{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T12:34:24Z","timestamp":1791462864454,"version":"4.3.4"},"reference-count":54,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T00:00:00Z","timestamp":1739664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Duchenne Muscular Dystrophy (DMD) is a severe X-linked recessive disorder characterized by progressive muscle degeneration due to dystrophin deficiency. Cardiac involvement, particularly dilated cardiomyopathy, significantly impacts morbidity and mortality, typically manifesting after age 10. This case report presents a rare instance of early-onset cardiac involvement in a 3-year-old male with a confirmed deletion in exon 55 of the dystrophin gene. The patient developed dilated cardiomyopathy at 3 years and 8 months, with progressive left ventricular dysfunction despite early treatment with corticosteroids, ACE inhibitors, and beta-blockers. Genetic mechanisms and genotype\u2013phenotype correlations related to cardiac involvement were reviewed, highlighting emerging therapies such as exon skipping, vamorolone, ifetroban, and rimeporide. Studies indicate that variants in exons 12, 14\u201317, 31\u201342, 45, and 48\u201349 are associated with more severe cardiac impairment. This case emphasizes the need for early, ongoing cardiac assessment and personalized treatment to address disease heterogeneity. While current DMD care standards improve survival, optimizing management through early intervention and novel therapies remains essential. Further research is needed to better understand genotype\u2013phenotype correlations and improve cardiac outcomes for patients with DMD.<\/jats:p>","DOI":"10.3390\/ijms26041685","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T03:41:47Z","timestamp":1739763707000},"page":"1685","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5361-5549","authenticated-orcid":false,"given":"Maria","family":"Lupu","sequence":"first","affiliation":[{"name":"Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iustina Mihaela","family":"Pintilie","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Dr. Victor Gomoiu Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3038-6939","authenticated-orcid":false,"given":"Raluca Ioana","family":"Teleanu","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Paediatric Neurology, Dr. Victor Gomoiu Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgiana Gabriela","family":"Marin","sequence":"additional","affiliation":[{"name":"Clinical Cardiology Department of Oncological Institute, Prof. Dr. Alexandru Trestioreanu, 022328 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana Aurelia","family":"Vlad\u00e2cenco","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"},{"name":"Department of Paediatric Neurology, Dr. Victor Gomoiu Children\u2019s Hospital, 022102 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3901-615X","authenticated-orcid":false,"given":"Emilia Maria","family":"Severin","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-020-01430-8","article-title":"Global epidemiology of Duchenne muscular dystrophy: An updated systematic review and meta-analysis","volume":"15","author":"Crisafulli","year":"2020","journal-title":"Orphanet J. 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