Myocardial bridging and de novo SCN5A variant: coincidence or cause in sudden cardiac death in the young?

Sudden cardiac death in the young is a multifactorial condition often linked to undiagnosed genetic or structural causes in life. Myocardial bridge is a congenital malformation of the coronary arteries often underestimated, which can contribute to myocardial ischemia, fatal arrhythmias and sudden death. In this study, we present the case of a 23-year-old man who died suddenly without apparent cause. The autopsy revealed the presence of a complete myocardial bridge of the anterior descending artery and an apical thinning of the left ventricle. Genetic analysis performed post-mortem identified a de novo variant in the SCN5A gene. This case highlights the importance of molecular autopsy and the possible synergistic role between myocardial bridge and genetic in the pathogenesis of sudden cardiac in the young.

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Publication Details

Journal
Egyptian Journal of Forensic Sciences
Published
2026-01-26
DOI
https://doi.org/10.1186/s41935-025-00499-1
Primary Topic
Coronary Artery Anomalies
Type
article
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article

Myocardial bridging and de novo SCN5A variant: coincidence or cause in sudden cardiac death in the young?

Rosanna Bagnulo, A. Marzullo, Cecilia Salzillo, Nicoletta Resta
Egyptian Journal of Forensic Sciences
Coronary Artery Anomalies
article

Myocardial bridging and de novo SCN5A variant: coincidence or cause in sudden cardiac death in the young?

Rosanna Bagnulo, A. Marzullo, Cecilia Salzillo, Nicoletta Resta
article en

Abstract

Sudden cardiac death in the young is a multifactorial condition often linked to undiagnosed genetic or structural causes in life. Myocardial bridge is a congenital malformation of the coronary arteries often underestimated, which can contribute to myocardial ischemia, fatal arrhythmias and sudden death. In this study, we present the case of a 23-year-old man who died suddenly without apparent cause. The autopsy revealed the presence of a complete myocardial bridge of the anterior descending artery and an apical thinning of the left ventricle. Genetic analysis performed post-mortem identified a de novo variant in the SCN5A gene. This case highlights the importance of molecular autopsy and the possible synergistic role between myocardial bridge and genetic in the pathogenesis of sudden cardiac in the young.

Egyptian Journal of Forensic SciencesVol. 16(1)
University of Campania "Luigi Vanvitelli" (IT), University of Bari Aldo Moro (IT)
Good health and well-being
Openalex Percentile: Top 79%
Coronary Artery Anomalies
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