One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus

Am J Forensic Med Pathol. 2012 Dec;33(4):335-8. doi: 10.1097/PAF.0b013e318264e9ef.

Abstract

We describe the sudden death of a 42-year-old white man. The decedent was a healthy young man with a short clinical history of chest pain, fatigue, dizziness, and pyrosis. Two weeks before his death, he underwent medical evaluation for the aforementioned symptoms. Electrocardiogram, chest x-ray, and serum troponin were all within normal limits. Gastroesophageal reflux disease was suspected, and the decedent was treated with omeprazole. Medicolegal autopsy disclosed an incidental intramyocardial bronchogenic cyst and p.H558R variant of the SCN5A gene. The cyst was located between the epicardium and myocardium of the posterior face of the left superior ventricular wall, adjacent to the base of the heart. An incidental granular cell tumor of the esophagus was also identified, which was likely unrelated to death.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / etiology
  • Bronchogenic Cyst / pathology*
  • Death, Sudden / etiology*
  • Esophageal Neoplasms / pathology*
  • Fibrosis
  • Forensic Pathology
  • Granular Cell Tumor / pathology*
  • Heart Arrest / etiology
  • Heart Ventricles / pathology
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Myocardium / pathology
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Pericardium / pathology

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human