Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation

摘要: Background Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies enable unraveling etiology and identification relatives at risk. The aim our study was to define natural deaths, younger than 50 years age, investigate whether defects associated with diseases could provide a potential for cases. Methods Findings Our cohort included total 789 consecutive cases (77.19% males) <50 old (average 38.6±12.2 old) who died suddenly from non-violent causes. A comprehensive autopsy performed according current forensic guidelines. During cause identified in most (81.1%), mainly due alterations (56.87%). In cases, analysis main genes sudden using Next Generation Sequencing technology. Genetic suspected (cardiomyopathy) death, potentially pathogenic variants nearly 50% 40% samples, respectively. Conclusions Cardiac disease is important especially after age 40. Close 10% remain complete investigation. Molecular explanation significant part these cases. Identification variations enables counseling undertaking preventive measures