Author, as appears in the article.: Martínez-Barrios E; Grassi S; Brión M; Toro R; Cesar S; Cruzalegui J; Coll M; Alcalde M; Brugada R; Greco A; Ortega-Sánchez ML; Barberia E; Oliva A; Sarquella-Brugada G; Campuzano O

Department: Ciències Mèdiques Bàsiques

URV's Author/s: Barberia Marcalain, Eneko

Keywords: american-college cardiomyopathy exome forensic genes genetics guidelines inherited arrhythmogenic syndromes medical genetics sudden cardiac death unexplained death variant-interpretation victims Coronary-artery-disease Forensic Genetics Inherited arrhythmogenic syndromes Molecular autopsy Sudden cardiac death

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.

Thematic Areas: Biodiversidade Ciências biológicas i Farmacia General medicine Medicina ii Medicine (all) Medicine (miscellaneous) Medicine, general & internal Medicine, research & experimental Oncology

licence for use: https://creativecommons.org/licenses/by/3.0/es/

Author's mail: eneko.barberia@urv.cat eneko.barberia@urv.cat

Author identifier: 0000-0001-5804-3597 0000-0001-5804-3597

Record's date: 2023-05-13

Papper version: info:eu-repo/semantics/publishedVersion

Link to the original source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9950119/

Papper original source: Frontiers Of Medicine. 10

APA: Martínez-Barrios E; Grassi S; Brión M; Toro R; Cesar S; Cruzalegui J; Coll M; Alcalde M; Brugada R; Greco A; Ortega-Sánchez ML; Barberia E; Oliva A; S (2023). Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death. Frontiers Of Medicine, 10(), -. DOI: 10.3389/fmed.2023.1118585

Licence document URL: http://repositori.urv.cat/ca/proteccio-de-dades/

Article's DOI: 10.3389/fmed.2023.1118585

Entity: Universitat Rovira i Virgili

Journal publication year: 2023

Publication Type: Journal Publications