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Article

Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.

Heart rhythm - 1 Aug 2026

Gurumoorthi Manasa, Dabbagh Ghaith Sharaf, Wolfe Rachel, Hesse Kerrick, Shah Ravi, Kurzlechner Leonie, Yadav Kanishk, Balint Brittany, Asatryan Babken, Sheikh Farah, Chahal C Anwar A, Landstrom Andrew P

Abstract excerpt

BACKGROUND: Desmoplakin (DSP) variants cause arrhythmogenic cardiomyopathy, a disorder characterized by myocardial fibrosis, arrhythmias, and sudden cardiac death. DSP-mediated arrhythmogenic cardiomyopathy often involves left ventricular dysfunction and myocardial inflammation, yet existing diagnostic criteria may underdetect disease, underscoring the need for population-based penetrance estimates. OBJECTIVE:...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41130550
DOI: 10.1016/j.hrthm.2025.10.043
PMCID: PMC12671982

Genes

DSP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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