Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis

Silvia G. Priori, S. R Wayne Chen

Research output: Contribution to journalArticle

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca regulation could profoundly disrupt the electrophysiological properties of the heart. In this article, we discuss the molecular basis of the disease and the pathophysiological mechanisms that are impacting clinical diagnosis and management of affected individuals. As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology.

Original languageEnglish
Pages (from-to)871-883
Number of pages13
JournalCirculation Research
Volume108
Issue number7
DOIs
Publication statusPublished - Apr 1 2011

Keywords

  • arrhythmias
  • calcium regulation
  • genetics
  • ryanodine receptor
  • triggered activity

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

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