title: A case report of Noonan's syndrome with pulmonary valvar stenosis and coronary aneurysms.
abstract: BACKGROUND
  Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of Noonan syndrome with giant coronary aneurysms.
  
  
  METHODS
  A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.
  
  
  CONCLUSIONS
  These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome.
authors.affiliation: Department of Pathology, Institute of Rheumatology, Warsaw, Poland. edsg2000@yahoo.com
authors.forename: Marios
authors.initials: M
authors.lastname: Loukas
authors.forename: Marek
authors.initials: M
authors.lastname: Dabrowski
authors.forename: Michal
authors.initials: M
authors.lastname: Kantoch
authors.forename: Witold
authors.initials: W
authors.lastname: Ruzyłło
authors.forename: Johannes
authors.initials: J
authors.lastname: Waltenberger
authors.forename: Petros
authors.initials: P
authors.lastname: Giannikopoulos
mesh_terms: D000328:Adult; D003323:Coronary Aneurysm / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D017023:Coronary Angiography; D003331:Coronary Vessels / Q000000981:diagnostic imaging / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006801:Humans; D009206:Myocardium / Q000473:pathology / Q000648:ultrastructure; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011662:Pulmonary Subvalvular Stenosis / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D011664:Pulmonary Valve / Q000000981:diagnostic imaging / Q000473:pathology; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology