Outcome of ten years' echocardiographic follow-up in children with Gaucher disease

The non-neuronopathic form Gaucher disease, the most prevalent lysosomal storage disorder, is marked by tremendous phenotypic heterogeneity; cardio-pulmonary involvement is distinctly rare except in the most severely affected patients. With the advent of enzyme replacement therapy, most symptomatic patients will not suffer from lung disease. However, because of concern about pulmonary hypertension among adult patients exposed to enzyme replacement therapy, echocardiography has been recommended as an early warning system for routine follow-up of all patients, including children. The purpose of this study was to review the results of more than a decade of echocardiographic findings in children followed semi-annually in a large referral clinic in order to ascertain whether echocardiography as an early signal of pulmonary hypertension in children is appropriate. 330 echocardiographic examinations were performed in 71 children (276 patient follow-up years). Only four patients receiving enzyme therapy each had a single abnormal examination that upon repeat examination six months later reverted to within normal limits. There were no abnormal results among the untreated patients. Therefore, we feel comfortable with rescinding our recommendation with regard to routine echocardiographic examinations in children. At the present time we believe that a baseline examination to rule out abnormalities would be sufficient.