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Background <p>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.</p> Case presentation <p>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 <i>SCN5A</i> gene.</p> Conclusions <p>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.</p>

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

  • 期刊论文

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  • 发表日期：

    2026年1月26日

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  • Cecilia Salzillo,
  • Nicoletta Resta,
  • Rosanna Bagnulo,
  • Andrea Marzullo

摘要

Background

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.

Case presentation

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.

Conclusions

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.