Objective: We aimed to investigate the impact of the toxicological results found in cases of sudden death (SD) and to correlate the clinical, autopsy and genetic findings with the toxicology results.
Materials and methods: Consecutive SD in people aged between 16 and 50 years with medico-legal autopsies and toxicology studies were included over a 3-year period. The comparison between the toxicological data and demographic characteristics, clinical circumstances, autopsy, and genetic results were taken into account.
Results: 101 cases were finally included. They were predominately males (84%) and the mean age was 39.8 years. 52 (51.5%) cases had positive toxicological findings and in 25 cases (24.8%), toxic compounds were considered the first cause of death. Ethanol was the most frequently identified agent (69%), following by licit drugs (56%) and drugs of abuse (39%). Cases with positive toxicology were younger than those with negative results (37.9±9.1 vs. 41.9±7.8; p=0.02). Patients with more than 3 comorbidities showed an association with positive toxicological results (n=14 vs. n=3; p=0.017). The genetic study was performed in 70 (69.3%) SD cases. We identified pathogenic or likely pathogenic variants in 17.1% cases and uncertain significance variants in 42.8% cases. 58% of these variants were probably related to the cause of death.
Conclusions: A large fraction of SD victims had positive toxicological findings and a quarter of deaths were directly caused by toxic substances. The identification of the factors that trigger SD provides a good approach to contribute in avoiding future episodes.