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.
- Aortic valve
- Cardiac surgery
- Metabolic disease
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Cardiology and Cardiovascular Medicine