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

Abstract

An episode of sudden death in a young individual is a dramatic event for family members but also a challenge for cardiologists, pediatricians, forensic pathologists and researchers. In the young population, most of sudden deaths are of cardiac origin, in particular due to hereditary cardiac disorders. The autopsy protocol includes a proper macroscopic heart examination and a comprehensive histological analysis. The identification of pathognomonic histopathologic findings may help to unravel the cause of death, but microscopic features are often non-specific and highly ambiguous. Negative autopsy leads to classify the decease as a sudden arrhythmic death syndrome despite concealed cardiomyopathies may be also suspected. The molecular autopsy helps to identify the pathogenic genetic alteration associated with the arrhythmogenic episode leading to the sudden cardiac death. Due to genetic diseases, clinical assessment and genotype-phenotype correlation of relatives is mandatory to early identification of family members at risk and thus adoption of preventive measures, especially in asymptomatic genetic carriers. Specialized teams must carry out a personalized interpretation, integrating all the autopsy findings along with the family history to obtain a conclusive cause of the sudden death. In this review we pretend to update these critical issues.