Research Progress and Forensic Application of Postmortem Genetic Testing in Hereditary Cardiac Diseases

Yi-Ming Dong1, Chen-Teng Yang1, Guo-Zhong Zhang1

  • 1Collaborative Innovation Center of Forensic Medical Molecular Identification, Hebei Key Laboratory of Forensic Medicine, College of Forensic Medicine, Hebei Medical University, Shijiazhuang 050017, China.

Fa Yi Xue Za Zhi
|October 12, 2022
PubMed

Insights

Hereditary cardiac diseases, including channelopathies and cardiomyopathies, cause sudden cardiac death (SCD) in young adults. Postmortem genetic testing aids forensic identification when autopsy findings are inconclusive.

Area of Science:

  • Cardiovascular Medicine
  • Forensic Pathology
  • Molecular Genetics

Background:

  • Hereditary cardiac diseases are a significant cause of sudden cardiac death (SCD) in young individuals.
  • These diseases encompass hereditary cardiomyopathies and channelopathies.
  • Channelopathies often lack distinct autopsy findings, complicating forensic identification.

Purpose of the Study:

  • To systematically review the pathogenesis and molecular genetics of channelopathies and hereditary cardiomyopathies.
  • To discuss the utility of postmortem genetic testing in forensic identification of SCD.
  • To provide a reference for forensic pathology research and SCD identification.

Main Methods:

  • Comprehensive literature review of domestic and international research on channelopathies and hereditary cardiomyopathies.
  • Analysis of genetic and pathogenetic mechanisms.
  • Evaluation of postmortem genetic testing applications in forensic contexts.

Main Results:

  • Hereditary cardiomyopathies can lead to arrhythmia, heart failure, and SCD.
  • Channelopathies present diagnostic challenges due to minimal morphological changes postmortem.
  • Genetic testing offers a potential solution for identifying the cause of death in these cases.

Conclusions:

  • Understanding the molecular basis of hereditary cardiac diseases is crucial for accurate diagnosis.
  • Postmortem genetic testing is a valuable tool for forensic identification of SCD, particularly in channelopathy cases.
  • This review provides essential insights for advancing forensic pathology practices in identifying SCD causes.