European associations issue statement on genetic testing of athletes

A scientific statement on genetic testing in athletes has been issued by the European Society of Cardiology (ESC), the European Heart Rhythm Association (EHRA), the European Society of Human Genetics (ESHG) and the Association of European Pediatric and Congenital Cardiology (EPCC). Research is needed to prevent sudden death and ensure safe exercise. The paper was published in the European Journal of Preventive Cardiology.

According to the main author Michael Papadakis (Michael Papadakis) from St George’s University of London, the document outlines which athletes should be tested and when. This can aid diagnosis, identify arrhythmia risk, clarify treatment and prognosis, and promote a safe return to play. Genetic testing should be considered as part of a comprehensive cardiac evaluation of athletes.

If a genetic abnormality is detected, recommendations for treatment and exercise depend on the clinical course, the presence of symptoms, heart rhythm disturbances, and worsening of symptoms during exercise.

One of the conditions for which recommendations and restrictions on physical activity have been revised is hypertrophic cardiomyopathy. According to Dr. Papadakis, while there used to be more conservative, restrictive approaches, these have changed in the current document. Recommendations are made after assessing the risk of sudden cardiac death.

Asymptomatic athletes with hypertrophic cardiomyopathy classified as low risk may potentially participate in competitive sports. If the risk is increased, the load is limited to moderate-intensity exercise.

Genetic testing for long QT syndrome (LQTS) can help identify subtypes of the disease (LQT 1-3), refine treatment approaches, and guide exercise recommendations. Sudden immersion in cold water can cause life-threatening arrhythmias in LQT type 1 more often than in LQT types 2 and 3, which is important for competitive swimmers rather than track and field athletes.

The only disease that requires abstinence from competitive sports if detected is arrhythmogenic cardiomyopathy. Even in the absence of clinical manifestations, but if a gene indicating the presence of the disease is identified, one should refrain from intense and competitive sports. Research shows that exercise can cause life-threatening arrhythmias.

Child athletes should undergo genetic counseling at a specialized center for children.

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