engleski

The dark side of the heart: cardiovascular manifestation of ochronosis

Alkaptonuria is rare genetic disorder of tyrosine metabolism presenting with signs of tissue pigmentation, dark urine and ochronotic arthropathies. Commonly undiscovered by late adulthood it can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies but rarely coronary artery disease. We present two patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open-heart surgery.

alkaptonuria ; aortic stenosis ; coronary artery disease

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