2026-04-17T15:49:14Zhttps://recercat.cat/oai/request

oai:recercat.cat:10256/212962024-06-18T12:41:47Zcom_2072_452955com_2072_2054col_2072_453079

00925njm 22002777a 4500 dc Grassi, Simone author Coll Vidal, Mònica author Campuzano Larrea, Oscar author Arena, Vincenzo author Alfonsetti, Alessandro author Strano-Rossi, Sabina author Scarnicci, Francesca author Iglesias, Anna author Brugada, Ramon author Oliva, Antonio author 2021-05-17 Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case of a 20-year-old man who suddenly died after reportedly having smoked cannabis. Autopsy, toxicology, and genetic testing were performed. Autopsy found a long and thick myocardial bridging (MB) at 2 cm from the beginning of the left anterior descending coronary artery. Furthermore, at the histopathological examination, fibrosis and disarray in myocardial area above the MB, fatty tissue in the right ventricle and fibrosis of the sino-atrial node area were found. Toxicology testing was inconclusive, while genetic testing found a rare missense variant of the TTN gene, classified as likely benign, and a variant of unknown significance in the SLMAP gene (a gene that can be associated with BrS). Hence, despite several atypical features were found, no inference on the cause of the death could be made under current evidence http://hdl.handle.net/10256/21296 Mort sobtada Sudden death Malalties congènites Genetic disorders Brugada, Síndrome de Brugada syndrome Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings