Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening

Introduction: Sudden cardiac death (SCD) of young athletes during competition or training is a tragic event. The long QT syndrome (LQTS) is an arrythmogenic disorder characterized by prolonged ventricular repolarization leading to torsade de pointes evident at electrocardiogram (ECG). Implantable cardioverter defibrillator is an option to revert ventricular fibrillation to sinus rhythm, although the implantation may result in denial of sports participations to the athlete. The authors reviewed the current literature on LQTS in young athletes, to clarify the role of different screening technologies to prevent SCD. Sources of data: A systematic review of the literature was performed applying the PRISMA guidelines according to the PRISMA checklist and algorithm. A comprehensive search of PubMed, Medline, CINAHL, Cochrane, Embase and Google Scholar databases using various combinations of the keywords: 'QT', 'syndrome', 'screening', 'young', 'athletes', 'genetic', 'electrocardiogram', 'echocardiography' and 'prevention' were used. Areas of agreement: Young athletes with LQTS are at greater risk of SCD. Areas of controversy: Different detection screening technologies, including ECG monitoring and genetic testing, are recommended, even though their role is not fully understood. Growing points: ECG and genetic testing screening programmes could reduce the incidence of SCD, and they may positively impact on the health and safety of young athletes during sport. Areas timely for developing research: Further studies should analyze other modalities of screening to allow early detection of cardiovascular conditions to prevent SCD in young athletes.