Fabry Disease With Aortic Regurgitation

被引：7
作者：
Choi, Soojeong
Seo, Haesun
Park, Mooyong
Kim, Jinkuk
Hwang, Seungduk
Kwon, Kaewon
Her, Kyun
Won, Yongsoon
机构：
[1] Soonchunhyang Univ, Coll Med, Dept Internal Med, Puchon, South Korea
[2] Soonchunhyang Univ, Coll Med, Dept Pathol, Puchon, South Korea
[3] Soonchunhyang Univ, Coll Med, Dept Thorac & Cardiovasc Surg, Puchon, South Korea
来源：
ANNALS OF THORACIC SURGERY | 2009年 / 87卷 / 02期
关键词：
ENZYME REPLACEMENT THERAPY; EFFICACY; SAFETY;
D O I：
10.1016/j.athoracsur.2008.06.023
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：625 / 628
页数：5
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