title: Fabry disease with aortic regurgitation.
abstract: 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.
authors.affiliation: Department of Internal Medicine, College of Medicine, Soonchunhyang University, Bucheon, Korea.
authors.forename: Soojeong
authors.initials: S
authors.lastname: Choi
authors.forename: Haesun
authors.initials: H
authors.lastname: Seo
authors.forename: Mooyong
authors.initials: M
authors.lastname: Park
authors.forename: Jinkuk
authors.initials: J
authors.lastname: Kim
authors.forename: Seungduk
authors.initials: S
authors.lastname: Hwang
authors.forename: Kaewon
authors.initials: K
authors.lastname: Kwon
authors.forename: Kyun
authors.initials: K
authors.lastname: Her
authors.forename: Yongsoon
authors.initials: Y
authors.lastname: Won
mesh_terms: D000328:Adult; D001022:Aortic Valve Insufficiency / Q000209:etiology / Q000473:pathology* / Q000601:surgery*; D001705:Bioprosthesis; D001707:Biopsy, Needle; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D005500:Follow-Up Studies; D019918:Heart Valve Prosthesis Implantation / Q000379:methods*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase