Genetic insights of pediatric sudden cardiac death: A case report of anomalous left coronary artery originating from the right sinus of Valsalva

Introduction: Sudden cardiac death (SCD) in children is an uncommon but devastating occurrence. It is most often associated with congenital or acquired cardiac conditions such as cardiomyopathies, structural coronary anomalies, arrhythmias, and, less frequently, trauma-related events like commotio cordis. Coronary artery anomalies are identified in up to 10% of pediatric SCD cases and are usually detected at autopsy. Anomalous origin of the left coronary artery (LCA) from the right sinus of Valsalva (RSV) represents a particularly high-risk variant, especially during physical exertion. Case Report: We describe a 15-year-old Hispanic male who collapsed during physical activity. He had no prior medical or family history, and no substance use. Autopsy revealed an anomalous LCA originating from the RSV. Next-generation sequencing identified a Likely Pathogenic SCN1A mutation and Variants of Uncertain Significance (VUS) in LAMA4 and TRPM4, classified according to ACMG guidelines. Conclusion: This case highlights the importance of comprehensive cardiac and genetic evaluation in pediatric sudden cardiac death. Morphologic assessment combined with molecular testing provides insights into the mechanisms of disease, improves risk stratification, and informs genetic counseling for at-risk family members.