Frontiers in Medicine (Feb 2023)
Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death
- Estefanía Martínez-Barrios,
- Estefanía Martínez-Barrios,
- Estefanía Martínez-Barrios,
- Simone Grassi,
- María Brión,
- María Brión,
- María Brión,
- María Brión,
- Rocío Toro,
- Sergi Cesar,
- Sergi Cesar,
- Sergi Cesar,
- José Cruzalegui,
- José Cruzalegui,
- José Cruzalegui,
- Mònica Coll,
- Mònica Coll,
- Mireia Alcalde,
- Mireia Alcalde,
- Ramon Brugada,
- Ramon Brugada,
- Ramon Brugada,
- Ramon Brugada,
- Andrea Greco,
- Andrea Greco,
- María Luisa Ortega-Sánchez,
- María Luisa Ortega-Sánchez,
- Eneko Barberia,
- Eneko Barberia,
- Antonio Oliva,
- Georgia Sarquella-Brugada,
- Georgia Sarquella-Brugada,
- Georgia Sarquella-Brugada,
- Georgia Sarquella-Brugada,
- Oscar Campuzano,
- Oscar Campuzano,
- Oscar Campuzano
Affiliations
- Estefanía Martínez-Barrios
- Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain
- Estefanía Martínez-Barrios
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, Amsterdam, Netherlands
- Estefanía Martínez-Barrios
- Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
- Simone Grassi
- Forensic Medical Sciences, Department of Health Science, University of Florence, Florence, Italy
- María Brión
- Family Heart Disease Unit, Cardiology Service, Santiago de Compostela University Hospital, Santiago de Compostela, Spain
- María Brión
- Cardiovascular Genetics, Santiago de Compostela Health Research Institute, Santiago de Compostela, Spain
- María Brión
- Genomic Medicine Group, Universidade de Santiago de Compostela, Santiago de Compostela, Spain
- María Brión
- Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain
- Rocío Toro
- Medicine Department, School of Medicine, University of Cádiz, Cádiz, Spain
- Sergi Cesar
- Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain
- Sergi Cesar
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, Amsterdam, Netherlands
- Sergi Cesar
- Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
- José Cruzalegui
- Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain
- José Cruzalegui
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, Amsterdam, Netherlands
- José Cruzalegui
- Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
- Mònica Coll
- 0Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- Mònica Coll
- 1Cardiovascular Genetics Center, Institut d’Investigacions Biomèdiques de Girona (IDIBGI), University of Girona, Girona, Spain
- Mireia Alcalde
- 0Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- Mireia Alcalde
- 1Cardiovascular Genetics Center, Institut d’Investigacions Biomèdiques de Girona (IDIBGI), University of Girona, Girona, Spain
- Ramon Brugada
- Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain
- Ramon Brugada
- 0Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- Ramon Brugada
- 1Cardiovascular Genetics Center, Institut d’Investigacions Biomèdiques de Girona (IDIBGI), University of Girona, Girona, Spain
- Ramon Brugada
- 2Cardiology Department, Hospital Josep Trueta, Girona, Spain
- Andrea Greco
- Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
- Andrea Greco
- 3Department of Medical and Surgical Sciences of the Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
- María Luisa Ortega-Sánchez
- 4Forensic Pathology Department, Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain
- María Luisa Ortega-Sánchez
- 5School of Medicine, Universitat Autònoma de Barcelona, Cerdanyola del Vallés, Spain
- Eneko Barberia
- 4Forensic Pathology Department, Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain
- Eneko Barberia
- 6School of Medicine and Health Sciences, Universitat Rovira i Virgili, Reus, Spain
- Antonio Oliva
- 7Section of Legal Medicine, Department of Health Surveillance and Bioethics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
- Georgia Sarquella-Brugada
- Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, Spain
- Georgia Sarquella-Brugada
- European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, Amsterdam, Netherlands
- Georgia Sarquella-Brugada
- Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
- Georgia Sarquella-Brugada
- 0Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- Oscar Campuzano
- Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain
- Oscar Campuzano
- 0Medical Science Department, School of Medicine, University of Girona, Girona, Spain
- Oscar Campuzano
- 1Cardiovascular Genetics Center, Institut d’Investigacions Biomèdiques de Girona (IDIBGI), University of Girona, Girona, Spain
- DOI
- https://doi.org/10.3389/fmed.2023.1118585
- Journal volume & issue
-
Vol. 10
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.
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