These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease.
    Author: Kamougeros A, Shiakos G, Ioannou S, Tzanavaros I, Al-Jazrawi Z, Ioannou B.
    Journal: J Surg Case Rep; 2024 Oct; 2024(10):rjae644. PubMed ID: 39399636.
    Abstract:
    Alkaptonuric ochronosis, characterized by the deposition of homogentisic acid in connective tissues, is commonly linked with alkaptonuria, a rare genetic disorder resulting from homogentisate 1,2-dioxygenase deficiency. Despite its association with alkaptonuria, ochronosis can occur in individuals without a prior diagnosis. This case report discusses a 64-year-old female with severe aortic valve stenosis and coronary artery disease who was found to have ochronotic pigmentation in the aortic and mitral valves, as well as in the aortic root intima and papillary muscles. This case emphasizes the need to consider ochronosis in the differential diagnosis of valvular disease when alkaptonuria is suspected.
    [Abstract] [Full Text] [Related] [New Search]