Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes.

AIMS: Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden death in young athletes, and substantial interest persists in strategies for timely identification. We assessed the diagnostic efficacy of Italian pre-participation screening programme with 12-lead ECG (in addition to history and physical examination) for identification of HCM.

METHODS AND RESULTS: Four thousand four hundred and fifty members of the Italian national teams, initially judged eligible for competition as a result of systematic pre-participation screening across Italy, subsequently underwent clinical and echocardiographic examination at the Institute of Sports Medicine and Science (Rome) to assess the presence of previously undetected HCM. None of the 4450 athletes showed clinical evidence of HCM. Other cardiac abnormalities were detected in only 12 athletes, including myocarditis (n=4), mitral valve prolapse (n=3), Marfan's syndrome (n=2), aortic regurgitation with bicuspid valve (n=2), and arrhythmogenic right ventricular cardiomyopathy (n=1). In addition, echocardiography identified four athletes with borderline left ventricular wall thickness (i.e. 13 mm) in the 'grey zone' of overlap between HCM and athlete's heart. In two of these athletes, subsequent genetic analysis or clinical changes over an average 8-year follow-up resulted, respectively, in a definitive or possible diagnosis of HCM.

CONCLUSION: The Italian national pre-participation screening programme including 12-lead ECG appears to be efficient in identifying young athletes with HCM, leading to their timely disqualification from competitive sports. These data also suggest that routine echocardiography is not an obligatory component of broad-based screening programmes designed to identify young athletes with HCM.