Genetic evaluation in athletes and cascade family screening: reply

We acknowledge D’Silva and Sheikh for their comment on the manuscript ‘Yield of clinical significance and genetic screening in elite and amateur athletes’.1,2 We agree with them that, starting from different study protocols [T-wave inversion on 12-lead electrocardiography (ECG) vs. clinical markers at family history, 12-lead ECG, imaging, and stress test/ECG Holter], and analysing different cohort of athletes (both Caucasian and Afro-Caribbean in their study; all Caucasian in our study), the results are similar, revealing comparable diagnostic yields from genetic testing (Sheikh et al. 10%; Limongelli et al. 13%) (Figure 1).2,3 However, we need to clarify a general concept that differentiates the two studies. All the athletes enrolled in our study underwent a comprehensive clinical and instrumental evaluation prior to genetic testing, including family and personal history, physical examination, standard 12-lead ECG, exercise stress test, and echocardiography. Furthermore, those who showed at...