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Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant
Implications for newborn screening
Herbert, M., Cope, H., Li, J. S., & Kishnani, P. S. (2018). Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant: Implications for newborn screening. Journal of Pediatrics, 198, 308-312. https://doi.org/10.1016/j.jpeds.2018.02.007
Based on a review of a large patient cohort, published literature, and 3 newborn screening cohorts, we concluded that children diagnosed through newborn screening with late-onset Pompe disease and the common heterozygous c.-32-13T>G variant require frequent cardiac follow-up with electrocardiography for arrhythmias. However, there is limited evidence for performing repeated echocardiography for cardiomyopathy.
