Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome
Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a high...
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| Format: | Article |
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/19/11666 |
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| author | Simone Grassi Oscar Campuzano Mònica Coll Francesca Cazzato Anna Iglesias Francesco Ausania Francesca Scarnicci Georgia Sarquella-Brugada Josep Brugada Vincenzo Arena Antonio Oliva Ramon Brugada |
| author_facet | Simone Grassi Oscar Campuzano Mònica Coll Francesca Cazzato Anna Iglesias Francesco Ausania Francesca Scarnicci Georgia Sarquella-Brugada Josep Brugada Vincenzo Arena Antonio Oliva Ramon Brugada |
| author_sort | Simone Grassi |
| collection | DOAJ |
| description | Sudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the <i>KCNQ1</i> gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the <i>KNCQ1</i> variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease. |
| first_indexed | 2024-03-09T21:38:40Z |
| format | Article |
| id | doaj.art-db69fd7c8f7b48559698a42f22c1459b |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T21:38:40Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-db69fd7c8f7b48559698a42f22c1459b2023-11-23T20:37:08ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123191166610.3390/ijms231911666Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT SyndromeSimone Grassi0Oscar Campuzano1Mònica Coll2Francesca Cazzato3Anna Iglesias4Francesco Ausania5Francesca Scarnicci6Georgia Sarquella-Brugada7Josep Brugada8Vincenzo Arena9Antonio Oliva10Ramon Brugada11Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, SpainCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, SpainDepartment of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, SpainDepartment of Diagnostics and Public Health, Section of Forensic Medicine, University of Verona, 37122 Verona, ItalyDepartment of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyMedical Science Department, School of Medicine, University of Girona, 17003 Girona, SpainCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, SpainArea of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00147 Rome, ItalyDepartment of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, ItalyCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, SpainSudden death is defined as the unexpected death of a healthy person that occurs within the first hour of the onset of symptoms or within 24 h of the victim being last seen alive. In some of these cases, rare deleterious variants of genes associated with inherited cardiac disorders can provide a highly probable explanation for the fatal event. We report the case of a 21-year-old obese woman who lost consciousness suddenly in a public place and was pronounced dead after hospital admission. Clinical autopsy showed an inconclusive gross examination, while in the histopathological analysis an eosinophilic inflammatory focus and interstitial fibrosis in the sino-atrial node were found. Molecular autopsy revealed an intronic variant in the <i>KCNQ1</i> gene (c.683 + 5G > A), classified as likely pathogenic for long QT syndrome according to the guidelines provided by the American College of Medical Genetics and Genomics. Therefore, there were many anomalies that could have played a role in the causation of the sudden death, such as the extreme obesity, the cardiac anomalies and the <i>KNCQ1</i> variant. This case depicts the difficult interpretation of rare cardiac structural abnormalities in subjects carrying rare variants responsible for inherited arrhythmic disorders and the challenge for the forensic pathologist to make causal inferences in the determinism of the unexpected decease.https://www.mdpi.com/1422-0067/23/19/11666sudden cardiac deathforensic autopsypost-mortem genetic testingeosinophilic inflammatory focussino-atrial node |
| spellingShingle | Simone Grassi Oscar Campuzano Mònica Coll Francesca Cazzato Anna Iglesias Francesco Ausania Francesca Scarnicci Georgia Sarquella-Brugada Josep Brugada Vincenzo Arena Antonio Oliva Ramon Brugada Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome International Journal of Molecular Sciences sudden cardiac death forensic autopsy post-mortem genetic testing eosinophilic inflammatory focus sino-atrial node |
| title | Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome |
| title_full | Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome |
| title_fullStr | Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome |
| title_full_unstemmed | Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome |
| title_short | Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome |
| title_sort | eosinophilic infiltration of the sino atrial node in sudden cardiac death caused by long qt syndrome |
| topic | sudden cardiac death forensic autopsy post-mortem genetic testing eosinophilic inflammatory focus sino-atrial node |
| url | https://www.mdpi.com/1422-0067/23/19/11666 |
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