Key result
Next-generation exome sequencing in cases of sudden death identified 12 structural variants associated with cardiomyopathies and 7 variants associated with cardiac channelopathies.
Why the study?
Determining genetic variants predisposing to sudden cardiac death in structurally normal hearts can serve as an important complement in autopsies of undetermined deaths.
Does clinical exome sequencing identify potentially pathogenic genetic variants in young individuals with unexplained sudden cardiac death?
Case-Control (n=5)
Does clinical exome sequencing identify potentially pathogenic genetic variants in young individuals with unexplained sudden cardiac death?
Post-mortem clinical exome sequencing in cases of unexplained sudden cardiac death can identify potentially pathogenic variants in genes associated with cardiomyopathies and channelopathies, highlighting its utility in forensic pathology and familial risk assessment.
Answers are grounded in this paper and cite their sources.
May aid forensic autopsies in unexplained sudden death; leaves open clinical utility pending validation studies.
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.
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Joseph Alape Ariza (2023) conducted a case-control in Sudden cardiac death (n=5). Next-generation sequencing of the exome vs. Controls was evaluated on Genetic variants associated with cardiomyopathies and cardiac channelopathies. Next-generation exome sequencing in cases of sudden death identified 12 structural variants associated with cardiomyopathies and 7 variants associated with cardiac channelopathies.
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