The Role of Molecular Autopsy in Concealed Cardiomyopathies.
Por:
Campuzano O, Tirón C, Martínez-Barrios E, Greco A, Cruzalegui JC, Chipa F, César-Díaz S, Merchan EF, Coll M, Fernández-Falgueras A, Brugada R, Ortega M, Molina N, Barberia E, Toro R, Oliva A, Grassi S and Sarquella-Brugada G
Publicada:
28 oct 2025
Ahead of Print:
28 oct 2025
Resumen:
A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear structural defect. In cases of sudden death, especially in young patients, the autopsy may be ambiguous and therefore lack a definitive diagnosis of cardiomyopathy, although it can sometimes identify signs that lead us to suspect it. This is one of the current challenges of forensic science, where occult cardiomyopathies often remain unidentified without additional testing that is not routinely included in current forensic protocols. In this protocol, it is crucial to perform a molecular autopsy but also to include additional data, especially family history, that will help conclude or at least suspect this entity. Obtaining this diagnosis or suspicion of concealed cardiomyopathy not only provides an answer to the unexpected death but also helps the relatives determine the cause of death. In addition, physicians should initiate a family assessment to identify other family members who may be at risk early and adopt personalized preventive measures.
Filiaciones:
:
Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain
Institut Investigacions Biomèdiques de Girona, IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Tirón C:
Institut Investigacions Biomèdiques de Girona, IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Girona, Spain
Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr Josep Trueta, 17007 Girona, Spain
Martínez-Barrios E:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Greco A:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Pediatrics Department, School of Medicine, University of Barcelona, 08036 Barcelona, Spain
Cruzalegui JC:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Pediatrics Department, School of Medicine, University of Barcelona, 08036 Barcelona, Spain
:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
César-Díaz S:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Coll M:
Institut Investigacions Biomèdiques de Girona, IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Girona, Spain
Fernández-Falgueras A:
Institut Investigacions Biomèdiques de Girona, IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Girona, Spain
Brugada R:
Institut Investigacions Biomèdiques de Girona, IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Girona, Spain
Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr Josep Trueta, 17007 Girona, Spain
Ortega M:
Forensic Pathology Service, Institut de Medicina Legal i Ciències Forenses de Catalunya, 08075 Barcelona, Spain
Faculty of Medicine, University of Vic-Central University of Catalonia (UVIC-UCC), 08500 Vic, Spain
Molina N:
Forensic Pathology Service, Institut de Medicina Legal i Ciències Forenses de Catalunya, 08075 Barcelona, Spain
Faculty of Medicine, University of Vic-Central University of Catalonia (UVIC-UCC), 08500 Vic, Spain
Barberia E:
Forensic Pathology Service, Institut de Medicina Legal i Ciències Forenses de Catalunya, 08075 Barcelona, Spain
Faculty of Medicine and Health Sciences, University of Rovira and Virgili, 43201 Reus, Spain
Toro R:
Medicine Department, School of Medicine, University of Cadiz, 11003 Cadiz, Spain
Oliva A:
Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Grassi S:
Department of Health Sciences, Section of Forensic Medical Sciences, University of Florence, 50134 Florence, Italy
Sarquella-Brugada G:
Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Pediatrics Department, School of Medicine, University of Barcelona, 08036 Barcelona, Spain
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