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https://hdl.handle.net/10316/103200
Title: | A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review | Authors: | Ferreira, Cátia Santos Baptista, Rui Teixeira, Tiago Gonçalves, Lino |
Keywords: | Arrhythmogenic cardiomyopathy; Dilated cardiomyopathy; Sudden cardiac death; Desmoplakin mutation; Cutaneous abnormalities; Case report | Issue Date: | 2022 | Project: | POCI-01-0145-FEDER-032414 | Serial title, monograph or event: | BMC Cardiovascular Disorders | Volume: | 22 | Issue: | 1 | Abstract: | Background: Arrhythmogenic cardiomyopathy (AC) is a rare, heritable myocardial disorder that is a leading cause of ventricular arrhythmia and sudden cardiac death (SCD) in young people. Desmoplakin (DSP) mutations account for 3–20% of AC cases. However, the number of patients with DSP mutations is extremely small in all published reports and genotype–phenotype correlations are scant and mostly non-gene-specific. Case presentation: 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 DSP (NM_004415.2: c.478 C > 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. Conclusions: We report a case of SCD and an autosomal dominant mutation in DSP that causes arrhythmogenic dilated cardiomyopathy/AC. Like the recessive mutation in DSP known to cause Carvajal syndrome, Arg160Ter may be associated with cutaneous abnormalities. | URI: | https://hdl.handle.net/10316/103200 | ISSN: | 1471-2261 | DOI: | 10.1186/s12872-022-02472-5 | Rights: | openAccess |
Appears in Collections: | I&D ICBR - Artigos em Revistas Internacionais |
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