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Journal of Inherited Metabolic Disease

, Volume 25, Issue 2, pp 131–132 | Cite as

Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease

  • S. Sirrs
  • J. Irving
  • G. McCauley
  • K. Gin
  • B. Munt
  • G. Pastores
  • P. Mistry
Article

Abstract

Pulmonary hypertension (PHT) is a complication of Gaucher disease. Screening with echocardiography is recommended for Gaucher patients. Two patients naive to enzyme replacement therapy are presented in whom resting echocardiography revealed no evidence of PHT. One of the patients also had normal pulmonary artery pressures at cardiac catheterization. The diagnosis of PHT was made with open lung biopsy in one patient and dobutamine echocardiography in the other. In both cases, diagnosis of PHT altered patient management. Resting echocardiographic assessment may fail to identify PHT in patients with Gaucher disease.

Keywords

Pulmonary Artery Replacement Therapy Pulmonary Hypertension Dobutamine Patient Management 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Elstein D, Klutstein MW, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A (1998) Echocardiographic assessment of pulmonary hypertension in Gaucher's disease. Lancet 351: 1544-1546.Google Scholar
  2. Mistry PK, Chung H, Wallenstein S, Sirrs S, Desnick RJ, Goldman M (2000) Pulmonary hypertension in type 1 Gaucher disease. Proceedings of the 4th European Working Group on Gaucher disease, Jerusalem, 39.Google Scholar
  3. Peacock AJ (1999) Primary pulmonary hypertension. Thorax 54(12): 1107-1118.Google Scholar

Copyright information

© Kluwer Academic Publishers 2002

Authors and Affiliations

  • S. Sirrs
    • 1
    • 2
  • J. Irving
    • 1
  • G. McCauley
    • 3
  • K. Gin
    • 1
  • B. Munt
    • 1
  • G. Pastores
    • 4
  • P. Mistry
    • 5
  1. 1.University of British ColumbiaVancouver
  2. 2.VancouverCanada
  3. 3.Kelowna General HospitalKelownaCanada
  4. 4.New York UniversityNew York
  5. 5.Mount Sinai School of MedicineNew YorkUSA

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