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Updated: Nov 1, 2025

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Tale of a Black Heart!
Anjali Sharma1, Andrea Alvarez2, Tamim Nazif1
1Division of Cardiology, Columbia University College of Physicians and Surgeons, New York, New York.
The Annals of Thoracic Surgery
|June 20, 2021
Summary
Alkaptonuria, a rare metabolic disorder, is infrequently diagnosed during aortic valve replacement surgery. Early recognition is crucial for managing patient care and understanding prosthetic valve durability in these unique cases.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Cardiology
Background:
- Alkaptonuria is an inherited metabolic disease.
- Aortic stenosis is a known complication.
- Diagnosis during valve replacement is rare.
Observation:
- A case report details a patient diagnosed with Alkaptonuria during aortic valve replacement.
- This highlights the infrequent diagnosis of this condition at the time of surgery.
Findings:
- The association between Alkaptonuria and aortic stenosis is documented.
- The study emphasizes the rarity of diagnosing Alkaptonuria during aortic valve replacement.
Implications:
- Recognizing Alkaptonuria has potential management implications.
- The durability of prosthetic valves in patients with Alkaptonuria is currently unknown.
- Further research is needed to guide treatment and prosthetic valve selection.
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