Severe aortic stenosis with alkaptonuria: a case report
- Ahmet Arnaz,
- Vusal MAHMUDOV,
- abdullah dogan,
- Dilek ALTUN
Ahmet Arnaz
Saint Francis Hospital The Heart Center Department of Cardiovascular Surgery
Author ProfileAbstract
Alkaptonuria, a rare metabolic disease, is caused by a genetic
deficiency of the homogentisic acid oxidase enzyme involved in
phenylalanine and tyrosine metabolism. Ochronotic arthropathy and
cardiovascular involvement, which manifests itself in 4-6 decades as a
result of homogentisic acid accumulation in cartilage and connective
tissue, are the most important causes of mortality and morbidity. We
present a 75-year-old case with a diagnosis of severe aortic stenosis
who was diagnosed with alkaptonuria after the operation. Severe
calcification and pigmentation were observed in the patient's aortic
valve leaflets and at the ascending aortic wall