Infants with intrauterine-onset Pompe disease mostly have early manifestations of heart disease, according to a new study published in the Italian Journal of Pediatrics. Based on this finding, the authors suggest that molecular genetic testing should be conducted as soon as possible to ensure that patients start receiving treatment in a timely manner.

Pompe disease is a rare genetic disease caused by mutations in the gene that codes the acid alpha-glucosidase (GAA) enzyme. The disease is classified into 2 main categories based on the age of onset of the symptoms and the presence or absence of heart disease.

The most severe form of the disease is called infantile-onset Pompe disease in which symptoms appear before 12 months of age, although some very rare cases of intrauterine onset have also been reported.

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The case presented here is that of a newborn baby admitted to The Affiliated Hospital of Qingdao University in China due to cardiac hypertrophy found in utero and shortness of breath and cyanosis after birth. Echocardiography showed that the patient had left and right ventricular hypertrophy. She was treated with noninvasive ventilator-assisted respiration, fluid restriction, diuresis, and metoprolol.

Read more about the symptoms of Pompe disease

Genetic testing showed that the patient had the homozygous gene mutation c.1844G>T(p.Gly615Val) in the GAA gene, which led to a diagnosis of Pompe disease.

The researchers also conducted a literature search and identified 3 articles reporting on 5 infants with intrauterine-onset Pompe disease. Of those, 3 were reported to have hypertrophic cardiomyopathy, 1 to have dilated cardiomyopathy, and 1 to have myocardial “mass.”

The levels of creatine kinase were elevated and the activity of the GAA enzyme was decreased in all cases. Two patients required ventilator-assisted support and 4 received enzyme replacement therapy (ERT).

“For fetuses with intrauterine cardiac disease, enzyme assays and genetic testing should be completed as soon as possible before birth, so as to provide information for family members to make early decision,” the researchers wrote. “In addition, ERT treatment can be carried out as soon as possible after birth to prevent organ damage and improve long-term prognosis.”


Xi H, Li X, Ma L, Yin X, Yang P, Zhang L. A case of infantile Pompe disease with intrauterine onset and literature review. Ital J Pediatr. Published online July 11, 2022. doi:10.21203/