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Pediatr Cardiol. 2012 Aug;33(6):959-67. doi: 10.1007/s00246-012-0256-1. Epub 2012 Mar 16.

Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.

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  • 1Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232-0575, USA.

Abstract

Cardiac calsequestrin (Casq2) is the major Ca2+ binding protein in the sarcoplasmic reticulum, which is the principle Ca2+ storage organelle of cardiac muscle. During the last decade, experimental studies have provided new concepts on the role of Casq2 in the regulation of cardiac muscle Ca2+ handling. Furthermore, mutations in the gene encoding for cardiac calsequestrin, CASQ2, cause a rare but severe form of catecholaminergic polymorphic ventricular tachycardia (CPVT). Here, we review the physiology of Casq2 in cardiac Ca2+ handling and discuss pathophysiological mechanisms that lead to CPVT caused by CASQ2 mutations. We also describe the clinical aspects of CPVT and provide an update of its contemporary clinical management.

PMID:
22421959
[PubMed - indexed for MEDLINE]
PMCID:
PMC3393815
Free PMC Article

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