Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy

The prevention of sudden cardiac death in asymptomatic athletes, unknowingly suffering from cardiac disease, is an important objective that involves many areas of the medical profession and of the healthcare systems in general. Here we report the case of an asymptomatic amateur athlete, who, in the setting of pre-participation screening to obtain clearance to take part in competitive sporting event, underwent cardiac clinical and instrumental examinations to ensure the absence of cardiomyopathy. Electrocardiography revealed mild repolarization abnormalities and echocardiography showed borderline septal wall thickness. Anamnestic and instrumental data suggested an underlying genetic alteration. Molecular analysis revealed double heterozygosity for mutations in the TNNT2 (c.832C>T; p.R278C) and MYBPC3 (c.2689_2690ins19nt; p.G897AfsX159) genes. Molecular analysis led to an accurate characterization of the cardiac alteration present in this athlete. This case report highlights that molecular analysis can reveal DNA alterations in asymptomatic athletes, which in many cases could cause sudden cardiac death. This and previous cases show that Clinical Molecular Biology is now an essential addition to the clinical and instrumental approach to the evaluation of cardiac wellness, which could otherwise remain obscure.