title: [Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].
abstract: Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.
authors.affiliation: University of Oxford Centre for Clinical Magnetic Resonance Research, University of Department of Cardiovascular Medicine, John Radcliffe Hospital, Oxford OX39DU, UK. Steffen.petersen@gmx.de
authors.forename: S E
authors.initials: SE
authors.lastname: Petersen
authors.forename: O K
authors.initials: OK
authors.lastname: Mohrs
authors.forename: U
authors.initials: U
authors.lastname: Theile
authors.forename: W
authors.initials: W
authors.lastname: Pohlmann
authors.forename: T
authors.initials: T
authors.lastname: Voigtländer
mesh_terms: D000328:Adult; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000000981:diagnostic imaging; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006349:Heart Valve Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography