ESC genetic testing recommendations address the risk of sudden cardiac death in athletes

The recommendations discuss the appropriate use and diagnostic, prognostic, and therapeutic effects of cardiac genetic testing, including guidance on the effect of exercise.

The European Society of Cardiology issued recommendations on Friday for physicians, nurses and allied health professionals regarding the use of genetic testing To prevent sudden cardiac death (SCD) in athletes and enable safe exercise.

Posted in European Journal of Preventive CardiologyAnd the accompanying statement He noted that up to 80% of athletes who die from sickle-cell heart disease have no symptoms or a family history of heart disease. High-level exercise can lead to electrical and structural heart remodeling that mimics inherited heart diseases (ICCs).

The researchers noted that “Genetic studies over the past 30 years have identified many genetic variants that support ICCs and advances in technology have transformed genetic testing into an easily available and affordable clinical tool that may aid in diagnosis, management, and prognosis.” “The role of genetic testing in the assessment and management of athletes with suspected cardiac disease is often unclear outside the context of centers specializing in cardiac genetics.”

The recommendations are divided into two parts, with the first part providing guidance on the appropriate use of genetic testing in the evaluation of athletes, while the second part presenting common clinical scenarios in sports cardiology practice, outlining the diagnostic, prognostic and therapeutic implications of such a test.

Study author Michael Papadakis, MBBS, MD, MRCP, FESC, Senior Lecturer in Cardiology at St George’s, University of London, noted that genetic testing for potentially lethal variants is more accessible than ever, but advice should be given. For athletes, especially professionals. on possible outcomes prior to evaluation because it may mean exclusion or restriction of play.

Certain cases have occurred where an athlete may appear normal on clinical tests but have a family risk of developing a particular condition. In these cases, pre-athletic genetic counseling can assist in deciding whether annual clinical monitoring to assess signs of disease or genetic testing, which may have career termination implications, should be adhered to.

“Even if a genetic abnormality is found, recommendations for treatment and a return to play usually depend on how clinically severe the disease is,” Papadakis said.

He added that when such abnormalities are detected, clinical evaluation will determine the need for preventive treatment, as well as advice on exercise and participation in competitive sports.

The use of genetic testing in marked ICCs of concern such as hypertrophic cardiomyopathy, the most common cause of sickle cell anemia in athletes under 35 years of age, could be useful to determine the risk of developing this disease and to provide exercise prescription, but its use would not affect management In most cases.

For other conditions such as long QT syndrome (LQTS), an inherited electrical fault in the heart, genetic testing can dictate management because identifying different genetic subtypes (LQT 1-3) can clarify risk of arrhythmia, and identify potential triggers that They should be avoided and help target medical treatments and plan exercise tips.

Papadakis added: “For example, sudden immersion in cold water is more likely to cause life-threatening arrhythmias in type 1 LQT rather than type 2 or 3, so one should be more careful with swimmers who have the genetic subtype. One of the first type of runners.” .

Along with pre-test counseling for genetic testing, post-test counseling is also recommended to address potential psychological, social, financial, and mental effects of the results, particularly if testing determines that the athlete should be excluded from play. For athletic children, genetic counseling at a specialized pediatric center with the help of a child mental health professional may be needed.

The study authors concluded that “Genetic testing in athletes may aid in diagnosis, arrhythmia risk learning and prognosis, and management guidance, including informing athletes’ exercise prescription and facilitating a ‘safe return to play’ to recreational or competitive sports.” The study authors concluded, “Proper counseling before and after testing will ensure that the athlete and all stakeholders understand the potential implications of genetic testing in terms of ethical, legal and financial ramifications.”


Castelletti S, Gray B, Basso C, et al. Indications and utility of cardiac genetic testing in athletes. Eur J Ex Cardiol. Published online June 17, 2022. doi: 10.1093/eurjpc/zwac080