Specialist cardiovascular screening in adolescent athletes: preliminary insights from a regional prevention initiative

Abstract Background Sudden cardiac death in young athletes may result from undiagnosed structural or hereditary cardiovascular disease. Adolescence is a vulnerable period during which several cardiomyopathies first manifest, and intensive athletic activity may amplify clinical risk. Purpose To report preliminary findings from a specialist cardiovascular screening program for adolescent athletes, focusing on early detection of structural and inherited abnormalities and identification of individuals requiring further evaluation. Methods Adolescent athletes aged 14–17 years engaged in recreational or competitive sports underwent specialist cardiovascular assessment. The program aimed to detect early warning signs of serious cardiac disease, support accurate diagnosis and timely risk-reducing interventions, and facilitate evaluation of at-risk family members. Family history was collected in two phases: a pre-visit electronic questionnaire and in-clinic confirmation with parents or guardians, sudden cardiac death in relatives, and known or suspected inherited cardiac disease. Exertional symptoms were questioned. A system-based clinical examination focused on cardiovascular assessment and extracardiac signs linked to structural or genetic disease. Vital signs were recorded in all participants. A standard 12-lead ECG was performed, with modified precordial leads when indicated. Transthoracic echocardiography was performed in selected cases based on suspicious symptoms, family history, examination or ECG findings, emphasising morphological markers of cardiomyopathy, congenital heart disease, coronary artery origins, and abnormal Doppler signals. All athletes had previously undergone standard cardiological evaluation in the context of pre-participation assessment, but not by a specialist in sports cardiology. Individuals with abnormal or borderline findings were referred for comprehensive work-up. Data collection is ongoing. Results To date, 285 athletes have undergone echocardiographic assessment; 52 (18%) required referral for further investigation. Confirmed abnormalities include bicuspid aortic valve with mixed aortic valve disease (n=1), ascending thoracic aortic dilatation (n=3), physiological athlete’s heart (n=3), aortopulmonary fistula (n=2), cor triatriatum dexter (n=1), and haemodynamically non-significant atrial septal defect (n=6). Ongoing evaluations include genetic testing for suspected heritable aortopathy, family cascade screening, and cardiac magnetic resonance imaging for suspected cardiomyopathy. Conclusion(s) Specialist sports-focused cardiovascular screening identified multiple previously unrecognised structural or potentially inherited abnormalities in adolescent athletes. As adolescence is a critical period for the first clinical expression of several cardiomyopathies, expert assessment is essential for early detection, risk stratification and prevention in young athletic populations.Bicuspid Aortic Valve with mixed diseaseFor image description, please refer to the figure legend and surrounding text. Aortopulmonary fistulaFor image description, please refer to the figure legend and surrounding text.