Molecular autopsy in sudden cardiac death

Area of Science:

• Forensic Genetics
• Cardiology
• Molecular Diagnostics

Background:

• Sudden unexplained death often results from inherited arrhythmogenic cardiac diseases.
• Molecular autopsy, a post-mortem genetic analysis, investigates these cases after standard autopsies.
• Identifying genetic causes aids in diagnosing victims and screening at-risk relatives.

Purpose of the Study:

• To determine the genetic cause of sudden unexplained death.
• To enable cascade genetic screening for relatives of victims.
• To facilitate personalized preventive measures against sudden cardiac death.

Main Methods:

• Utilizing next-generation sequencing for rapid and cost-effective genetic analysis.
• Collaborative efforts between forensic scientists, pathologists, and geneticists.
• Investigating cases with inconclusive causes of death post-medico-legal autopsy.

Main Results:

• Successful identification of pathogenic genetic alterations in sudden unexplained death cases.
• Increased genetic yield through interdisciplinary collaboration.
• Challenges remain in interpreting rare genetic variants of ambiguous significance.

Conclusions:

• Molecular autopsy is crucial for diagnosing inherited cardiac diseases and preventing sudden death.
• Genetic diagnosis facilitates targeted screening and personalized preventive strategies for families.
• Further research is needed to resolve the clinical utility of ambiguous genetic variants.