Enzyme replacement therapy (ERT) could help normalize cardiac function and subsequently allow a reduction in the frequency of echocardiographic testing in patients with Pompe disease (PD), according to a study recently published in the International Journal of Cardiology.

“Cardiac function, measured using myocardial deformation analysis, normalizes after start of ERT, and seems to remain stable over a median follow-up period of 9.9 years,” the authors wrote.

Read more about PD therapies

Continue Reading

This prospective, observational study included 27 patients previously diagnosed with classic infantile PD who received treatment with ERT and underwent sequential cardiological evaluations, including echocardiographic and myocardial deformation analysis. On the other hand, the control group comprised 103 healthy children who underwent echocardiographic imaging.

Overall, the study analyzed 192 echocardiograms during a follow-up time that ranged from 7.5 to 16.3 years, with a median of 9.9 years. During the baseline assessment, patients with PD showcased an increased left ventricular myocardial index (LVMI) compared to that of healthy controls, with a mean of 292.5 g/m2

ERT notably induced a reduction in the LVMI, and after 1 year of this therapy, most patients achieved normal measurements, with a mean of 87.3 g/m2. Likewise, cardiac function, assessed by right ventricular/left ventricular (LV) longitudinal and circumferential strains, was initially low among patients with PD, but it normalized by the 1-year follow-up. Moreover, the mean shortening fraction remained within normal limits for up to 22 years.

Notably, the only parameter that did not remain stable was LV circumferential strain, which gradually increased by about 0.24% each year when compared to that of healthy individuals. Conversely, although LV longitudinal strain was initially lower in patients with PD, it did not showcase a similar pattern to circumferential strain and instead remained mostly stable.

These results yield valuable information regarding the management of patients with PD receiving ERT.

“These results suggest that the frequency of echocardiographic studies can be reduced (but not stopped) in the follow-up of classic infantile Pompe patients once the cardiac function has been normalized, as we did not find a clinically relevant decline in cardiac function,” the authors highlighted.


Scheffers LE, Kok R, van den Berg LE, et al. Effects of enzyme replacement therapy on cardiac function in classic infantile Pompe disease. Int J Cardiol. Published online March 8, 2023. doi:10.1016/j.ijcard.2023.03.010