Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia

Uwais Mohamed, Carlo Napolitano, Silvia G. Priori

Research output: Contribution to journalArticlepeer-review

Abstract

Molecular and Electrophysiological Bases of CPVT. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by adrenergically mediated polymorphic ventricular tachyarrhythmias. Genetic investigations have identified two variants of the disease: an autosomal dominant form associated with mutations in the gene encoding the cardiac ryanodine receptor (RyR2) and a recessive form associated with homozygous mutations in the gene encoding the cardiac isoform of calsequestrin (CASQ2). Functional characterization of mutations identified in the RyR2 and CASQ2 genes has demonstrated that CPVT are caused by derangements of the control of intracellular calcium. Investigations in a knock-in mouse model have shown that CPVT arrhythmias are initiated by delayed afterdepolarizations and triggered activity. In the present article, we review clinical and molecular understanding of CPVT and discuss the most recent approaches to develop novel therapeutic strategies for the disease.

Original languageEnglish
Pages (from-to)791-797
Number of pages7
JournalJournal of Cardiovascular Electrophysiology
Volume18
Issue number7
DOIs
Publication statusPublished - Jul 2007

Keywords

  • Adrenergic activity
  • Arrhythmias
  • Genetics
  • Sudden cardiac death
  • Ventricular tachycardia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology

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