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Aortic stenosis in cardiovascular ochronosis
  1. L V Ffolkes1,
  2. D Brull2,
  3. S Krywawych3,
  4. M Hayward4,
  5. S E Hughes5
  1. 1Department of Histopathology, University College London Hospitals NHS Trust, London, UK
  2. 2Department of Cardiology, The Whittington Hospital NHS Trust, London
  3. 3Department of Chemical Pathology, Great Ormond Street Hospital, London
  4. 4Department of Cardiothoracic Surgery, University College London Hospitals NHS Trust, London, UK
  5. 5Department of Histopathology, Royal Free and University College Medical School, University College London Hospitals NHS Trust, London, UK
  1. Correspondence to:
    S E Hughes
    Department of Histopathology, Royal Free and University College Medical School, UCL Hospitals NHS Trust, London, UK; sian.hughes{at}ucl.ac.uk

Abstract

Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.

  • LAD, left anterior descending artery

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Footnotes

  • Competing interests: None declared.

  • Patient consent has been obtained for the publication of this article.

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