Genetic testing in athletes

Genetic testing is a valuable tool for the diagnosis of several inherited cardiac disorder. In athletes, it can be beneficial in terms of diagnosis, management, decisions relating to sport participations, and prognosis. Moreover, the identification of disease-causing mutations allows for cascade screening in first-degree family members, due to the autosomal dominant pattern in most inherited cardiac disorders. Inherited cardiac disorders may be responsible for increased risk of sudden cardiac death (SCD) in athletes and can be categorized into two major groups: cardiomyopathies and channelopathies. Most of these events are caused by malignant arrhythmias, such as ventricular fibrillation or ventricular tachycardia degenerating into ventricular fibrillation, and competitive sports and high-intensity physical activity can act as a trigger for these events. Thus, the identification of athletes affected by undiagnosed inherited cardiac disease and the subsequent sport recommendations are vital to minimize the risk of SCD. In this chapter, we will describe the inherited cardiac disorders associated with increased risk for SCD in athletes, focusing on the role of genetic testing in these conditions.