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A Calcium Phosphate-Induced Mouse Abdominal Aortic Aneurysm Model
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Published on: November 18, 2022

Alkaptonuria-associated aortic stenosis.

Zoe S Y Lok1, Jacob Goldstein, Julian A Smith

  • 1Department of Cardiothoracic Surgery, Monash Health, Clayton, Victoria, Australia.

Journal of Cardiac Surgery
|July 25, 2013
PubMed
Summary
This summary is machine-generated.

Alkaptonuria, a metabolic disorder, can cause serious heart complications like aortic stenosis. Successful aortic valve replacement is a viable treatment for these rare, severe cases.

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Related Experiment Videos

Last Updated: May 9, 2026

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Area of Science:

  • Biochemistry
  • Genetics
  • Cardiology

Background:

  • Alkaptonuria is an autosomal recessive metabolic disorder.
  • It involves the accumulation of homogentisic acid due to tyrosine metabolism defects.
  • Cardiovascular complications, though rare, are significant in alkaptonuria.

Observation:

  • Two patients with alkaptonuria-associated aortic stenosis were identified.
  • Both patients presented with severe aortic stenosis requiring intervention.

Findings:

  • Successful aortic valve replacement was performed in both patients.
  • The literature review supports surgical intervention for this rare complication.

Implications:

  • Aortic valve replacement is an effective treatment for alkaptonuria-associated aortic stenosis.
  • Early recognition and management of cardiovascular complications are crucial for patients with alkaptonuria.