Utility of genetic testing in athletes

Clin Cardiol. 2020 Aug;43(8):915-920. doi: 10.1002/clc.23289. Epub 2020 Jan 11.


Athletes are some of the fittest members of our society, yet paradoxically carry an increased risk of sudden cardiac death (SCD). The athlete's underlying risk of SCD in sports may be increased due to a number of underlying structural, arrhythmic and inherited cardiac conditions (ICCs). There are also physiological adaptations, which occur in the cardiovascular system in athletes as a result of high-level athletic activity and may be misinterpreted as pathology. Differentiation of "athlete's heart" from heart disease may be challenging due to the effects of exercise on the electrical and structural cardiac remodeling. Features such as prolongation of the QT interval, left ventricular hypertrophy and cavity dilatation, create significant overlap between physiology and inherited channelopathies and cardiomyopathies. Most inherited cardiac conditions have an underlying genetic basis to disease and genetic testing in an athlete can have diagnostic, prognostic and therapeutic implications, including guiding exercise recommendations. Therefore, genetic testing can be a useful diagnostic tool when used carefully and appropriately by a trained cardio-genetics expert.

Keywords: athlete; athlete's heart; cardiomyopathy; channelopathy; genetics; sudden cardiac death.

Publication types

  • Review

MeSH terms

  • Athletes*
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / physiopathology
  • Genetic Testing / statistics & numerical data*
  • Humans
  • Risk Factors
  • Ventricular Remodeling / physiology*