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Article

A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.

Forensic science international - 1 Jan 2017

Bosch Cristina, Campuzano Oscar, Sarquella-Brugada Georgia, Cesar Sergi, Perez-Serra Alexandra, Coll Monica, Mademont Irene, Mates Jesus, Del Olmo Bernat, Iglesias Anna, Brugada Josep, Petersen Volker, Brugada Ramon

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia is a rare familial arrhythmogenic disease. It usually occurs in juvenile patients with a structurally normal heart and causes exercise-emotion triggered syncope and sudden cardiac death. The main gene associated with catecholaminergic polymorphic ventricular tachycardia is RyR2, encoding the cardiac ryanodine receptor protein which is involved in calcium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27988446
DOI: 10.1016/j.forsciint.2016.12.001

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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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