Long-term maintenance of normalized cardiac function on ERT in infantile Pompe disease

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).


Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease. Scheffers LE, Kok R, van den Berg LE et al. Int J Cardiol. 2023 Mar 8:S0167-5273(23)00338-8.