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Ann Thorac Surg 2009;87:625-628. doi:10.1016/j.athoracsur.2008.06.023
© 2009 The Society of Thoracic Surgeons
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Right arrow Valve disease

Case Reports

Fabry Disease With Aortic Regurgitation

Soojeong Choi, MDa, Haesun Seo, MDa, Mooyong Park, MDa, Jinkuk Kim, MDa, Seungduk Hwang, MDa,*, Kaewon Kwon, MDb, Kyun Her, MDc, Yongsoon Won, MDc

a Department of Internal Medicine, Soonchunhyang University, Bucheon, Korea
b Department of Pathology, Soonchunhyang University, Bucheon, Korea
c Department of Thoracic and Cardiovascular Surgery, College of Medicine, Soonchunhyang University, Bucheon, Korea

Accepted for publication June 11, 2008.

* Address correspondence to Dr Hwang, Division of Nephrology, Department of Internal Medicine, Soonchunhyang University Bucheon Hospital, 1174 Jung-dong, Wonmi-Gu, Bucheon-Si, 420-767, South Korea (Email: sd7hwang{at}schbc.ac.kr).

Aortic regurgitation is not so rare in patients with Fabry disease. Enzyme replacement therapy has become the standard medical care for Fabry disease in recent years. A 31-year-old man with Fabry disease, treated with recombinant {alpha}-galactosidase enzyme replacement for 19 months was admitted for evaluation of exertional dyspnea. Cardiac workup revealed left ventricular hypertrophy, increased left ventricular size, and moderate to severe aortic regurgitation. He underwent mechanical valvular replacement and heart biopsy. Histology of his aortic valve showed myxoid degeneration of valve leaflets. His heart muscle revealed extensive hypertrophy with vacuolization and the absence of lamellar bodies. We report a case of Fabry disease with aortic regurgitation in a man who underwent valvular replacement operation during enzyme replacement therapy.




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