Familial ochronosis

Eur Heart J. 1995 Feb;16(2):285-6. doi: 10.1093/oxfordjournals.eurheartj.a060899.

Abstract

We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aortic Valve Stenosis / complications
  • Aortic Valve Stenosis / surgery
  • Female
  • Humans
  • Ochronosis / complications
  • Ochronosis / genetics*
  • Pedigree