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Article

The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.

Pacing and clinical electrophysiology : PACE - 1 May 2013

Al-Hassnan Zuhair N, Tulbah Sahar, Al-Manea Waleed, Al-Fayyadh Majid

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) manifests with episodic syncope or sudden death in young patients following physical activity or emotional stress. The autosomal recessive form of CPVT is caused by mutations in the CASQ2 gene. In a consanguineous family, a novel homozy...

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Source

Identifiers

PMID: 22650415
DOI: 10.1111/j.1540-8159.2012.03434.x

Genes

CASQ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22650415-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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