Cripe Linda H, Ware Stephanie M, Hinton Robert B
The Heart Institute, Cincinnati Children's Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio.
Cardiol Young. 2009 Dec;19(6):641-3. doi: 10.1017/S1047951109991120. Epub 2009 Sep 24.
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.