Brugada syndrome in the forensic field: what do we know to date?
Brugada Syndrome is a cardiac genetic entity associated with an elevated risk of life-threatening arrhythmias, making accurate and prompt diagnosis vital to prevent lethal outcomes. To date, no macroscopic alterations have been identified in diagnosed patients, but microscopic alterations have been...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1618762/full |
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| author | Oscar Campuzano Oscar Campuzano Oscar Campuzano Simone Grassi Estefanía Martínez-Barrios Estefanía Martínez-Barrios Estefanía Martínez-Barrios Andrea Greco Andrea Greco Andrea Greco Vincenzo Arena Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Antonio Oliva |
| author_facet | Oscar Campuzano Oscar Campuzano Oscar Campuzano Simone Grassi Estefanía Martínez-Barrios Estefanía Martínez-Barrios Estefanía Martínez-Barrios Andrea Greco Andrea Greco Andrea Greco Vincenzo Arena Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Antonio Oliva |
| author_sort | Oscar Campuzano |
| collection | DOAJ |
| description | Brugada Syndrome is a cardiac genetic entity associated with an elevated risk of life-threatening arrhythmias, making accurate and prompt diagnosis vital to prevent lethal outcomes. To date, no macroscopic alterations have been identified in diagnosed patients, but microscopic alterations have been reported in some cases, which remain a matter of argue. This is especially relevant in the forensic field, helping to perform a post-mortem diagnose. Molecular autopsy may help to identify the genetic alteration, but other data such as family history and the situation of death are crucial to unravel the definite cause of an unexpected decease. Deleterious variants in the SCN5A gene are the most common cause of Brugada syndrome; however, the genetic diagnostic yield of Brugada Syndrome remains low, with a deleterious variant in SCN5A identified in only a 25%–30% of cases, and a high number of phenotype-positive genotype-negative individuals. This along with a proper clinical-genetic interpretation and the management of variants of unknown clinical significance remains a current challenge. Our review aims to update the available forensic data focused on autopsies performed in Brugada syndrome cases. |
| format | Article |
| id | doaj-art-e90d2d3fc1df45f2a1417326292617ed |
| institution | Kabale University |
| issn | 2297-055X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj-art-e90d2d3fc1df45f2a1417326292617ed2025-08-20T03:59:44ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2025-08-011210.3389/fcvm.2025.16187621618762Brugada syndrome in the forensic field: what do we know to date?Oscar Campuzano0Oscar Campuzano1Oscar Campuzano2Simone Grassi3Estefanía Martínez-Barrios4Estefanía Martínez-Barrios5Estefanía Martínez-Barrios6Andrea Greco7Andrea Greco8Andrea Greco9Vincenzo Arena10Georgia Sarquella-Brugada11Georgia Sarquella-Brugada12Georgia Sarquella-Brugada13Georgia Sarquella-Brugada14Georgia Sarquella-Brugada15Antonio Oliva16Medical Science Department, School of Medicine, University of Girona, Girona, SpainInstitut Investigacions Biomèdiques de Girona, IDIBGI, Girona, SpainCentro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, Madrid, SpainDepartment of Health Sciences, Section of Forensic Medical Sciences, University of Florence, Florence, ItalyPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, SpainArrítmies Pediàtriques, Cardiologia Genètica I Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, SpainEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, NetherlandsPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, SpainArrítmies Pediàtriques, Cardiologia Genètica I Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, SpainEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, NetherlandsArea of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, ItalyMedical Science Department, School of Medicine, University of Girona, Girona, SpainPediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Cardiology Department, Sant Joan de Déu Hospital de Barcelona, Barcelona, SpainArrítmies Pediàtriques, Cardiologia Genètica I Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, SpainEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, NetherlandsPediatrics Department, School of Medicine, Universitat de Barcelona, Barcelona, Spain0Institute of Public Health, Section Legal Medicine, Catholic University, Rome, ItalyBrugada Syndrome is a cardiac genetic entity associated with an elevated risk of life-threatening arrhythmias, making accurate and prompt diagnosis vital to prevent lethal outcomes. To date, no macroscopic alterations have been identified in diagnosed patients, but microscopic alterations have been reported in some cases, which remain a matter of argue. This is especially relevant in the forensic field, helping to perform a post-mortem diagnose. Molecular autopsy may help to identify the genetic alteration, but other data such as family history and the situation of death are crucial to unravel the definite cause of an unexpected decease. Deleterious variants in the SCN5A gene are the most common cause of Brugada syndrome; however, the genetic diagnostic yield of Brugada Syndrome remains low, with a deleterious variant in SCN5A identified in only a 25%–30% of cases, and a high number of phenotype-positive genotype-negative individuals. This along with a proper clinical-genetic interpretation and the management of variants of unknown clinical significance remains a current challenge. Our review aims to update the available forensic data focused on autopsies performed in Brugada syndrome cases.https://www.frontiersin.org/articles/10.3389/fcvm.2025.1618762/fullsudden cardiac deathchannelopathiesBrugada syndromeforensicsmolecular autopsystructural alterations |
| spellingShingle | Oscar Campuzano Oscar Campuzano Oscar Campuzano Simone Grassi Estefanía Martínez-Barrios Estefanía Martínez-Barrios Estefanía Martínez-Barrios Andrea Greco Andrea Greco Andrea Greco Vincenzo Arena Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Georgia Sarquella-Brugada Antonio Oliva Brugada syndrome in the forensic field: what do we know to date? Frontiers in Cardiovascular Medicine sudden cardiac death channelopathies Brugada syndrome forensics molecular autopsy structural alterations |
| title | Brugada syndrome in the forensic field: what do we know to date? |
| title_full | Brugada syndrome in the forensic field: what do we know to date? |
| title_fullStr | Brugada syndrome in the forensic field: what do we know to date? |
| title_full_unstemmed | Brugada syndrome in the forensic field: what do we know to date? |
| title_short | Brugada syndrome in the forensic field: what do we know to date? |
| title_sort | brugada syndrome in the forensic field what do we know to date |
| topic | sudden cardiac death channelopathies Brugada syndrome forensics molecular autopsy structural alterations |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2025.1618762/full |
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