[Molecular autopsy of sudden cardiac death: from postmortem to clinical approach]

Area of Science:

• Cardiology
• Forensic Medicine
• Genetics

Background:

• Sudden cardiac death (SCD) is a significant cause of mortality in developed nations.
• The etiology of SCD varies with age and can be linked to cardiac diseases with subtle or absent anatomical findings.
• Genetic factors underlie several cardiac conditions, including channelopathies and hypertrophic cardiomyopathy.

Purpose of the Study:

• To highlight the role of genetic analyses in determining the cause of sudden cardiac death.
• To emphasize the utility of molecular autopsy in forensic investigations.
• To underscore the importance of genetic testing for early diagnosis in relatives of SCD victims.

Main Methods:

• Review of etiological factors contributing to sudden cardiac death.
• Discussion of the application of genetic analyses (molecular autopsy) in forensic medicine.
• Exploration of the diagnostic potential for asymptomatic carriers within families.

Main Results:

• Genetic analyses, or molecular autopsy, are increasingly valuable in forensic medicine.
• Identifying genetic causes of SCD can prevent future deaths.
• Early diagnosis of genetic cardiac conditions in relatives can be achieved through molecular autopsy.

Conclusions:

• Molecular autopsy is a crucial tool for identifying the causes of sudden cardiac death, especially when traditional autopsy reveals minimal findings.
• Genetic testing improves the diagnosis of inherited cardiac diseases, enabling proactive management and risk assessment for family members.
• Integrating genetic analysis into forensic investigations enhances our understanding of SCD etiology and facilitates cascade screening in affected families.