Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis

Semin Cardiothorac Vasc Anesth. 2017 Dec;21(4):364-366. doi: 10.1177/1089253217720284. Epub 2017 Jul 14.

Abstract

Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. She underwent an uneventful aortic valve replacement. She was discharged home 10 days postoperatively.

Keywords: alkaptonuria; aortic valve; ochronosis.

Publication types

  • Case Reports

MeSH terms

  • Alkaptonuria / complications*
  • Aortic Valve / diagnostic imaging
  • Aortic Valve / surgery*
  • Aortic Valve Stenosis / diagnostic imaging
  • Aortic Valve Stenosis / etiology*
  • Aortic Valve Stenosis / surgery*
  • Echocardiography / methods
  • Female
  • Heart Valve Prosthesis Implantation / methods*
  • Humans
  • Middle Aged
  • Ochronosis / complications*

Supplementary concepts

  • Alkaptonuric ochronosis