期刊
PEDIATRIC CARDIOLOGY
卷 34, 期 8, 页码 2077-2079出版社
SPRINGER
DOI: 10.1007/s00246-013-0653-0
关键词
Aortic valve replacement; Enzyme replacement therapy; Glycosaminoglycan; Hunter syndrome; Mucopolysaccharidosis
This report describes the pathologic findings for a patient with Hunter syndrome who underwent aortic valve replacement at 10 years of age, 3 years after the initiation of enzyme replacement therapy. Aortic valve pathology showed mild thickening and fibrosis as well as massive glycosaminoglycan accumulation. This suggests that enzyme replacement therapy has limited efficacy for cardiac valve disease both clinically and pathologically.
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