Literature DB >> 1614914

Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation.

X Viñallonga1, N Sanz, A Balaguer, L Miro, J J Ortega, J Casaldaliga.   

Abstract

Mucopolysaccharide storage disease (MPS) presents clinically with a broad spectrum of abnormalities, among which cardiovascular involvement has been described. The echocardiographic findings have recently been reported for the various types of MPS. Among these, asymmetric septal hypertrophy (ASH) has been documented. We present a case of a 9-year-old girl suffering from type I MPS, atypical variant, with echocardiographic signs of ASH. She was given a bone marrow transplant after which the hypertrophic cardiomyopathy regressed.

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Year:  1992        PMID： 1614914     DOI： 10.1007/BF00798216

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  5 in total

1.  Bone marrow transplantation for genetic diseases.

Authors:  J R Hobbs
Journal:  N Engl J Med       Date:  1985-05-09       Impact factor: 91.245

2.  Marrow transplantation in genetic disease.

Authors:  J A Barranger
Journal:  N Engl J Med       Date:  1984-12-20       Impact factor: 91.245

3.  Cardiac manifestations of the mucopolysaccharidoses.

Authors:  R M Schieken; R E Kerber; V V Ionasescu; H Zellweger
Journal:  Circulation       Date:  1975-10       Impact factor: 29.690

4.  Echocardiographic mitral valve deformity in the mucopolysaccharidoses.

Authors:  G L Johnson; D L Vine; C M Cottrill; J A Noonan
Journal:  Pediatrics       Date:  1981-03       Impact factor: 7.124

5.  Echocardiographic abnormalities in the mucopolysaccharide storage diseases.

Authors:  D M Gross; J C Williams; C Caprioli; B Dominguez; R R Howell
Journal:  Am J Cardiol       Date:  1988-01-01       Impact factor: 2.778
  5 in total
  14 in total

1.  Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors:  A Hinek; S E Wilson
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

2.  Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors:  A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

3.  Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.

Authors:  Daniel H Wiseman; Jean Mercer; Karen Tylee; Nilima Malaiya; Denise K Bonney; Simon A Jones; J Edmond Wraith; Robert F Wynn
Journal:  J Inherit Metab Dis       Date:  2012-06-21       Impact factor: 4.982

Review 4.  Trends in haematopoietic cell transplantation for inborn errors of metabolism.

Authors:  Jaap Jan Boelens
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 5.  Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Authors:  William Krivit
Journal:  Springer Semin Immunopathol       Date:  2004-09-25

6.  Gender-related dimorphism in aortic insufficiency in murine mucopolysaccharidosis type I.

Authors:  Jakub Tolar; Elizabeth Braunlin; Megan Riddle; Brandon Peacock; Ron T McElmurry; Paul J Orchard; Bruce R Blazar
Journal:  J Heart Valve Dis       Date:  2009-09

7.  Electrocardiographic and other cardiac anomalies in beta-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation.

Authors:  A J T Schuldt; T J Hampton; V Chu; C A Vogler; N Galvin; M D Lessard; J E Barker
Journal:  Proc Natl Acad Sci U S A       Date:  2004-01-02       Impact factor: 11.205

8.  Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.

Authors:  Aleksander Hinek; Kathy R Braun; Kela Liu; Yanting Wang; Thomas N Wight
Journal:  Am J Pathol       Date:  2004-01       Impact factor: 4.307

9.  Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation.

Authors:  M A Gatzoulis; A Vellodi; A N Redington
Journal:  Arch Dis Child       Date:  1995-09       Impact factor: 3.791

10.  alpha-L-iduronidase therapy for mucopolysaccharidosis type I.

Authors:  Jakub Tolar; Paul J Orchard
Journal:  Biologics       Date:  2008-12
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