Zimmermann B, Lally E V, Sharma S C, Schoen F J, Kaplan S R
Department of Medicine (Divisions of Rheumatology and Cardiology), Roger Williams General Hospital, Providence, RI 02908.
Clin Cardiol. 1988 Oct;11(10):723-5. doi: 10.1002/clc.4960111014.
Cardiac manifestations of the mucopolysaccharidoses often include valvular regurgitation, but stenotic lesions are quite rare. This report describes a 30-year-old man with mucopolysaccharidosis type II (Hunter's syndrome) and systemic lupus erythematosus who developed severe progressive aortic stenosis and died. Autopsy examination revealed evidence of various cardiac mucopolysaccharide disease including valvular leaflets thickened and distorted with fibrocalcific nodules. A brief review of previously reported valvular disease in Hunter's syndrome and other mucopolysaccharidoses is presented. This is also the first report of a patient with both systemic lupus and a mucopolysaccharidosis.