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Article

A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.

Pacing and clinical electrophysiology : PACE - 1 Jul 2008

de la Fuente Sam, Van Langen Irene M, Postma Alex V, Bikker Henni, Meijer Albert

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon heritable disease presenting with syncope or sudden cardiac death. Two genes involved in calcium homeostasis, the ryanodine receptor gene and the calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe a young man presenting with exercise-induced syncope, clinically diagnosed as CPVT. Genetic analysis revealed two...

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Share to Calsequestrin
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Share to Polymorphism, Single Nucleotide

Share to Ryanodine Receptor Calcium Release Channel

Share to Tachycardia, Ventricular

Source

Identifiers

PMID: 18684293
DOI: 10.1111/j.1540-8159.2008.01111.x

Genes

CASQ2

Variants

Provenance

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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