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Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings
Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156818/ https://www.ncbi.nlm.nih.gov/pubmed/34067575 http://dx.doi.org/10.3390/diagnostics11050886 |
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author | Grassi, Simone Vidal, Mònica Coll Campuzano, Oscar Arena, Vincenzo Alfonsetti, Alessandro Rossi, Sabina Strano Scarnicci, Francesca Iglesias, Anna Brugada, Ramon Oliva, Antonio |
author_facet | Grassi, Simone Vidal, Mònica Coll Campuzano, Oscar Arena, Vincenzo Alfonsetti, Alessandro Rossi, Sabina Strano Scarnicci, Francesca Iglesias, Anna Brugada, Ramon Oliva, Antonio |
author_sort | Grassi, Simone |
collection | PubMed |
description | Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case of a 20-year-old man who suddenly died after reportedly having smoked cannabis. Autopsy, toxicology, and genetic testing were performed. Autopsy found a long and thick myocardial bridging (MB) at 2 cm from the beginning of the left anterior descending coronary artery. Furthermore, at the histopathological examination, fibrosis and disarray in myocardial area above the MB, fatty tissue in the right ventricle and fibrosis of the sino-atrial node area were found. Toxicology testing was inconclusive, while genetic testing found a rare missense variant of the TTN gene, classified as likely benign, and a variant of unknown significance in the SLMAP gene (a gene that can be associated with BrS). Hence, despite several atypical features were found, no inference on the cause of the death could be made under current evidence. |
format | Online Article Text |
id | pubmed-8156818 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-81568182021-05-28 Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings Grassi, Simone Vidal, Mònica Coll Campuzano, Oscar Arena, Vincenzo Alfonsetti, Alessandro Rossi, Sabina Strano Scarnicci, Francesca Iglesias, Anna Brugada, Ramon Oliva, Antonio Diagnostics (Basel) Case Report Sudden death (SD) is defined as the unexpected natural death occurred within an hour after the onset of symptoms or from the last moment the subject has been seen in a healthy condition. Brugada syndrome (BrS) is one of the most remarkable cardiac causes of SD among young people. We report the case of a 20-year-old man who suddenly died after reportedly having smoked cannabis. Autopsy, toxicology, and genetic testing were performed. Autopsy found a long and thick myocardial bridging (MB) at 2 cm from the beginning of the left anterior descending coronary artery. Furthermore, at the histopathological examination, fibrosis and disarray in myocardial area above the MB, fatty tissue in the right ventricle and fibrosis of the sino-atrial node area were found. Toxicology testing was inconclusive, while genetic testing found a rare missense variant of the TTN gene, classified as likely benign, and a variant of unknown significance in the SLMAP gene (a gene that can be associated with BrS). Hence, despite several atypical features were found, no inference on the cause of the death could be made under current evidence. MDPI 2021-05-17 /pmc/articles/PMC8156818/ /pubmed/34067575 http://dx.doi.org/10.3390/diagnostics11050886 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Grassi, Simone Vidal, Mònica Coll Campuzano, Oscar Arena, Vincenzo Alfonsetti, Alessandro Rossi, Sabina Strano Scarnicci, Francesca Iglesias, Anna Brugada, Ramon Oliva, Antonio Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title | Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title_full | Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title_fullStr | Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title_full_unstemmed | Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title_short | Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings |
title_sort | sudden death without a clear cause after comprehensive investigation: an example of forensic approach to atypical/uncertain findings |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156818/ https://www.ncbi.nlm.nih.gov/pubmed/34067575 http://dx.doi.org/10.3390/diagnostics11050886 |
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