PMID: 2500843Jul 1, 1989Paper

Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy

American Journal of Diseases of Children
M J StephanB Guller

Abstract

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 alpha-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 alpha-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.

Citations

Jan 6, 2004·Proceedings of the National Academy of Sciences of the United States of America·A J T SchuldtJ E Barker
Feb 11, 2014·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Elizabeth BraunlinJ Carlos Manivel
Aug 31, 2014·Atlas of the Oral and Maxillofacial Surgery Clinics of North America·Victor Nannini
Nov 18, 1997·Forensic Science International : Synergy·W GrellnerG Sticht
Nov 1, 1992·Journal of Clinical Pathology·D J Farrell, J R Skinner
Sep 1, 2012·Herz·E C Wicks, P M Elliott
Jan 4, 2008·Pediatric Radiology·Enno StranzingerRamiro J Hernandez
Jan 7, 2000·The American Journal of Forensic Medicine and Pathology·E A De Letter, M H Piette

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