Please use this identifier to cite or link to this item: 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

Show full item record

Google ScholarTM

Check

Altmetric

Altmetric


This item is licensed under a Creative Commons License Creative Commons