Researchers reported concerning intensive hemodynamic monitoring during cheiloplasty in an infant with Pompe disease, as published in Frontiers in Pediatrics.

A 4-month-old infant presented with a cleft lip and palate during the prenatal examination. She also had mild hypotonia without dysarthria or dysphagia, and occasional shortness of breath.

Laboratory findings included high aspartate aminotransferase of 125 U/L, high alanine aminotransferase of 48 U/L, high creatinine kinase of 872 U/L, and low acid alpha-glucosidase enzyme (GAA) test of 0.04 μM/h.

Continue Reading

The X-ray revealed cardiomegaly, and her left ventricular mass index (LVMI) was 105.49 g/m2.7, which was higher than the 95th percentile for an infant under 6 months old. Acidic α-glucosidase (GAA) gene sequencing revealed 2 pathogenic heterozygous mutations, and cross-reactive immunological material status was positive. 

Read more about Pompe disease diagnosis

With all the findings as detailed above, she was diagnosed with Pompe disease and started enzyme replacement therapy (ERT). The patient then underwent cardiac surgery, in which her patent ductus arteriosus and patent foramen ovale were closed. Her LVMI levels then decreased to 65.5 g/m2.7.

The patient underwent cheiloplasty for her cleft lip and palate. For hemodynamic monitoring, her surgeons placed a radial arterial line and FloTrac system. The surgeons carried out intensive hemodynamic monitoring throughout the surgery and titrated the patient’s inhalation gas concentration accordingly. The surgery was successfully performed. 

“After 3 months of follow-up, the patient was able to roll over, lie prone on the forearms, and reach out for objects, and she had a social smile. However, she could not maintain a sitting position unassisted, indicating slower development potentially than other infants of the same age,” Liu et al wrote.

Half a year after receiving ERT, the patient’s anti-GAA antibody became positive and she was started on hydrocortisone. The authors of the study ended the case report by writing that they will monitor her anti-GAA antibody status to see if additional immunosuppressants are needed.


Liu MC, Wang MT, Chen PK, et al. Case report: anesthetic management and electrical cardiometry as intensive hemodynamic monitoring during cheiloplasty in an infant with enzyme-replaced Pompe disease and preserved preoperative cardiac functionFront Pediatr. Published online December 13, 2021. doi:10.3389/fped.2021.729824