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Updated: Jun 26, 2026
08:12
Surgically Induced Cardiac Volume Overload by Aortic Regurgitation in Mouse
Published on: August 30, 2022
Fabry disease with aortic regurgitation.
Soojeong Choi1, Haesun Seo, Mooyong Park
1Department of Internal Medicine, College of Medicine, Soonchunhyang University, Bucheon, Korea.
The Annals of Thoracic Surgery
|January 24, 2009
Summary
Fabry disease patients on enzyme replacement therapy can still develop severe aortic regurgitation, necessitating valve replacement surgery. This case highlights the ongoing cardiac risks despite treatment.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease is a rare genetic disorder.
- Aortic regurgitation is a known complication of Fabry disease.
- Enzyme replacement therapy (ERT) is the standard treatment for Fabry disease.
Observation:
- A 31-year-old male with Fabry disease on ERT presented with exertional dyspnea.
- Cardiac evaluation revealed left ventricular hypertrophy and moderate to severe aortic regurgitation.
- The patient underwent aortic valve replacement and heart biopsy.
Findings:
- Histology of the aortic valve showed myxoid degeneration.
- Heart muscle biopsy revealed hypertrophy, vacuolization, and absence of lamellar bodies.
- The patient's aortic regurgitation progressed despite 19 months of ERT.
Implications:
- This case underscores the potential for significant cardiac complications, including aortic regurgitation, in Fabry disease patients even with ERT.
- Mechanical valve replacement may be required for severe aortic regurgitation in these patients.
- Further research is needed to understand the long-term cardiac outcomes and optimal management strategies for Fabry disease patients on ERT.
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