title: One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus.
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.
authors: University Centre of Legal Medicine, Lausanne, Switzerland. shif.keb@bluewin.ch
authors: Kebede
authors: K
authors: Shiferaw
authors: Alexandre J
authors: AJ
authors: Lobrinus
authors: Silke
authors: S
authors: Grabherr
authors: Katarzyna
authors: K
authors: Michaud
authors: Patrice
authors: P
authors: Mangin
authors: Bettina
authors: B
authors: Schrag
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology; D001994:Bronchogenic Cyst / Q000473:pathology*; D003645:Death, Sudden / Q000209:etiology*; D004938:Esophageal Neoplasms / Q000473:pathology*; D005355:Fibrosis; D049429:Forensic Pathology; D016586:Granular Cell Tumor / Q000473:pathology*; D006323:Heart Arrest / Q000209:etiology; D006352:Heart Ventricles / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010496:Pericardium / Q000473:pathology
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human