{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:09:24Z","timestamp":1790856564467,"version":"4.1.0"},"reference-count":30,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A\/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. Patients and methods: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. Results: At the end of 11 (5.0\u201316.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation\/flutter (AF\/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF\/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p &lt; 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +\/\u2212 10.6 vs. 25.1 +\/\u2212 9.1, p = 0.03). Conclusions: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD\/LMNA mutations; however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group.<\/jats:p>","DOI":"10.3390\/jcm10040732","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T18:45:00Z","timestamp":1613155500000},"page":"732","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4099-6247","authenticated-orcid":false,"given":"Micha\u0142","family":"Marchel","sequence":"first","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Madej-Pilarczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1381-302X","authenticated-orcid":false,"given":"Agata","family":"Tymi\u0144ska","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman","family":"Steckiewicz","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Ostrowska","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-5412","authenticated-orcid":false,"given":"Julia","family":"Wysi\u0144ska","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9227-0360","authenticated-orcid":false,"given":"Vincenzo","family":"Russo","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences, University of Campania \u201cLuigi Vanvitelli\u201d\u2014Monaldi Hospital, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-0301","authenticated-orcid":false,"given":"Marcin","family":"Grabowski","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"Opolski","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1136\/heartjnl-2017-312338","article-title":"Lamin and the heart","volume":"104","author":"Captur","year":"2017","journal-title":"Heart"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 2: Respiratory, cardiac, bone health, and orthopaedic management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1017\/cjn.2015.311","article-title":"A Systematic Review and Meta-analysis on the Epi-demiology of the Muscular Dystrophies","volume":"43","author":"Mah","year":"2016","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00109-004-0589-1","article-title":"Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A\/C mutations portend a high risk of sudden death?","volume":"83","author":"Bonne","year":"2005","journal-title":"J. Mol. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1016\/j.ehj.2003.09.020","article-title":"Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A\/C gene mutations","volume":"24","author":"Sanna","year":"2003","journal-title":"Eur. Heart J."},{"key":"ref_6","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":"ref_7","doi-asserted-by":"crossref","first-page":"900","DOI":"10.7326\/0003-4819-119-9-199311010-00006","article-title":"Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy","volume":"119","author":"Fishbein","year":"1993","journal-title":"Ann. Intern. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"331","DOI":"10.5603\/CJ.a2014.0037","article-title":"Lamin A\/C mutations in dilated cardiomyopathy","volume":"21","author":"Tesson","year":"2014","journal-title":"Cardiol. J."},{"key":"ref_9","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":"ref_10","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/jnnp.29.4.338","article-title":"Unusual type of benign x-linked muscular dystrophy","volume":"29","author":"Emery","year":"1966","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1186\/s13023-019-1245-8","article-title":"Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset","volume":"14","author":"Ditaranto","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"458","DOI":"10.7326\/M18-2768","article-title":"Cardiac and Neuromuscular Features of Patients WithLMNA-Related Cardiomyopathy","volume":"171","author":"Peretto","year":"2019","journal-title":"Ann. Intern. Med."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Priori, S.G., Blomstr\u00f6m-Lundqvist, C., Mazzanti, A., Blom, N., Borggrefe, M., Camm, J., Elliott, P.M., Fitzsimons, D., Hatala, R., and Hindricks, G. (2016). 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac Death. The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). G. Ital. Cardiol., 17.","DOI":"10.1093\/eurheartj\/ehv316"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"283","DOI":"10.3346\/jkms.2005.20.2.283","article-title":"Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B","volume":"20","author":"Hong","year":"2005","journal-title":"J. Korean Med. Sci."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1093\/eurheartj\/ehx596","article-title":"Lamin A\/C cardiomyopathy: Young onset, high penetrance, and frequent need for heart transplantation","volume":"39","author":"Hasselberg","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Steckiewicz, R., Stolarz, P., \u015awi\u0119to\u0144, E., Madej-Pilarczyk, A., Grabowski, M., Marchel, M., Pieniak, M., Filipiak, K.J., Hausmanowa-Petrusewicz, I., and Opolski, G. (2015). Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: A single-centre study with a 39-year follow-up. Kardiol. Polska, 576\u2013583.","DOI":"10.5603\/KP.a2015.0218"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/hrt.82.1.105","article-title":"Cardiac involvement in Emery Dreifuss muscular dystrophy: A case series","volume":"82","author":"Buckley","year":"1999","journal-title":"Heart"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"406","DOI":"10.5603\/KP.2013.0071","article-title":"Atrial mechanical and electrical dysfunction in patient with Emery-Dreifuss muscular dystrophy reason of change in electrotherapeutical approach: Frequent result of rare disease","volume":"71","author":"Steckiewicz","year":"2013","journal-title":"Kardiol. Pol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/clc.4960140509","article-title":"Progression of cardiac disease in Emery-Dreifuss muscular dystrophy","volume":"14","author":"Bialer","year":"1991","journal-title":"Clin. Cardiol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1161\/01.STR.0000064322.47667.49","article-title":"Clinical relevance of atrial fibrillation\/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study","volume":"34","author":"Boriani","year":"2003","journal-title":"Stroke"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"3352","DOI":"10.1161\/CIRCULATIONAHA.104.527184","article-title":"High Incidence of Sudden Cardiac Death With Conduction Disturbances and Atrial Cardiomyopathy Caused by a Nonsense Mutation in the STA Gene","volume":"111","author":"Sakata","year":"2005","journal-title":"Circulation"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"942","DOI":"10.5603\/KP.2015.0187","article-title":"Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy","volume":"73","author":"Marchel","year":"2015","journal-title":"Kardiol. Polska"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.jacc.2008.06.044","article-title":"Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies","volume":"52","author":"Pasotti","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1161\/CIRCULATIONAHA.118.039410","article-title":"Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies","volume":"140","author":"Wahbi","year":"2019","journal-title":"Circulation"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jacc.2011.08.078","article-title":"Risk factors for malignant ventricular arrhythmias in lamin a\/c mutation carriers a European cohort study","volume":"59","author":"Arbustini","year":"2012","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.nmd.2011.09.001","article-title":"Cardiac and muscle imaging findings in a family with X-linked Emery\u2013Dreifuss muscular dystrophy","volume":"22","author":"Carboni","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.nmd.2009.12.004","article-title":"Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery\u2013Dreifuss muscular dystrophy","volume":"20","author":"Nigro","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.pjnns.2017.09.006","article-title":"Low-symptomatic skeletal muscle disease in patients with a cardiac disease\u2014Diagnostic approach in skeletal muscle laminopathies","volume":"52","author":"Marchel","year":"2018","journal-title":"Neurol. Neurochir. Polska"},{"key":"ref_30","first-page":"627","article-title":"Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation","volume":"129","author":"Kalin","year":"2019","journal-title":"Pol. Arch. Intern. Med."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/4\/732\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:23:25Z","timestamp":1760160205000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/10\/4\/732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,12]]},"references-count":30,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["jcm10040732"],"URL":"https:\/\/doi.org\/10.3390\/jcm10040732","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,12]]}}}