Hostname: page-component-7c8c6479df-8mjnm Total loading time: 0 Render date: 2024-03-28T14:24:28.267Z Has data issue: false hasContentIssue false

Replacement of the Aortic Valve in a Patient with Mucolipidosis III

Published online by Cambridge University Press:  24 September 2009

Linda H. Cripe*
Affiliation:
The Heart Institute, Cincinnati Children’s Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio
Stephanie M. Ware
Affiliation:
The Heart Institute, Cincinnati Children’s Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio
Robert B. Hinton
Affiliation:
The Heart Institute, Cincinnati Children’s Hospital Medical Center and The University of Cincinnati College of Medicine, Cincinnati, Ohio
*
Correspondence to: Linda H. Cripe, MD, Division of Pediatric Cardiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039. Phone: 513-636-5476; Fax: 513-636-1875; E-mail: L.Cripe@CCHMC.org

Abstract

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.

Type
Brief Reports
Copyright
Copyright © Cambridge University Press 2009

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1.Maroteaux, P, Lamy, M. [Hurler’s pseudo-polydystrophy]. Presse Med 1966; 74: 28892892.Google ScholarPubMed
2.Hasilik, A, Waheed, A, von Figura, K. Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in I-cell fibroblasts. Biochem Biophys Res Commun 1981; 98: 761767.CrossRefGoogle ScholarPubMed
3.Dangel, JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998; 157: 534538.CrossRefGoogle ScholarPubMed
4.Tan, CT, Schaff, HV, Miller, FA Jr, Edwards, WD, Karnes, PS. Valvular heart disease in four patients with Maroteaux-Lamy syndrome. Circulation 1992; 85: 188195.Google Scholar
5.Minakata, K, Konishi, Y, Matsumoto, M, Miwa, S. Surgical treatment for Scheie’s syndrome (mucopolysaccharidosis type I-S): report of two cases. Jpn Circ J 1998; 62: 700703.Google Scholar
6.Daimon, M, Yamagishi, M. Surgical treatment of marked mitral valvar deformity combined with I-cell disease ‘Mucolipidosis II’. Cardiol Young 2005; 15: 517519.Google Scholar
7.Ross, DN. Replacement of aortic and mitral valves with a pulmonary autograft. Lancet 1967; 2: 956958.Google Scholar
8.Lund, O, Chandrasekaran, V, Grocott-Mason, R, et al. Primary aortic valve replacement with allografts over twenty-five years: valve-related and procedure-related determinants of outcome. J Thorac Cardiovasc Surg 1999; 117: 7790; discussion 90-71.CrossRefGoogle ScholarPubMed
9.Hinton, RB Jr, Lincoln, J, Deutsch, GH, et al. Extracellular matrix remodeling and organization in developing and diseased aortic valves. Circ Res 2006; 98: 14311438.Google Scholar
10.Martin, PL, Carter, SL, Kernan, NA, et al. Results of the cord blood transplantation study (COBLT): outcomes of unrelated donor umbilical cord blood transplantation in pediatric patients with lysosomal and peroxisomal storage diseases. Biol Blood Marrow Transplant 2006; 12: 184194.CrossRefGoogle ScholarPubMed