October 18, 2002Circulation ResearchOpen Access

Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

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Population

Three families with Catecholaminergic polymorphic ventricular tachycardia, including 3 probands and 16…

Design

Case_series

Authors

APAlex V. PostmaAmsterdam University Medical Centers IDIsabelle DenjoyElectrophysiology THTheo M. HoorntjeInserm

Discussion

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Implication

May prompt CASQ2 screening in early-onset CPVT; leaves open heterozygous penetrance and requires validation.

Structured PICO

Population

Three families with Catecholaminergic polymorphic ventricular tachycardia (CPVT), including 3 probands (2 homozygous, 1 heterozygous) and 16 heterozygous carriers.

Outcome

Identification of CASQ2 mutations and clinical phenotype

Nonsense mutations in the CASQ2 gene cause a severe form of CPVT, with homozygous carriers experiencing early-onset syncopes.

Cite This Study

Postma et al. (2002) studied this question.

synapsesocial.com/papers/69f14acf2811130d0cde1f10 https://doi.org/10.1161/01.res.0000038886.18992.6b

Topics

Ventricular arrhythmias

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Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider