[Postmortem genetic analysis following sudden cardiac death : Background, approach, and future]

Area of Science:

• Cardiovascular Genetics
• Molecular Autopsy
• Sudden Cardiac Death (SCD) Etiology

Context:

• Sudden cardiac death (SCD) has varying incidence across age groups, with monogenetic and polygenetic diseases predominating in younger individuals.
• Coronary artery disease is a common cause of SCD in older populations.
• Molecular autopsy is increasingly vital for investigating unexplained SCD.

Purpose:

• To highlight the significance of postmortem genetic analysis in identifying the causes of sudden cardiac death in young patients.
• To emphasize the role of next-generation sequencing in detecting pathogenic genetic alterations.
• To underscore the importance of genetic testing for the early identification and prevention of SCD in at-risk relatives.

Summary:

• Postmortem genetic analysis, utilizing next-generation sequencing, can identify pathogenic genetic alterations in approximately 20% of young sudden cardiac death cases.
• This molecular autopsy approach is essential for unraveling inheritable causes of death.
• Early identification of genetic variants in deceased individuals enables preventive measures for at-risk family members.

Impact:

• Postmortem genetic analysis, combined with clinical assessment, facilitates the early identification of relatives at risk for inherited cardiac conditions.
• Recent European Society of Cardiology guidelines prioritize genetic testing, including in deceased individuals, for diagnosing, stratifying risk, and preventing sudden death.
• This approach enhances personalized medicine strategies for cardiovascular disease prevention.