Retrospective Molecular Analysis in Five Cases Probably Associated with Sudden Death the National Institute of Legal Medicine and Forensic Sciences of Colombia

Abstract

In recent years, significant advances have been made in understanding the genetic factors that predispose to sudden cardiac death, finding multiple affected genes that cause arrhythmic disorders, which could trigger sudden death in structurally normal hearts, to determine these genetic variants. It has an important role as a complement in autopsies of deaths to be determined. Cases and controls were analyzed through the study of the exome by next-generation sequencing. The variants were filtered following international recommendations, different software was used to determine the possible variants associated with cardiomyopathies and cardiac channelopathies. Twelve structural variants were found in six genes associated with different types of cardiomyopathies. Seven variants were found in six genes associated with cardiac channelopathies, and additionally, twenty-one variants were found in twelve genes of uncertain significance, four variants may be of clinical relevance. In deaths whose causes remain to be determined after performing the autopsy and considering negative toxicological, virologic, and microscopy results, it is extremely important to carry out a molecular analysis because the cause of death is possibly due to a channelopathy or an arrhythmia that is difficult to detect during the autopsy.