title: Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection.
abstract: We report on a patient with familial bicuspid aortic valve disease operated on for proximal aortic aneurysm. The surgery was complicated by intraoperative aortic dissection. Multi-generational genetic analysis demonstrated a mutation in the transforming growth factor-beta receptor type II gene. This case confirms the clinical hypothesis that the proximal aortic disease has a genetic origin in some bicuspid aortic valve patients.
authors.affiliation: Department of Cardiac Surgery, Heart Center, Zentralklinik Bad Berka, Bad Berka, Germany. egirdauskas@web.de
authors.forename: Evaldas
authors.initials: E
authors.lastname: Girdauskas
authors.forename: Solveig
authors.initials: S
authors.lastname: Schulz
authors.forename: Michael A
authors.initials: MA
authors.lastname: Borger
authors.forename: Marco
authors.initials: M
authors.lastname: Mierzwa
authors.forename: Thomas
authors.initials: T
authors.lastname: Kuntze
mesh_terms: D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D001021:Aortic Valve / Q000002:abnormalities*; D017558:Elective Surgical Procedures / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006349:Heart Valve Diseases / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D033162:Incidental Findings; D007431:Intraoperative Complications / Q000175:diagnosis / Q000601:surgery*; D008875:Middle Aged; D008943:Mitral Valve; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D011859:Radiography; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D018570:Risk Assessment; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures / Q000379:methods
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II