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The black root: Aortic valve sparing in alkaptonuria
Giulio Folino1, Raffaele Scaffa2,3, Andrea Salica2
1Department of Cardio-Thoracic and Vascular Sciences, University of Padua, Padua, Italy.
Journal of Cardiac Surgery
|February 13, 2022
Summary
This case study details a rare instance of aortic valve repair in a patient with alkaptonuria, a condition typically requiring valve replacement. Homogentisic acid deposition caused discoloration but the valve remained repairable.
Area of Science:
- Cardiovascular Medicine
- Medical Genetics
- Biochemistry
Background:
- Alkaptonuria (AKU) is a rare inherited metabolic disorder characterized by the deficiency of homogentisate 1,2-dioxygenase.
- This deficiency leads to the accumulation of homogentisic acid (HGA), causing ochronosis and progressive damage to connective tissues, including the cardiovascular system.
- AKU is classically associated with aortic valve stenosis and the need for aortic valve replacement.
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