Challenges in Interpretation and Reporting of Gross, Histologic, and Genetic Autopsy Findings

Sudden unexpected death in young adults poses significant challenges for both forensic and clinical medicine. The integration of genetic testing in postmortem investigations has provided valuable insights into the potential role of genetic variants in cardiac-related mortality, particularly in cases involving cardiomyopathies. Here, we report 3 cases of sudden death in active-duty military personnel where anatomic findings alone were sufficient for a cause of death determination. However, postmortem genetic testing identified 3 distinct genetic variants, thus providing complementary diagnostic information and enabling targeted genetic counseling and risk assessment for surviving family members. These cases demonstrate the importance of gross, histologic, and genetic findings in identifying underlying causes of death, guiding family counseling, and improving our understanding of genotype-phenotype relationships in inherited cardiac conditions.