-B10","doi-asserted-by":"crossref","first-page":"e005447","DOI":"10.1161\/CIRCHEARTFAILURE.118.005447","article-title":"Heart transplantation in muscular dystrophy patients: is it a viable option?","volume":"13","author":"Wells","year":"2020","journal-title":"Circ Heart Fail"},{"key":"2021103110201867300_ytab413-B11","doi-asserted-by":"crossref","first-page":"27","DOI":"10.2147\/TACG.S75028","article-title":"Emery-Dreifuss muscular dystrophy: a test case for precision medicine","volume":"9","author":"Pillers","year":"2016","journal-title":"Appl Clin Genet"},{"key":"2021103110201867300_ytab413-B12","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","volume":"359","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"2021103110201867300_ytab413-B13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5114\/fn.2016.58910","article-title":"Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy","volume":"54","author":"Madej-Pilarczyk","year":"2016","journal-title":"Folia Neuropathol"},{"key":"2021103110201867300_ytab413-B14","doi-asserted-by":"crossref","first-page":"7468","DOI":"10.4081\/ni.2018.7468","article-title":"Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy","volume":"10","author":"Fayssoil","year":"2018","journal-title":"Neurol Int"},{"key":"2021103110201867300_ytab413-B15","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1080\/10976640600723862","article-title":"Primary myocardial dysfunction in autosomal dominant EDMD. 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