Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

doi:10.1093/europace/euu128

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Article

Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Dec 2014

López-Ayala Jose María, Gómez-Milanés Ivan, Sánchez Muñoz Juan José, Ruiz-Espejo Francisco, Ortíz Martín, González-Carrillo Josefa, López-Cuenca David, Oliva-Sandoval M J, Monserrat Lorenzo, Valdés Mariano, Gimeno Juan R

Abstract excerpt

AIMS: Risk stratification for sudden death in arrhythmogenic right ventricular cardiomyopathy (ARVC) is challenging in clinical practice. We lack recommendations for the risk stratification of exclusive left-sided phenotypes. The aim of this study was to investigate genotype-phenotype correlations in patients carrying a novel DSP c.1339C>T, and to review the literature on the clinical expression and the outcomes...

Topics

Adult
Arrhythmogenic Right Ventricular Dysplasia
Desmoplakins
Female
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Incidence

Male

Mutation

Polymorphism, Single Nucleotide

Risk Factors

Spain

Ventricular Dysfunction, Left

Source

Open in PubMed

Identifiers

PMID: 24938629
DOI: 10.1093/europace/euu128

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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