Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

doi:10.1016/j.hrthm.2014.07.020

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Article

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

Heart rhythm - 1 Nov 2014

Roux-Buisson Nathalie, Gandjbakhch Estelle, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Mansencal Nicolas, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Trapani Jonathan, Fouret Pierre, Frank Robert, Fressart Veronique, Fauré Julien, Lunardi Joel, Charron Philippe

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic disease predominantly caused by desmosomal gene mutations that account for only ~50% of cases. Ryanodine receptor 2 (RYR2) gene mutations usually cause catecholaminergic polymorphic ventricular tachycardia but have been associated with a peculiar phenotype named ARVC2. OBJECTIVE: We aimed to determine the prevalence and...

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PMID: 25041964
DOI: 10.1016/j.hrthm.2014.07.020

Genes

RYR2

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

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