RT journal article
T1 Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
A1 Martínez Barrios, Estefanía
A1 Grassi, Simone
A1 Brión, María
A1 Toro Cebada, Rocío
A1 Cesar, Sergi
A1 Cruzalegui, José
A1 Coll, Mònica
A1 Alcalde, Mireia
A1 Brugada, Ramón
A1 Greco, Andrea
A1 Ortega Sánchez, María Luisa
A1 Barberia, Eneko
A1 Oliva, Antonio
A1 Sarquella-Brugada, Georgia
A1 Campuzano, Oscar
A2 Medicina
K1 forensic
K1 genetics
K1 inherited arrhythmogenic syndromes
K1 molecular autopsy
K1 sudden cardiac death
AB In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis performed to attempt to unravel the cause of decease in cases remaining unexplained after a comprehensive forensic autopsy. This negative autopsy, classified as negative or non-conclusive, usually occurs in young population. In these cases, in which the cause of death is unascertained after a thorough autopsy, an underlying inherited arrhythmogenic syndrome is the main suspected cause of death. Next-generation sequencing allows a rapid and cost-effectives genetic analysis, identifying a rare variant classified as potentially pathogenic in up to 25% of sudden death cases in young population. The first symptom of an inherited arrhythmogenic disease may be a malignant arrhythmia, and even sudden death. Early identification of a pathogenic genetic alteration associated with an inherited arrhythmogenic syndrome may help to adopt preventive personalized measures to reduce risk of malignant arrhythmias and sudden death in the victim’s relatives, at risk despite being asymptomatic. The current main challenge is a proper genetic interpretation of variants identified and useful clinical translation. The implications of this personalized translational medicine are multifaceted, requiring the dedication of a specialized team, including forensic scientists, pathologists, cardiologists, pediatric cardiologists, and geneticists.
PB Frontiers Media
SN 2296-858X
YR 2023
FD 2023-02-10
LK http://hdl.handle.net/10498/31167
UL http://hdl.handle.net/10498/31167
LA eng
DS Repositorio Institucional de la Universidad de Cádiz
RD 07-nov-2026