Articles producció científica> Ciències Mèdiques Bàsiques

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

  • Datos identificativos

    Identificador: imarina:9292257
    Autores:
    Martinez-Barrios, EstefaniaGrassi, SimoneBrion, MariaToro, RocioCesar, SergiCruzalegui, JoseColl, MonicaAlcalde, MireiaBrugada, RamonGreco, AndreaLuisa Ortega-Sanchez, MariaBarberia, EnekoOliva, AntonioSarquella-Brugada, GeorgiaCampuzano, Oscar
    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.
  • Otros:

    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
  • Palabras clave:

    Medicine (Miscellaneous),Medicine, General & Internal,Medicine, Research & Experimental,Oncology
    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
    Oncology
    Medicine, research & experimental
    Medicine, general & internal
    Medicine (miscellaneous)
    Medicine (all)
    Medicina ii
    General medicine
    Farmacia
    Ciências biológicas i
    Biodiversidade
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