Cardiac genetic investigation of young sudden unexplained death and resuscitated out of hospital cardiac arrest

Heart Lung Circ. 2011 Dec;20(12):746-50. doi: 10.1016/j.hlc.2011.07.015. Epub 2011 Aug 31.

Abstract

Nearly 30% of young sudden deaths have negative autopsies and these sudden unexplained deaths (SUDs) are presumed to be due to heritable cardiac arrhythmias attributed to cardiac ion channel disorders. Comprehensive cardiac and genetic testing of families of SUD is helpful in the detection of inherited cardiac genetic conditions. It frequently provides a clue to the cause of death in SUD victims and allows early diagnosis and opportunities to prevent SUD in other family members. Out of Hospital Cardiac Arrest (OHCA) victims and their families also require similar assessment, although the role of genetic testing in this group should be reserved to patients where a clinical diagnosis is established. A team approach with multidisciplinary specialised clinics and increased access to genetic analysis is very helpful in achieving these goals.

MeSH terms

  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / mortality
  • Arrhythmias, Cardiac / pathology
  • Death, Sudden, Cardiac*
  • Family
  • Female
  • Genetic Testing / methods
  • Humans
  • Ion Channels / genetics
  • Male
  • Out-of-Hospital Cardiac Arrest / genetics*
  • Out-of-Hospital Cardiac Arrest / mortality
  • Out-of-Hospital Cardiac Arrest / pathology

Substances

  • Ion Channels