Key result
ERT normalizes cardiac strain in infantile Pompe disease within 1 year despite gradual LV worsening.
Why the study?
Patients with classic infantile Pompe disease are born with hypertrophic cardiomyopathy that resolves after ERT, but potential deterioration of cardiac function over time is unclear.
Does enzyme replacement therapy improve or stabilize cardiac function in patients with classic infantile Pompe disease?
Cohort (n=130)
Does enzyme replacement therapy improve or stabilize cardiac function in patients with classic infantile Pompe disease?
Enzyme replacement therapy normalizes and stabilizes cardiac function over long-term follow-up in classic infantile Pompe disease, though subtle worsening in LV circumferential strain may occur.
May support long-term cardiac stabilization with ERT in infantile Pompe; leaves open clinical relevance of gradual circumferential strain decline.
OBJECTIVE: Patients with classic infantile Pompe disease are born with a hypertrophic cardiomyopathy, which resolves after treatment with Enzyme replacement therapy (ERT). We aimed to assess potential deterioration of cardiac function over time using myocardial deformation analysis. METHODS: Twenty-seven patients treated with ERT were included. Cardiac function was assessed at regular time intervals (before and after start with ERT) using conventional echocardiography and myocardial deformation analysis. Separate linear mixed effect models were used to asses temporal changes within the first year and the long-term follow-up period. Echocardiograms of 103 healthy children served as controls. RESULTS: (CI: 67.5-107.1, mean Z-score + 0.8, p < 0.001). Mean shortening fraction was within normal limits before start of ERT, up to 22 years of follow-up. Cardiac function measured by RV/LV longitudinal, and circumferential strain was diminished before start of ERT, but normalized (<-16%) within 1 year after start of ERT, and all remained within normal limits during follow-up. Only LV circumferential strain gradually worsened in Pompe patients (+0.24%/year) during follow-up compared to controls. LV longitudinal strain was diminished in Pompe patients, but did not change significantly over time compared to controls. CONCLUSION: 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.
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Scheffers et al. (2023) conducted a cohort in Classic infantile Pompe disease (n=130). Enzyme replacement therapy (ERT) vs. Healthy children was evaluated on Cardiac function (myocardial deformation analysis). Enzyme replacement therapy in classic infantile Pompe disease normalized cardiac strain within 1 year, remaining stable over a median 9.9 years, though LV circumferential strain gradually worsened.
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