Aortic valve stenosis in alkaptonuric ochronosis.
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 has cardiac ochronosis, and has several family members diagnosed with ochronosis and aortic valve stenosis.
Cercek
Miha
M
Medical Centre Ljubljana, Department of Cardiovascular Diseases, Slovenia.
Prokselj
Katja
K
Kozelj
Mirta
M
D000368:Aged; D000474:Alkaptonuria / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001024:Aortic Valve Stenosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009794:Ochronosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014443:Tyrosine / Q000235:genetics / Q000378:metabolism
D014443:Tyrosine