NDLI: A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review

Content Provider	Springer Nature : BioMed Central
Author	Santos-Ferreira, Cátia Baptista, Rui Teixeira, Tiago Gonçalves, Lino
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.
Related Links	https://bmccardiovascdisord.biomedcentral.com/counter/pdf/10.1186/s12872-022-02472-5.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
ISSN	14712261
DOI	10.1186/s12872-022-02472-5
Journal	BMC Cardiovascular Disorders
Issue Number	1
Volume Number	22
Language	English
Publisher	BioMed Central
Publisher Date	2022-02-12
Access Restriction	Open
Subject Keyword	Cardiology Cardiac Surgery Angiology Blood Transfusion Medicine Internal Medicine Medicine Public Health Arrhythmogenic cardiomyopathy Dilated cardiomyopathy Sudden cardiac death Desmoplakin mutation Cutaneous abnormalities Case report Medicine/Public Health
Content Type	Text
Resource Type	Case study
Subject	Cardiology and Cardiovascular Medicine
Journal Impact Factor	2/2023
5-Year Journal Impact Factor	2.3/2023

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