Sudden unexplained cardiac deaths in young adults: a call for multidisciplinary approach

Area of Science:

• Cardiology
• Genetics
• Forensic Pathology

Background:

• Sudden death in young, healthy individuals (<35 years) necessitates thorough cardiac examination.
• Autopsies, while crucial, are not always mandatory, leading to unexplained cardiac death cases labeled as autopsy-negative sudden unexplained cardiac death (SUD).
• Legal and ethical considerations often influence the decision to perform autopsies.

Purpose of the Study:

• To highlight the importance of molecular autopsy in investigating unexplained cardiac deaths in young individuals.
• To emphasize the need for a multidisciplinary approach in diagnosing the genetic underpinnings of SUD.
• To underscore the role of genetic findings in guiding preventive strategies and genetic counseling for families.

Main Methods:

• Detailed autopsy with a specific focus on cardiac examination.
• Comprehensive medicolegal investigation.
• Cardiac molecular autopsy involving collaboration between medical examiners, pathologists, cardiologists, geneticists, and family physicians.

Main Results:

• A significant percentage of sudden deaths in young individuals remain unexplained even after standard autopsy, termed autopsy-negative SUD.
• Molecular autopsy facilitates the identification of genetic causes for SUD.
• Multidisciplinary collaboration is key to uncovering the causes of cardiac death.

Conclusions:

• Cardiac molecular autopsy is essential for diagnosing the cause of death in young individuals with unexplained sudden cardiac events.
• Identifying genetic causes of SUD through a multidisciplinary approach enables targeted genetic counseling and preventive measures, such as implantable cardioverter-defibrillator (ICD) implantation, for at-risk relatives.