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Article

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

Heart rhythm - 1 Jul 2006

Tester David J, Arya Puneeta, Will Melissa, Haglund Carla M, Farley Amanda L, Makielski Jonathan C, Ackerman Michael J

Abstract excerpt

BACKGROUND: Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively). OBJECTIVES: The purpose of this study was to evaluate the extent of genotypic and phenotypic heterogeneity among referrals for CPVT genetic testing. METHODS: Using denaturing high-performance...

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Share to Catecholamines
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to DNA Mutational Analysis

Share to Genetic Testing

Share to Ryanodine Receptor Calcium Release Channel

Share to Tachycardia, Ventricular

Source

Identifiers

PMID: 16818210
DOI: 10.1016/j.hrthm.2006.03.025

Genes

CASQ2
ANK2
KCNH2
KCNJ2
KCNQ1

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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