Forensic pathological and genetic landmarks in sudden cardiac death in the young: An update

Area of Science:

• Cardiology
• Genetics
• Forensic Pathology

Background:

• Sudden death in young people is often cardiac-related, frequently due to inherited heart disorders.
• Autopsies can identify causes, but histological findings are often ambiguous, leading to diagnoses like sudden arrhythmic death syndrome.
• Concealed cardiomyopathies may be suspected even with negative autopsies.

Purpose of the Study:

• To review critical issues in investigating sudden cardiac death in the young.
• To highlight the role of molecular autopsy in identifying genetic causes.
• To emphasize the importance of family assessment for preventive measures.

Main Methods:

• Review of autopsy protocols, including macroscopic and histological examination.
• Integration of molecular autopsy for genetic alteration identification.
• Clinical assessment and genotype-phenotype correlation in relatives.

Main Results:

• Pathognomonic histopathologic findings can be elusive, with microscopic features often non-specific.
• Molecular autopsy aids in detecting pathogenic genetic variants.
• Family screening is essential for identifying at-risk individuals.

Conclusions:

• A conclusive cause of sudden death requires integrating autopsy findings, family history, and molecular data.
• Early identification of genetic carriers through family assessment is vital for preventive strategies.
• Specialized teams are necessary for personalized interpretation of complex cases.