Desmoplakin Cardiomyopathy: Gene Dose-Dependent Myocardial Remodeling, Arrhythmias, and Premature Death.

doi:10.1016/j.jacep.2025.10.031

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Article

Desmoplakin Cardiomyopathy: Gene Dose-Dependent Myocardial Remodeling, Arrhythmias, and Premature Death.

JACC. Clinical electrophysiology - 1 Apr 2026

Guazzo Anna, Perumal Vanaja Induja, Di Bona Anna, Bariani Riccardo, Disalvo Maria C, Albiero Mattia, Kuperwasser Nicolas, David Pierre, Celeghin Rudy, Di Mauro Vittoria, Scalco Arianna, López-Moreno María, Cason Marco, De Gaspari Monica, Della Barbera Mila, Rizzo Stefania, Ventura Laura, Corrado Domenico, Bauce Barbara, Zanotti Giuseppe, Thiene Gaetano, Pilichou Kalliopi, Minervini Giovanni, Perez Pomares José Maria, Pende Mario, Basso Cristina, Mongillo Marco, Zaglia Tania

Abstract excerpt

BACKGROUND: Pathogenic variants in DSP cause arrhythmogenic cardiomyopathies with variable inheritance pattern. Recessive mutations underlie syndromic forms such as Carvajal syndrome, whereas dominant variants cause DSP cardiomyopathy, a left-dominant arrhythmogenic cardiomyopathy characterized by early electrical instability, inflammation, and fibrosis. The mechanisms driving these phenotypes remain poorly...

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Identifiers

PMID: 41411472
DOI: 10.1016/j.jacep.2025.10.031

Genes

DSP
DSG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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