Di Fusco Stefania Angela, Castelletti Silvia, Chimenti Cristina, Nesti Martina, Pignalberi Carlo, Grego Susanna, Costantino Jacopo, Matteucci Andrea, Gil Ad Vered, Lucà Fabiana, Bilato Claudio, Riccio Carmine, Nardi Federico, Geraci Giovanna, Gabrielli Domenico, Grimaldi Massimo, Oliva Fabrizio, Colivicchi Furio
U.O.C. Cardiologia Clinica e Riabilitativa, Presidio Ospedaliero San Filippo Neri - ASL Roma 1, Roma.
Dipartimento di Cardiologia, IRCCS Istituto Auxologico Italiano, Milano.
G Ital Cardiol (Rome). 2025 Jun;26(6):432-440. doi: 10.1714/4501.45024.
Genetic tests are useful in the, even early, diagnosis and management of various hereditary pathologies with cardiovascular involvement such as cardiomyopathies, arrhythmic diseases, and aortic diseases. The diagnosis of these diseases can be challenging in athletes where the ECG and echocardiogram show physiological alterations due to intense physical activity. However, if performed inappropriately and if not interpreted by a team of professionals with multidisciplinary skills, genetic tests can lead to unnecessary disqualifications from sports activity with important psychological repercussions as well as on the athlete's career. This review analyzes the potential role of genetic tests in the presence of clinical/instrumental findings (ECG, imaging) that require a precise distinction between adaptive changes in the athlete's heart and hereditary pathologies. Furthermore, the impact of test results in prognostic stratification in athletes with a defined diagnosis is discussed. The objective is to provide clinicians, who in their work find dubious clinical pictures or previous diagnoses of dubious prognostic significance, with the basic tools to decide when to recommend genetic testing. The review examines the role of genetic tests in athletes in three specific cardiological contexts: cardiomyopathies, channelopathies, and aortic diseases.
