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Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young

Nicole Hellenthal1, Anna Gaertner-Rommel2, Bärbel Klauke2

  • 1Universitätsklinikum Hamburg Eppendorf, Institut für Rechtsmedizin, Butenfeld 34, D-22529 Hamburg, Germany.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
|October 11, 2017
PubMed

Insights

Genetic testing identified underlying heart conditions in 80% of young sudden unexplained death victims. This molecular autopsy approach aids in preventing further family deaths.

Area of Science:

  • Forensic pathology
  • Cardiovascular genetics
  • Molecular diagnostics

Background:

  • Sudden cardiac death (SCD) in younger individuals (<35 years) often stems from genetic cardiomyopathies and arrhythmogenic disorders.
  • Identifying the genetic cause of death is crucial for preventing further fatalities within affected families.

Observation:

  • A study examined 10 forensic cases of sudden unexplained death (SUD) in victims aged 19-40.
  • Next-generation sequencing of 174 candidate genes was performed on DNA from these victims.

Findings:

  • Genetic disposition for heart disease was found in 80% (8/10) of SUD cases.
  • Pathogenic mutations were identified in 3 cases, and variants of uncertain significance in 5 cases.
  • Family screening revealed two additional mutation carriers.

Implications:

  • Molecular genetics significantly enhances post-mortem diagnosis of fatal genetic heart diseases in SUD victims.
  • Integrating molecular genetics into routine forensic and pathological practice is recommended for improved diagnostic yield and family-specific prevention strategies.
Abstract

Keywords:
ArrhythmiaForensicsGeneticsMolecular autopsyNext generation sequencingSudden cardiac death

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