Sodium channel mutations and arrhythmias

Nat Rev Cardiol. 2009 May;6(5):337-48. doi: 10.1038/nrcardio.2009.44.

Abstract

Since the identification of the first SCN5A mutation associated with long QT syndrome in 1995, several mutations in this gene for the alpha subunit of the cardiac sodium channel have been identified in a heterogeneous subset of cardiac rhythm syndromes, including Brugada syndrome, progressive cardiac conduction defect, sick sinus node syndrome, atrial fibrillation and dilated cardiomyopathy. Robust clinical evidence has been accompanied by bench studies performed in different models spanning from in vitro expression systems to transgenic mice. Together, these studies have helped establish genotype-phenotype correlations and have shaped our understanding of the role of the cardiac sodium channel in health and in disease. Remarkably, these advances in understanding have impacted on clinical management by allowing us to start developing gene-specific risk stratification schemes and mutation-specific management strategies. In this Review, we summarize the current understanding of the molecular mechanism of SCN5A-associated inherited arrhythmias, focusing on the most recent development of mutation-specific management in SCN5A-associated long QT syndrome type 3. We also briefly discuss arrhythmia-causing mutations in the genes encoding the beta subunit of the cardiac sodium channel and in those encoding proteins in the associated macromolecular complex.

Publication types

  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / metabolism
  • Arrhythmias, Cardiac / physiopathology
  • Arrhythmias, Cardiac / therapy
  • Disease Models, Animal
  • Genetic Predisposition to Disease
  • Humans
  • Mutation*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Phenotype
  • Protein Conformation
  • Protein Subunits
  • Risk Assessment
  • Risk Factors
  • Sodium Channels / chemistry
  • Sodium Channels / genetics*
  • Sodium Channels / metabolism
  • Structure-Activity Relationship

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • Protein Subunits
  • SCN5A protein, human
  • Scn5a protein, mouse
  • Sodium Channels