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Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease
Author(s) -
Sirrs S.,
Irving J.,
McCauley G.,
Gin K.,
Munt B.,
Pastores G.,
Mistry P.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015680827730
Subject(s) - medicine , cardiac catheterization , pulmonary hypertension , cardiology , complication , dobutamine , pulmonary artery , disease , radiology , hemodynamics
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.