{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:09:20Z","timestamp":1760234960313,"version":"build-2065373602"},"reference-count":13,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T00:00:00Z","timestamp":1626220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Emery\u2013Dreifuss muscular dystrophy (EDMD) is a rare genetic disease that affects the musculoskeletal system, including the heart, causing rhythm disorders and cardiomyopathy, sometimes requiring an implantable cardioverter-defibrillator (ICD) or heart transplantation due to severe heart damage. The case described herein concerns a 16-year-old girl, with grade II obesity, without other known pathological antecedents or cardiac pathology diagnosis given an annual history of cardiological investigations. She was admitted to the Infectious Diseases Department with SARS-CoV-2 virus infection. The anamnesis showed that the cardiological investigations performed in the past were completed due to the medical history antecedents of her sister, who had been diagnosed with dilated cardiomyopathy, having undergone the placement of an ICD and a heart transplant. Numerous investigations were performed during hospitalization, which revealed high levels of high-sensitive cardiac troponin I (hs-cTnI), creatine kinase (CK) and N-terminal pro b-type natriuretic peptide (NT-proBNP). Dynamic electrocardiographic evaluations showed ventricular extrasystoles, without clinical manifestations. The patient presented stage 2 arterial hypertension (AHT) during hospitalization. A cardiac ultrasound was also performed, which revealed suspected mild subacute viral myocarditis with cardiomyopathy, and antihypertensive medication was initiated. A heart MRI was performed, and the patient was diagnosed with dilated cardiomyopathy, refuting the suspicion of viral subacute myocarditis. After discharge, as the patient developed gait disorders with an impossible heel strike upon walking and limitation of the extension of the arms and ankles, was hospitalized in the Neurology Department. Electrocardiograms (ECGs) were dynamically performed, and because the rhythm disorders persisted, the patient was transferred to the Cardiology Department. On Holter monitoring, non-sustained ventricular tachycardia (NSVT) was detected, so antiarrhythmic treatment was initiated, and placement of an ICD was subsequently decided and was diagnosed with EDMD. Genetic tests were also performed, and a mutation of the lamin A\/C gene was detected (LMNA gene exon 2, variant c448A &gt; C (p.Thr150pro), heterozygous form, AD).<\/jats:p>","DOI":"10.3390\/genes12071070","type":"journal-article","created":{"date-parts":[[2021,7,14]],"date-time":"2021-07-14T10:13:42Z","timestamp":1626257622000},"page":"1070","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["SARS-CoV-2 Infection and Emery-Dreifuss Syndrome in a Young Patient with a Family History of Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0395-6713","authenticated-orcid":false,"given":"Irina Magdalena","family":"Dumitru","sequence":"first","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"},{"name":"Faculty of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"},{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1230-6819","authenticated-orcid":false,"given":"Nicoleta Dorina","family":"Vlad","sequence":"additional","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"},{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sorin","family":"Rugina","sequence":"additional","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"},{"name":"Faculty of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"},{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"},{"name":"Romanian Academy of Scientists, Spl. Independentei, 54, Bucharest-Sector 5, Bucharest 50085, 030167 Bucharest, Romania"},{"name":"Romanian Academy of Medical Sciences, Ion C. Br\u0103tianu Street, nr. 1, 030167 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoleta","family":"Onofrei","sequence":"additional","affiliation":[{"name":"Medgidia Municipal Hospital, Strada Ion Creang\u0103 18, 905600 Medgidia, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabina","family":"Gherca","sequence":"additional","affiliation":[{"name":"County Emergency Clinical Hospital \u201cSf. Apostol Andrei\u201d, Tomis Street, nr. 145, 900591 Constan\u021ba, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marian","family":"Raduna","sequence":"additional","affiliation":[{"name":"Military Emergency Hospital \u201cDr. Alexandru Gafencu\u201d, Mamaia Street, nr. 96, 900527 Constan\u021ba, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurel","family":"Trana","sequence":"additional","affiliation":[{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"},{"name":"Military Emergency Hospital \u201cDr. Alexandru Gafencu\u201d, Mamaia Street, nr. 96, 900527 Constan\u021ba, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirela","family":"Dumitrascu","sequence":"additional","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Popovici","sequence":"additional","affiliation":[{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9320-9820","authenticated-orcid":false,"given":"Mircea","family":"Bajdechi","sequence":"additional","affiliation":[{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Zekra","sequence":"additional","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"},{"name":"Faculty of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"},{"name":"Doctoral School of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana Carmen","family":"Cernat","sequence":"additional","affiliation":[{"name":"Clinical Infectious Diseases Hospital, Street 100 Ferdinand, 900709 Constanta, Romania"},{"name":"Faculty of Medicine, Ovidius University of Constanta, Universit\u0103\u021bii Street, nr. 1, B Building, 900470 Constanta, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,14]]},"reference":[{"key":"ref_1","first-page":"2071738","article-title":"A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery\u2013Dreifuss Muscular Dystrophy","volume":"2020","author":"Dai","year":"2020","journal-title":"Case Rep. Genet."},{"key":"ref_2","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_3","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ajhg.2009.07.015","article-title":"Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy","volume":"85","author":"Gueneau","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1080\/19491034.2018.1462635","article-title":"Clinical aspects of Emery-Dreifuss muscular dystrophy","volume":"9","year":"2018","journal-title":"Nucleus"},{"key":"ref_5","unstructured":"(2021, June 10). Available online: https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LMNA."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1136\/jmg.2004.026112","article-title":"Lamin A N-terminal phosphorylation is associated with myoblast activation: Impairment in Emery\u2014Dreifuss muscular dystrophy","volume":"42","author":"Cenni","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_7","first-page":"216","article-title":"Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry","volume":"74","author":"Ochoa","year":"2021","journal-title":"Rev. Esp. Cardiol. (Engl. Ed.)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2468","DOI":"10.1016\/j.jacc.2018.09.026","article-title":"Formins Emerge as a Cause of Hypertrophic Cardiomyopathy: New Genes for Thick Hearts","volume":"72","author":"Pinto","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_9","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. (2008). LMNA-Related Dilated Cardiomyopathy. GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_10","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. (2004). Emery-Dreifuss Muscular Dystrophy. GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_11","unstructured":"(2021, June 15). Available online: https:\/\/musculardystrophynews.com\/information-about-covid-19-for-muscular-dystrophy-patients."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Gujar, H., Weisenberger, D.J., and Liang, G. (2019). The Roles of Human DNA Methyltransferases and Their Isoforms in Shaping the Epigenome. Genes, 10.","DOI":"10.3390\/genes10020172"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Motorin, Y., and Helm, M. (2019). Methods for RNA Modification Mapping Using Deep Sequencing: Established and New Emerging Technologies. Genes, 10.","DOI":"10.3390\/genes10010035"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1070\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:30:17Z","timestamp":1760164217000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/7\/1070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,14]]},"references-count":13,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7]]}},"alternative-id":["genes12071070"],"URL":"https:\/\/doi.org\/10.3390\/genes12071070","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2021,7,14]]}}}