Molecular autopsy : Twenty years of post-mortem diagnosis in sudden cardiac death
Martínez-Barrios, Estefanía (Hospital Sant Joan de Déu (Manresa))
Grassi, Simone (University of Florence)
Brión, María (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares)
Toro, Rocío (Universidad de Cádiz)
Cesar, Sergi (Hospital Sant Joan de Déu (Manresa))
Cruzalegui, José (Hospital Sant Joan de Déu (Manresa))
Coll, Mònica (Institut d'Investigacions Biomèdiques de Girona)
Alcalde, Mireia (Institut d'Investigacions Biomèdiques de Girona)
Brugada, Ramon (Hospital Universitari de Girona Doctor Josep Trueta)
Greco, Andrea (Institut de Recerca Sant Joan de Déu)
Ortega-Sánchez, María Luisa (Universitat Autònoma de Barcelona. Departament de Ciències Morfològiques)
Barberia, Eneko (Universitat Rovira i Virgili)
Oliva, Antonio (Università Cattolica del Sacro Cuore, Rome)
Sarquella-Brugada, Georgia (Hospital Sant Joan de Déu (Barcelona, Catalunya))
Campuzano, Óscar (Institut d'Investigacions Biomèdiques de Girona)

Date:	2023
Abstract:	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.
Grants:	Instituto de Salud Carlos III PI21/00094 Instituto de Salud Carlos III PI19/01283
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Molecular autopsy ; Genetics ; Sudden cardiac death ; Inherited arrhythmogenic syndromes ; Forensic
Published in:	Frontiers in Medicine, Vol. 10 (february 2023) , ISSN 2296-858X

DOI: 10.3389/fmed.2023.1118585
PMID: 36844202

12 p, 2.6 MB

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