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Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)

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Summary

A 6-year-old girl with mucopolysaccharidosis (MPS) III-B (Sanfilippo syndrome) who developed severe mitral regurgitation and congestive heart failure requiring surgery (valvuloplasty) is reported. One year after surgery the patient remains well, with marked improvement in her physical activity, and without signs of heart failure. This is only the second report of severe mitral regurgitation in MPS III, and is the first report of a successful repair (valvuloplasty) of a dysplastic mitral valve in the MPS. Mitral valvuloplasty should be considered instead of valve replacement in any MPS patient with mitral valve regurgitation requiring surgery.

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Authors and Affiliations

  1. Division of Biochemical Genetics and Metabolism, University of Michigan Medical School, Ann Arbor, Michigan, USA

    Joseph Muenzer

  2. Division of Cardiology, University of Michigan Medical School, Ann Arbor, Michigan, USA

    Robert H. Beekman

  3. Department of Pediatrics, MSRB II 3570B, University of Michigan Medical Center, Box 0688, 48109, Ann Arbor, MI, USA

    Lisa M. Profera

  4. Section of Thoracic Surgery, Department of Surgery, University of Michigan Medical School, Ann Arbor, Michigan, USA

    Edward L. Bove

Authors
  1. Joseph Muenzer
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  2. Robert H. Beekman
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  3. Lisa M. Profera
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  4. Edward L. Bove
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Muenzer, J., Beekman, R.H., Profera, L.M. et al. Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Pediatr Cardiol 14, 130–132 (1993). https://doi.org/10.1007/BF00796996

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  • DOI: https://doi.org/10.1007/BF00796996

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