Analysis of echocardiograms of 27 patients with infantile Pompe disease on enzyme replacement therapy (ERT) obtained during a median follow-up of 9.9 years (maximum 22 years) shows:
- a normalization of the left ventricular mass index after 1 year of ERT;
- the mean shortening fraction was within normal limits before ERT and remained so until 22 years of follow-up;
- longitudinal and circumferential myocardial deformations decreased before ERT and normalized with treatment and remained within normal limits throughout follow-up, although left ventricular longitudinal myocardial deformation progressively worsened over time (+0.24% per year).