Multidisciplinary and Personalized Molecular Diagnosis to Solving Sudden Death During Sport

Sudden cardiac death is the leading cause of death among athletes during exercise. These events are devastating for both the family and society, especially when they occur in children and young adults. Some of these unexpected deceases occur in athletes who carry genetic alterations that predispose them to malignant arrhythmias, and exercise is the main trigger for these lethal episodes. These genetic alterations are the origin of inherited arrhythmogenic syndromes, often latent, and the first clinical manifestation can be sudden death itself. It is also important to take into account the toxicology data, since high doses of certain substances, as well as mixtures of them, can also be significant triggers of malignant arrhythmias, especially in genetically predisposed hearts. Genetic studies that can provide a diagnosis can be performed on deceased individuals (molecular autopsy) or on their relatives, who may be carriers of the genetic defect and at risk of malignant arrhythmogenic events. Early identification of individuals at risk allows adoption of preventive measures helping to reduce risk of life-threatening arrhythmogenic episodes. Our study examines the main arrhythmogenic causes of sudden cardiac death in athletes during exercise, highlighting a multidisciplinary interpretation of forensic, clinical, genetic and molecular data to obtain a definite cause for the lethal episode.