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Replacement of the aortic valve in a patient with mucolipidosis III.

作者信息

Cripe Linda H, Ware Stephanie M, Hinton Robert B

机构信息

The Heart Institute, Cincinnati Children's Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio.

出版信息

Cardiol Young. 2009 Dec;19(6):641-3. doi: 10.1017/S1047951109991120. Epub 2009 Sep 24.

DOI:10.1017/S1047951109991120
PMID:19775498
Abstract

We report replacement of the aortic valve in a patient aged 9 years with mucolipidosis III and severe aortic insufficiency. Histopathology demonstrated abnormalities of the matrix and lysosomal inclusion bodies. As life expectancy increases for patients with lysosomal storage disorders, approaches to intervention for valvar disease become increasingly important.

摘要

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