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Case Report

Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings

1
Section of Legal Medicine, Department of Health Surveillance and Bioethics, Catholic University of the Sacred Heart, 00168 Rome, Italy
2
Cardiovascular Genetics Center, University of Girona-IDIBGI, 17290 Salt, Girona, Spain
3
Institute of Anatomical Pathology, Department of Woman and Child Health and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy
*
Author to whom correspondence should be addressed.
These authors equally contributed and thus should be considered co-first authors.
These authors equally contributed and thus should be considered co-senior authors.
Diagnostics 2021, 11(5), 886; https://doi.org/10.3390/diagnostics11050886
Submission received: 21 April 2021 / Revised: 11 May 2021 / Accepted: 12 May 2021 / Published: 17 May 2021
(This article belongs to the Section Pathology and Molecular Diagnostics)

Abstract

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.
Keywords: Brugada syndrome; TTN gene; SLMAP gene; fatty infiltration right ventricle; sino-atrial node fibrosis; myocardial bridging; sudden death; cannabis; forensic pathology; molecular autopsy Brugada syndrome; TTN gene; SLMAP gene; fatty infiltration right ventricle; sino-atrial node fibrosis; myocardial bridging; sudden death; cannabis; forensic pathology; molecular autopsy

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MDPI and ACS Style

Grassi, S.; Vidal, M.C.; Campuzano, O.; Arena, V.; Alfonsetti, A.; Rossi, S.S.; Scarnicci, F.; Iglesias, A.; Brugada, R.; Oliva, A. Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. Diagnostics 2021, 11, 886. https://doi.org/10.3390/diagnostics11050886

AMA Style

Grassi S, Vidal MC, Campuzano O, Arena V, Alfonsetti A, Rossi SS, Scarnicci F, Iglesias A, Brugada R, Oliva A. Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. Diagnostics. 2021; 11(5):886. https://doi.org/10.3390/diagnostics11050886

Chicago/Turabian Style

Grassi, Simone, Mònica Coll Vidal, Oscar Campuzano, Vincenzo Arena, Alessandro Alfonsetti, Sabina Strano Rossi, Francesca Scarnicci, Anna Iglesias, Ramon Brugada, and Antonio Oliva. 2021. "Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings" Diagnostics 11, no. 5: 886. https://doi.org/10.3390/diagnostics11050886

APA Style

Grassi, S., Vidal, M. C., Campuzano, O., Arena, V., Alfonsetti, A., Rossi, S. S., Scarnicci, F., Iglesias, A., Brugada, R., & Oliva, A. (2021). Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. Diagnostics, 11(5), 886. https://doi.org/10.3390/diagnostics11050886

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