title: Aortic valve disease as a first manifestation of Alcaptonuria in surgically treated patient. Case report.
abstract: BACKGROUND
  Alcaptonuria, a rare metabolic disorder (1:250 000), is usually presented with symptoms such as arthropathies of weight bearing joints.
  
  
  METHODS
  In this case, a 65 year old woman was admitted to our hospital with severe aortic stenosis and no other symptoms that would suggest the existance of Alcaptonuria. Intraoperative findings of black discoloration of the affected valve and ascending aorta, pointed towards the diagnosis of cardiac ochronosis, what was then confirmed by a PH examination.
  
  
  CONCLUSIONS
  This case suggests that although alcaptonuria is a slow progressive disease with cardiac ochronosis as a predictable late complication, it can nevertheless be a first sign. In that case the attention should be brought to the surely affected lumbar spine and weight bearing joints, and other connective tissue.
  
  
  BACKGROUND
  Alcaptonuria, Aortic valve, Cardiac ochronosis, Surgery.
authors.forename: Mile
authors.initials: M
authors.lastname: Vranes
authors.forename: Ilija
authors.initials: I
authors.lastname: Bilbija
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Mikic
authors.forename: Natasa
authors.initials: N
authors.lastname: Kovacevic-Kostic
authors.forename: Radmila
authors.initials: R
authors.lastname: Karan
authors.forename: Dejan
authors.initials: D
authors.lastname: Nikolic
authors.forename: Biljana
authors.initials: B
authors.lastname: Obrenovic-Kircanski
authors.forename: Milos
authors.initials: M
authors.lastname: Velinovic
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000150:complications* / Q000235:genetics; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000601:surgery*; D005260:Female; D006801:Humans; D009794:Ochronosis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000601:surgery*; D016896:Treatment Outcome