Replacement of the aortic valve in a patient with mucolipidosis III.
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.
The Heart Institute, Cincinnati Children's Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio.
Linda H
LH
Cripe
Stephanie M
SM
Ware
Robert B
RB
Hinton
D001022:Aortic Valve Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D006328:Cardiac Catheterization; D002648:Child; D017023:Coronary Angiography; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006350:Heart Valve Prosthesis; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D009081:Mucolipidoses / Q000150:complications*