The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30926473.
- Also identified by DOI 10.1016/j.athoracsur.2019.02.042.
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Abstract
Alkaptonuria is rare genetic disorder of tyrosine metabolism manifesting with signs of tissue pigmentation, dark urine, and ochronotic arthropathies. Commonly undiscovered by late adulthood, alkaptonuria can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies, but rarely coronary artery disease. This case report describes 2 patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open heart surgery.
Medical subject headings
- Alkaptonuria
- Aortic Valve Stenosis
- Coronary Artery Disease
- Ochronosis