Objectives: Infantile Pompe disease is a rapidly progressive lysosomal storage disease with fatality before 18 months. A deficiency of lysosomal alpha-glucosidase results in glycogen storage within many cells, including cardiac myocytes. The resultant cardiomyopathy presents in early infancy. Most patients die of cardiac or respiratory failure in the first year of life. The effects of ERT on cardiac remodelling have thus far suggested preservation of cardiac function during remodelling. We report our experience of the cardiac response of eight patients to ERT (myoenzyme).

Methods: Retrospective review of the echocardiograms of eight children with Pompe looking at the Left Ventricular mass, LVPWd and FS over time after initiation of ERT.

Results: Eight patients with median age of 43 months(IQR:13 – 63).All children except one had regression of ventricular hypertrophy in response to ERT, with near normalisation of posterior wall thickness, ventricular mass and ventricular size. Systolic function was preserved and their FS improved with ERT despite rapid changes in ventricular mass and size. The oldest patient in our series is eight years old, has no Left Ventricular Hypertrophy and has normal ECG. One child (No. 6 in the chart) who died while on Enzyme replacement had enzyme specific antibody response, which may have decreased the efficacy of ERT. He also differed as initially he had dilated Cardiomyopathy. This patient in fact had increase in LV mass during ERT.

Conclusions: During ERT therapy, there appears to be preservation and indeed improvement in left ventricular function while cardiac remodelling occurs.