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

Article Article scientifique Rapport de cas One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus eng 2012 author Shiferaw Kebede 647673 author Lobrinus Alexandre J. author Grabherr Silke 746290 author Michaud Katarzyna author Mangin Patrice 662095 author Schrag Bettina 685500 335-338 10.1097/PAF.0b013e318264e9ef 22835975 0195-7910 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. 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 Dewey 614.1 67 Institut de médecine légale 22A2 false 959 Groupe Silke Grabherr 969 American Journal of Forensic Medicine and Pathology 33 4 79395cec-088c-4273-8ac4-ec497d1ee0e6 Article (Published version) Restricted 00000433-201212000-00014.pdf 1813552 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de santé et médecine communautaires / Institut de médecine légale

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One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus	American Journal of Forensic Medicine and Pathology			2012	349	0

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Shiferaw, Kebede