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Ochronosis of the aortic valve and aorta

Miljenko Kovacevic1, Ognjen Simic, Igor Medved

  • 1Department of Cardiac Surgery, University Hospital Rijeka, Croatia. m.kovacevic@inet.hr

The Journal of Heart Valve Disease
|October 19, 2006
PubMed

Insights

Alkaptonuria, a rare genetic disorder, was diagnosed in a patient undergoing surgery for severe aortic stenosis. The condition caused ochronotic pigmentation and calcification of the aortic valve.

Area of Science:

  • Cardiovascular Medicine
  • Medical Genetics
  • Biochemistry

Background:

  • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
  • Characterized by deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD).
  • Leads to accumulation of homogentisic acid (HGA) in the body, causing ochronosis and tissue damage.

Observation:

  • A 64-year-old male patient presented with severe aortic stenosis and ischemic heart disease.
  • The patient had undiagnosed alkaptonuria.
  • Intraoperative findings during aortic valve replacement revealed typical ochronotic pigmentation and severe calcification of the aortic valve and aortic intima.

Findings:

  • Diagnosis of alkaptonuria confirmed by urinary homogentisic acid detection.
  • Histopathological analysis corroborated the diagnosis.
  • The patient underwent successful aortic valve replacement and coronary artery bypass grafting.

Implications:

  • Highlights the importance of recognizing rare metabolic disorders in cardiovascular disease management.
  • Undiagnosed alkaptonuria can lead to severe, premature calcific aortic valve disease.
  • Early diagnosis and management of AKU may prevent or delay cardiovascular complications.

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