Fabry disease with aortic regurgitation.
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.
Choi
Soojeong
S
Department of Internal Medicine, College of Medicine, Soonchunhyang University, Bucheon, Korea.
Seo
Haesun
H
Park
Mooyong
M
Kim
Jinkuk
J
Hwang
Seungduk
S
Kwon
Kaewon
K
Her
Kyun
K
Won
Yongsoon
Y
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
D000519:alpha-Galactosidase