Molecular-genetic diagnostics of sudden cardiac death: the first experience in Belarus
The problem of postmortem diagnostics of sudden death is still present in Belarus: some autopsies remain without a definitive diagnosis, especially when this tragic event occurs suddenly in the presence of complete health and in the absence of structural pathology of the heart. Genetic analysis has only recently been included in the field of forensic medicine, because molecular diagnostics is extremely important for suddenly dead patients in those cases when the final cause of death is notrevealed, even after a complete pathomorphological autopsy. In these cases, the primary causes of death are primary electrical diseases - genetically determined canalopathies. Today more than 100 genes are associated with arrhythmogenic conditions that cause sudden cardiac death (SCD): 40 genes that determine the ion channel pathologies and 60 genes associated with cardiomyopathies. Genetic studies allow not only to verify the cause of disease/death, but also promote early detection of asymptomatic carriers of mutations in the relatives, who had syncope risk. All this lets to personalize the tactics of therapy for successful prevention of arrhythmic episodes.The article presents the first results of molecular diagnostics of SCD in Belarus and a clinical case, which clearly demonstrates the difficulty of differential diagnostics of the desmine gene (DES) cardiac pathology - desminopathy, associated with a high risk of sudden arrhythmic death.