Autor según el artículo: Martinez-Barrios, Estefania; Grassi, Simone; Brion, Maria; Toro, Rocio; Cesar, Sergi; Cruzalegui, Jose; Coll, Monica; Alcalde, Mireia; Brugada, Ramon; Greco, Andrea; Luisa Ortega-Sanchez, Maria; Barberia, Eneko; Oliva, Antonio; Sarquella-Brugada, Georgia; Campuzano, Oscar
Departamento: Ciències Mèdiques Bàsiques
Autor/es de la URV: Barberia Marcalain, Eneko / OLIVA RAMAL, ALBERT
Palabras clave: Sudden cardiac death Molecular autopsy Inherited arrhythmogenic syndromes Genetics Forensic Coronary-artery-disease victims variant-interpretation unexplained death sudden cardiac death medical genetics inherited arrhythmogenic syndromes guidelines genetics genes forensic exome cardiomyopathy american-college
Resumen: 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.
Áreas temáticas: Oncology Medicine, research & experimental Medicine, general & internal Medicine (miscellaneous) Medicine (all) Medicina ii General medicine Farmacia Ciências biológicas i Biodiversidade
Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
Direcció de correo del autor: eneko.barberia@urv.cat eneko.barberia@urv.cat
Identificador del autor: 0000-0001-5804-3597 0000-0001-5804-3597
Fecha de alta del registro: 2024-10-12
Versión del articulo depositado: info:eu-repo/semantics/publishedVersion
Enlace a la fuente original: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950119/
URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: Frontiers Of Medicine. 10 1118585-
Referencia de l'ítem segons les normes APA: Martinez-Barrios, Estefania; Grassi, Simone; Brion, Maria; Toro, Rocio; Cesar, Sergi; Cruzalegui, Jose; Coll, Monica; Alcalde, Mireia; Brugada, Ramon; (2023). Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death. Frontiers Of Medicine, 10(), 1118585-. DOI: 10.3389/fmed.2023.1118585
DOI del artículo: 10.3389/fmed.2023.1118585
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2023
Tipo de publicación: Journal Publications