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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.


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.

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