Skip to main content
×
Home

Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation

  • Naruhito Watanabe (a1), Petros V. Anagnostopoulos (a1) and Anthony Azakie (a1)
Abstract
Abstract

We describe a case of severe aortic stenosis in a 16-year-old male with Hurler's syndrome who had prior bone marrow transplantation. The excised aortic valve leaflets showed characteristic pathologic findings of Hurler's syndrome. This is the first case report of aortic valve replacement in a patient with Hurler's syndrome treated with bone marrow transplantation that demonstrates progression of the aortic valve disease despite treatment.

Copyright
Corresponding author
Correspondence to: Dr A. Azakie, MD, UCSF Benioff Children's Hospital, University of California San Francisco, 513 Parnassus Avenue, San Francisco, California 94143, United States of America. Tel: 415 476 3501, Fax: 415 476 9678; E-mail: Tony.Azakie@ucsfmedctr.org
References
Hide All
1. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet 1990; 86: 389390.
2. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in mucopolysaccharidosis I: Hurler, Hurler-Scheie, and Scheie syndromes in the UK. Orphanet J Rare Dis 2008; 3: 24.
3. Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981; 2: 709712.
4. Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: effects of allogeneic bone marrow transplantation. Arch Dis Child 1995; 73: 259260.
5. Braunlin EA, Stauffer NR, Peters CH, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92: 882886.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Keywords:

Metrics

Full text views

Total number of HTML views: 3
Total number of PDF views: 12 *
Loading metrics...

Abstract views

Total abstract views: 81 *
Loading metrics...

* Views captured on Cambridge Core between September 2016 - 23rd November 2017. This data will be updated every 24 hours.