Ante-mortem characterization of sudden deaths as first-manifestation in Italy

PURPOSE: There is a relative paucity of data on ante-mortem clinical characteristics of young (age 1 to 35 years) sudden death (SD) victims. The aim of the study was to characterize ante-mortem characteristics of SD victims, in a selected national cohort identified by a web search. METHODS: A dataset of all SD (January 2010 and December 2015) was built from national forensic data and medical records, integrated with Google search model. Families were contacted to obtain consent for interviews. Data were obtained on ante-mortem symptoms. ECG characteristics and autopsy data were available. RESULTS: Out of 301 SD cases collected, medical and family history was available in 132 (43.9%). Twenty-eight (21.1%) had a positive family history for SD. SD occurred during sport/effort in 76 (57.6%). One hundred twelve (85%) SD cases had no prior reported symptoms. Autopsy data were available in 100/132 (75.8%) cases: an extra cardiac cause was identified in 20 (20%). Among the 61 cases with a cardiac diagnosis, 21 (34%) had hypertrophic cardiomyopathy. Among the 19 (19%) victims without structural abnormalities, molecular autopsy identified pathogenic variants for channelopathies in 9 cases. Ten (10%) victims had no identifiable cause. CONCLUSIONS: Most SD were due to cardiac causes and occurred in previously asymptomatic patients. SD events mainly occurred during strenuous activity. In a minority of cases, no cause was identified. The web-based selection criteria, and incomplete data retrieval, need to be carefully taken into account for data interpretation and reproducibility. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10840-021-00949-5.