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Article

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

BMC cardiovascular disorders - 12 Feb 2022

Santos-Ferreira Cátia, Baptista Rui, Teixeira Tiago, Gonçalves Lino

Abstract excerpt

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....

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Source

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Identifiers

PMID: 35151254
DOI: 10.1186/s12872-022-02472-5
PMCID: PMC8840678

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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