RT Journal
A1 Stephan MJ, Stevens EL, Jr, Wenstrup RJ, et al
T1 MUcopolysaccharidosis i presenting with endocardial fibroelastosis of infancy
JF American Journal of Diseases of Children
JO American Journal of Diseases of Children
YR 1989
FD July 1
VO 143
IS 7
SP 782
OP 784
DO 10.1001/archpedi.1989.02150190032015
UL http://dx.doi.org/10.1001/archpedi.1989.02150190032015
AB • 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 α-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 α-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)