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- Title
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
- Authors
Faggioni, Michela; Kryshtal, Dmytro O; Knollmann, Björn C
- 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.
- Publication
Pediatric cardiology, 2012, Vol 33, Issue 6, p959
- ISSN
1432-1971
- Publication type
Journal Article
- DOI
10.1007/s00246-012-0256-1