Genetics, genetic testing and sports: Aspects from sports cardiology

Abstract

There is a major trade-off between improvements in longevity, general health, fitness and quality of life due to regular intense physical activity on the one hand and possible cardiac risks on the other hand, whether for participants in leisure time sports activities or for highly trained athletes. Cardiac complications and sudden death in sports, even though rare, but dramatic, events, are mainly observed in those suffering from inherited, often latent diseases with a strong genetic background, unknown to the subjects. Sedentary lifestyle together with more than one risk factor may also contribute to cardiac events in persons beginning to exercise for the first time or recommencing intense physical activities after a long pause.

Manifestations of inherited cardiac diseases with a typical genetic component may occur in children or adolescents, but also in adults. For many inherited cardiac diseases there is a large body of knowledge on the genetic origin, therefore, genetic testing may be a valuable tool for diagnosis and prevention of underlying diseases, especially as genetic testing has become much cheaper over the last few years.

The present paper describes cardiac diseases with genetic disposition and related genetic testing and presents recommendations for genetic examinations. Testing should be of benefit for sportsmen and women but also for family members to prevent fatal cardiac events. These recommendations will consider benefits for the sports person, and ethical reflections as well.

Note

please consult PDF for full article