Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
- 52 Downloads
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.
KeywordsPulmonary Artery Replacement Therapy Pulmonary Hypertension Dobutamine Patient Management
- 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
- 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
- Peacock AJ (1999) Primary pulmonary hypertension. Thorax 54(12): 1107-1118.Google Scholar