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Desmoplakin (<jats:italic>DSP<\/jats:italic>) mutations account for 3\u201320% of AC cases. However, the number of patients with <jats:italic>DSP<\/jats:italic> mutations is extremely small in all published reports and genotype\u2013phenotype correlations are scant and mostly non-gene-specific.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 45-year-old man was admitted after an out-of-hospital cardiac arrest, with documented ventricular fibrillation. He had no previous history of heart disease or family history of SCD or cardiomyopathy. The cardiac magnetic resonance showed a mildly dilated left ventricle with an ejection fraction of 30% and a non-dilated right ventricle with mildly depressed systolic function, and extensive subepicardial late gadolinium enhancement. Genetic screening identified a heterozygote nonsense mutation in <jats:italic>DSP<\/jats:italic> (NM_004415.2: c.478\u00a0C &gt; T; p.Arg160Ter). Cascade genetic screening of the relatives revealed a high prevalence of the genotype and cutaneous phenotype, but a very low penetrance of the cardiac phenotype.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We report a case of SCD and an autosomal dominant mutation in <jats:italic>DSP<\/jats:italic> that causes arrhythmogenic dilated cardiomyopathy\/AC. Like the recessive mutation in <jats:italic>DSP<\/jats:italic> known to cause Carvajal syndrome, Arg160Ter may be associated with cutaneous abnormalities.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12872-022-02472-5","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T10:02:29Z","timestamp":1644660149000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review"],"prefix":"10.1186","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8312-5199","authenticated-orcid":false,"given":"C\u00e1tia","family":"Santos-Ferreira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Baptista","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiago","family":"Teixeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lino","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,2,12]]},"reference":[{"issue":"8","key":"2472_CR1","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1093\/europace\/eur245","volume":"13","author":"MJ Ackerman","year":"2011","unstructured":"Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al. 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A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"41"}}