Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity

We review the clinical molecular biology approach for the prevention of cardiological diseases, essentially via risk assessment at personal level by DNA analysis. Intense physical activity, particularly during athletic performances, can result in syncope or even cardiac arrest, often followed by sudden cardiac death. An approach to the prevention of such tragic events is predictive medicine (presence of pathogenic mutations in cardiac genes), besides the conventional tools used in cardiology (mainly electro and echocardiogram under stress conditions). Accordingly, we list the major cardiac diseases and their related genes and derivative proteins which are instrumental for normal heart function. Alterations can occur in ion channel genes, in genes encoding desmosomial and junctional proteins, sarcomeric and Z-disc proteins, proteins for the cytoskeleton at the nuclear envelope, and in genes encoding mitochondrial proteins. Thus, we constructed two sets of gene panels: one set to discriminate among confounding heart diseases, and another set based on a cost-benefit criterion according to the most or less frequent genes bearing pathogenic variants that entail a higher or lower predisposing risk. This approach should be used to monitor pre-participation athletes and also amateurs who belong to families in which at least 1-2 subjects are affected by cardiac alterations. The risk should be identified with the aim to monitor subjects in order to prevent cardiac arrest and even sudden cardiac death.