Molecular genetic testing in athletes: why and when. A position statement from the Italian Society of Sports Cardiology

Silvia Castelletti, Alessandro Zorzi, Enrico Ballardini, Cristina Basso, Alessandro Biffi, Francesco Brancati, Elena Cavarretta, Lia Crotti, Maurizio Contursi, Antonio D'Aleo, Flavio D'Ascenzi, Pietro Delise, Antonio Dello Russo, Giovanni Gazale, Lucio Mos, Valeria Novelli, Zefferino Palamà, Stefano Palermi, Vincenzo Palmieri, Giampiero Patrizi, Antonio Pelliccia, Kalliopi Pilichou, Silvio Romano, Patrizio Sarto, Peter J. Schwartz, Monica Tiberi, Paolo Zeppilli, Domenico Corrado, Luigi Sciarra

Molecular genetic testing is an increasingly available test to support the clinical diagnosis of inherited cardiovascular diseases through identification of pathogenic gene variants and to make a preclinical genetic diagnosis among proband's family members (so-called “cascade family screening”). In athletes, the added value of molecular genetic testing is to assist in discriminating between physiological adaptive changes of the athlete's heart and inherited cardiovascular diseases, in the presence of overlapping phenotypic features such as ECG changes, imaging abnormalities or arrhythmias (“grey zone”). Additional benefits of molecular genetic testing in the athlete include the potential impact on the disease risk stratification and the implications for eligibility to competitive sports....

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