BMJ Case Reports 2011; doi:10.1136/bcr.04.2011.4119
  • Rare disease

Aortic valve ochronosis: a rare manifestation of alkaptonuria

  1. Christina Maria Steger
  1. Pathology Department, Innsbruck Medical University, Innsbruck, Austria
  1. Correspondence to Professor Christina Maria Steger, Christina.M.Steger{at}


Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta.

A 65-year-old woman with alkaptonuric ochronosis and a history of four joint replacements required aortic valve replacement for severe aortic stenosis. Operative findings included ochronosis of a partly calcified aortic valve and the aortic intima. The aortic valve was removed at surgery and histologically investigated. Light microscopic examination of the aortic valve revealed intracellular and extracellular deposits of ochronotic pigment and a chronic inflammatory infiltrate.

Beside the case representation, the disease history, aetiology, pathogenesis, clinical presentation and treatment of aortic valve ochronosis are reviewed.


  • Competing interests None.

  • Patient consent Obtained.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article