Indications and utility of cardiac genetic testing in athletes

Sports Cardiology practice commonly involves evaluation of athletes for genetically determined cardiac conditions that predispose to exercise-induced malignant arrhythmias and sudden cardiac death. Regular exercise may lead to electrical and structural cardiac remodelling (“athlete’s heart”) which overlaps with mild features of disease, also known as the “grey zone”.

Differentiation of “athlete’s heart” from inherited cardiac conditions may be challenging and involves using a whole array of investigations. In the past decade, technological advances have made genetic testing a more readily available tool. The mismatch between the availability of genetic testing and knowledge relating to its exact role in the investigation of athletes, and in particular athletes that fall within the “grey zone”, raises concerns relating to inappropriate testing. This is particularly the case outside the context of structured, multidisciplinary, cardiogenetics clinics.

Genetic testing in an athlete may impact on diagnosis, prognosis, therapy and, most of all, on exercise recommendation: it has indeed been incorporated in contemporary exercise recommendations by the Sports Cardiology and Exercise section of the European Association of Preventive Cardiology (EAPC) and in the 2020 Guidelines of the European Society of Cardiology (ESC) on sports cardiology and exercise in patients with cardiovascular disease. Genetic testing results, however, are not always conclusive, accurate interpretation can be challenging and can cause uncertainty. The value of genetic testing varies depending on the condition under investigation and is significantly lower for athletes in the “grey zone”.

The consensus addresses issues relevant to genetic testing in an athlete such as: can genetic testing be used for screening? When should athlete’s in the “grey zone” be tested? What is the value of genetic testing in athletes with uncertain feature of a disease? And in athletes with a diagnosis or high suspicion of an inherited cardiac condition: What are the implications of genetic testing in sport participation?

The document was written by international experts, including doctors and scientists, of the Sports Cardiology section of the European Association of Preventive Cardiology (EAPC) with the collaboration of the major professional European societies including the European Heart Rhythm Association (EHRA), the Council on Cardiovascular Genomics, the Working Group on Myocardial and Pericardial Diseases, the European Society of Human Genetics (ESHG) and the Association for European Paediatric and Congenital Cardiology (AEPC).

The first part of the document provides an overview of basic terminology and principles and offers guidance on the appropriate use of genetic testing in the assessment of athletes. The second part of the document addresses the appropriate use of genetic testing in the assessment of athletes, using common clinical scenarios. For each scenario the document outlines the diagnostic, prognostic and therapeutic implications of genetic testing.

The main recommendations stress on the importance of considering all the potential benefits and pitfalls when contemplating genetic testing in athletes and offer a roadmap to genetic testing. It is important that prior to proceeding with genetic testing, the athlete has undergone appropriate genetic counselling relating to the potential implications, challenges and limitations of the test. Following the test, any alteration identified should be communicated to the athlete with appropriate post-test genetic counselling and support. The document emphasizes the need of performing an appropriate genetic counselling by trained health care professionals working within a multidisciplinary team in specialized centers.

This document is aimed at physicians, nurses and allied health professionals involved in the athlete’s care. It was created to address the needs of the broader sports cardiology community, most of whom work outside specialized cardio-genetics centres, when faced with the evaluation and management of athletes with suspected inherited cardiac disorders.


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Translated by Silvia Casteletti, IRCCS Istituto Auxologico Italiano, Milan, Italy

Castelletti S, Gray B, Basso C, Behr ER, Crotti L, Elliott PM, Gonzalez Corcia CM, D’Ascenzi F, Ingles J, Loeys B, Pantazis A, Pieles GE, Saenen J, Sarquella Brugada G, Sanz de la Garza M, Sharma S, Van Craenebroek EM, Wilde A, Papadakis M. Indications and utility of cardiac genetic testing in athletes. Eur J Prev Cardiol. 29, 1582-1591, 2022. PMID: 36070487