Genetics of sudden cardiac death in the young

Clin Genet. 2015 Aug;88(2):101-13. doi: 10.1111/cge.12519. Epub 2014 Nov 22.


Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardiac diseases show an autosomal dominant pattern of inheritance, the risk of carrying the same inherited predisposition is a real concern for the relatives. In this article, we discuss the major causes of primary electrical disorders, cardiomyopathies and thoracic aortic dissection and address issues in genotype-phenotype correlation, personalized management and cardiogenetic counselling.

Keywords: cardiogenetics; cardiomyopathy; primary electrical disorder; thoracic aortic aneurysm.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic / genetics*
  • Arrhythmias, Cardiac / genetics*
  • Cardiomyopathies / genetics*
  • Coronary Artery Disease / genetics*
  • Death, Sudden, Cardiac / pathology*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans