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Mucopolysaccharidosis I Presenting With Endocardial Fibroelastosis of Infancy
Mark J. Stephan, MD;
CPT Edward L. Stevens, Jr, MC;
Richard J. Wenstrup, MD;
Cheryl R. Greenberg, MD;
Hilda L. Gritter, MD;
CPT George F. Hodges, MC;
LTC Barbara Guller, MC
Am J Dis Child. 1989;143(7):782-784.
Abstract
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• We describe two female infants with Hurler syndrome (mucopolysaccharidosis I) whose deaths are attributed to cardiac failure with associated, autopsy-confirmed endocardial fibroelastosis. One infant had confirmed  -L-iduronidase deficiency in cultured dermal fibroblasts, and the other infant had histologic evidence of tissue mucopolysaccharide accumulation at autopsy and a sibling with confirmed -L-iduronidase deficiency and the Hurler syndrome phenotype. Clear cells ("Hurler" cells) were identified within the myocardium and endocardium of both infants. We propose that the ventricular mural accumulation of mucopolysaccharides induced extensive proliferation of elastic or collagen fibers within the endocardium. Cardiac failure may precede recognition of clinical and roentgenographic features of Hurler syndrome. Our findings and a literature review suggest that certain heritable storage disorders, including mucopolysaccharidosis I, should be considered when infants have clinical electrocardiographic and echocardiographic findings consistent with endocardial fibroelastosis or have autopsy-documented endocardial fibroelastosis.
(AJDC. 1989;143:782-784)
Author Affiliations
USA; USA; USA
From the Departments of Pediatrics (Drs Stephan, Stevens, and Guller) and Pathology (Dr Hodges), Madigan Army Medical Center, Tacoma, Wash; the Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle (Dr Wenstrup); and the Departments of Pediatrics (Dr Greenberg) and Pathology (Dr Gritter), Children's Hospital, Winnipeg, Canada. Dr Wenstrup is now with the Division of Pediatric Cardiology, Duke University Medical Center, Durham, NC.
Footnotes
Accepted for publication January 30, 1989.
The opinions and assertions contained herein are the views of the authors and are not to be construed as official or as reflecting the views of the US Department of the Army or the Department of Defense.
Reprint requests to Dysmorphology Unit, Department of Pediatrics, Madigan Army Medical Center, Tacoma, WA 98431 (Dr Stephan).
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