Aortic Valve Stenosis in Alkaptonuric Ochronosis
Miha Cercek MD, Katja Prokselj MD, Mirta Kozelj MD

Alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes. The most common clinical manifestation of ochronosis is arthropathy. Heart valves may also be affected, though cardiac involvement is rare. The present patient had cardiac ochronosis, and several of her family members were diagnosed with ochronosis and aortic valve stenosis.