Forensic pathological and genetic landmarks in sudden cardiac death in the young: An update.
Por:
Grassi S, Campuzano O, Ferri E, Leone G, Rossi R, Ortega-Sánchez M, Barberia E, Landin I, Arena V, Sarquella-Brugada G, Brugada R and Oliva A
Publicada:
1 ene 2026
Ahead of Print:
30 jul 2025
Resumen:
An episode of sudden death in a young individual is a dramatic event for family members but also a challenge for cardiologists, pediatricians, forensic pathologists and researchers. In the young population, most of sudden deaths are of cardiac origin, in particular due to hereditary cardiac disorders. The autopsy protocol includes a proper macroscopic heart examination and a comprehensive histological analysis. The identification of pathognomonic histopathologic findings may help to unravel the cause of death, but microscopic features are often non-specific and highly ambiguous. Negative autopsy leads to classify the decease as a sudden arrhythmic death syndrome despite concealed cardiomyopathies may be also suspected. The molecular autopsy helps to identify the pathogenic genetic alteration associated with the arrhythmogenic episode leading to the sudden cardiac death. Due to genetic diseases, clinical assessment and genotype-phenotype correlation of relatives is mandatory to early identification of family members at risk and thus adoption of preventive measures, especially in asymptomatic genetic carriers. Specialized teams must carry out a personalized interpretation, integrating all the autopsy findings along with the family history to obtain a conclusive cause of the sudden death. In this review we pretend to update these critical issues.
Filiaciones:
Grassi S:
Forensic Medical Sciences, Department of Health Science, University of Florence, Florence, Italy
Campuzano O:
University of Girona (UdG), Medical Science Department, School of Medicine, Girona, Spain
Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Salt, Girona, Spain
Ferri E:
Forensic Medical Sciences, Department of Health Science, University of Florence, Florence, Italy
Leone G:
Forensic Medical Sciences, Department of Health Science, University of Florence, Florence, Italy
Rossi R:
Section of Legal Medicine, Department of Health Surveillance and Bioethics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
Ortega-Sánchez M:
Forensic Pathology Department. Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain
School of Medicine. Universitat Pompeu Fabra, Barcelona, Spain
Barberia E:
Forensic Pathology Department. Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain
School of Medicine and Health Sciences. Universitat Rovira i Virgili (URV), Reus, Spain
Landin I:
Forensic Pathology Department. Institut de Medicina Legal i Ciències Forenses de Catalunya (IMLCFC), Barcelona, Spain
School of Medicine and Health Sciences. Universitat Rovira i Virgili (URV), Reus, Spain
Arena V:
Section of Anatomic Pathology, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy
Anatomic Pathology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rom, Italy
Sarquella-Brugada G:
University of Girona (UdG), Medical Science Department, School of Medicine, Girona, Spain
Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Catalonia, Spain
Malalties Cardiovasculars en El Desenvolupament, Institut de Recerca Sant Joan de Déu (IRSJD), Arrítmies Pediàtriques, Cardiologia Genètica I Mort Sobtada, Esplugues de Llobregat, Barcelona, Spain
Pediatric Department, School of Medicine, Universitat de Barcelona, Barcelona, Spain
Brugada R:
University of Girona (UdG), Medical Science Department, School of Medicine, Girona, Spain
Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Salt, Girona, Spain
Cardiovascular Genetics Center, University of Girona, Girona, Spain
Oliva A:
Section of Legal Medicine, Department of Health Surveillance and Bioethics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy
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