Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel

Carlo Napolitano, Charles Antzelevitch

Research output: Contribution to journalArticlepeer-review

Abstract

The L-type cardiac calcium channel (LTCC) plays a prominent role in the electric and mechanical function of the heart. Mutations in the LTCC have been associated with a number of inherited cardiac arrhythmia syndromes, including Timothy, Brugada, and early repolarization syndromes. Elucidation of the genetic defects associated with these syndromes has led to a better understanding of molecular and cellular mechanisms and the development of novel therapeutic approaches to dealing with the arrhythmic manifestations. This review provides an overview of the molecular structure and function of the LTCC, the genetic defects in these channels known to contribute to inherited disorders, and the underlying molecular and cellular mechanisms contributing to the development of life-threatening arrhythmias.

Original languageEnglish
Pages (from-to)607-618
Number of pages12
JournalCirculation Research
Volume108
Issue number5
DOIs
Publication statusPublished - Mar 4 2011

Keywords

  • Brugada syndrome
  • early repolarization syndrome
  • electrophysiology
  • Timothy syndrome
  • ventricular arrhythmias

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

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