[Genetics of sudden unexplained death]

Med Clin (Barc). 2014 Mar 20;142(6):265-9. doi: 10.1016/j.medcli.2013.06.015. Epub 2013 Sep 7.
[Article in Spanish]

Abstract

Sudden unexplained death is defined by death without a conclusive diagnosis after autopsy and it is responsible for a large percentage of sudden deaths. The progressive interaction between genetics and forensics in post-mortem studies has identified inheritable alterations responsible for pathologies associated with arrhythmic sudden death. The genetic diagnosis of the deceased enables the undertaking of preventive measures in family members, many of them asymptomatic but at risk. The implications of this multidisciplinary translational medical approach are complex, requiring the dedication of a specialized team.

Keywords: Canalopatías; Channelopathies; Genetics; Genética; Muerte súbita inexplicada; Sudden unexplained death.

Publication types

  • Review

MeSH terms

  • Autopsy
  • Channelopathies / genetics
  • Death, Sudden / etiology*
  • Death, Sudden, Cardiac / etiology
  • Family Health
  • Genetic Counseling
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / mortality
  • Humans
  • Long QT Syndrome / genetics
  • Patient Care Team
  • Sequence Analysis, DNA
  • Tachycardia, Ventricular / genetics
  • Translational Research, Biomedical

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia