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Recommendations for gene testing athletes

Friday June 17th 2022

Gene testing can be used to prevent sudden cardiac death in athletes, according to recommendations published today.

Dr Michael Papadakis, senior lecturer in cardiology and honorary consultant cardiologist of St George’s, University of London, UK, said the recommendations focus on which athletes should be tested and when.

Writing today in the European Journal of Preventive Cardiology, he said genetic testing for potentially lethal variants is more accessible than ever before but athletes should be counselled on the potential outcomes prior to testing because it could mean exclusion or restricted play.

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

Athletes with hypertrophic cardiomyopathy (HCM), which can cause sudden cardiac death, should now undergo comprehensive clinical evaluation to assess their risk and then be offered an exercise prescription.

Genetic testing in this condition does not impact management in most cases and asymptomatic athletes judged to be at low risk can potentially participate in competitive sports after an informed discussion with their doctor.

“Others at higher risk may be restricted to moderate intensity exercise. The exercise prescription should be as specific as possible and outline how often, for how long, at what intensity, and which exercise or sport is safe,” added Dr Papadakis.

However, genetic testing can dictate management in some cases, such as long QT syndrome (LQTS), an inherited electrical fault of the heart.

Identification of different genetic subtypes (LQT 1-3) can inform the risk of arrhythmias, identify potential triggers to be avoided, and help to target medical therapies and plan exercise advice.

The only situation where genetic testing alone may result in exclusion from play is if the individual has arrhythmogenic cardiomyopathy (ARVC).

“Even if an athlete has no clinical evidence of the disease but has the gene for the condition, he or she should abstain from high intensity and competitive sport,” said Dr Papadakis.

“This is because studies show that people with the gene who exercise at a high level tend to develop the disease earlier in life and tend to develop more severe disease which can cause a life-threatening arrhythmia during sport.”

The report says an expert paediatric centre with assistance from a child mental health specialist may be needed when a child is to be tested because the psychological impact of a positive genetic test result may be significant for the child, especially if it leads to sports exclusion.

Genetic testing could confirm a clinical diagnosis of an inherited condition and in some cases could help to predict the risk of sudden death during sports. Having the gene for catecholaminergic polymorphic ventricular tachycardia (CPVT) may lead to advice for preventive therapies, such as beta blockers, and dictate decisions about exercise.

“This is important as CPVT predisposes to arrhythmias during exercise and can cause sudden death at a very young age,” said Dr Papadakis. “In contrast, the timing of genetic testing in children with a family history of HCM is controversial since in the absence of clinical signs it rarely causes sudden death in childhood.”

The scientific statement was prepared by the Sports Cardiology and Exercise Section of the European Association of Preventive Cardiology, the European Heart Rhythm Association, the ESC Working group on myocardial and pericardial diseases, the ESC Council on Cardiovascular Genomics, the European Society of Human Genetics and the Association for European Paediatric and Congenital Cardiology.

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


Tags: Europe | Fitness | Genetics | Heart Health

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