Molecular and genetic basis of sudden cardiac death

J Clin Invest. 2013 Jan;123(1):75-83. doi: 10.1172/JCI62928. Epub 2013 Jan 2.

Abstract

The abrupt cessation of effective cardiac function due to an aberrant heart rhythm can cause sudden and unexpected death at any age, a syndrome called sudden cardiac death (SCD). Annually, more than 300,000 cases of SCD occur in the United States alone, making this a major public health concern. Our current understanding of the mechanisms responsible for SCD has emerged from decades of basic science investigation into the normal electrophysiology of the heart, the molecular physiology of cardiac ion channels, fundamental cellular and tissue events associated with cardiac arrhythmias, and the molecular genetics of monogenic disorders of heart rhythm. This knowledge has helped shape the current diagnosis and treatment of inherited arrhythmia susceptibility syndromes associated with SCD and has provided a pathophysiological framework for understanding more complex conditions predisposing to this tragic event. This Review presents an overview of the molecular basis of SCD, with a focus on monogenic arrhythmia syndromes.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / epidemiology
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / metabolism*
  • Arrhythmias, Cardiac / physiopathology*
  • Death, Sudden, Cardiac*
  • Electrophysiological Phenomena / genetics*
  • Heart Rate / genetics
  • Humans
  • Ion Channels* / genetics
  • Ion Channels* / metabolism
  • United States / epidemiology

Substances

  • Ion Channels