Pompe disease


What are the cardiac problems in Infantile onset Pompe disease?

The most common cardiac issues in infantile onset Pompe disease (IOPD) include cardiomyopathy (heart disease), heart failure, and arrhythmias (irregular heartbeat). Cardiomyopathy happens because of the buildup of glycogen in the cells of the heart muscle which makes the heart get bigger than it is supposed to be (hypertrophy). The buildup of glycogen also leads to conduction problems that can be seen on an electrocardiogram (ECG or EKG). These conduction problems should be treated with medication or a specific procedure called ablation because they can lead to serious health problems or sudden death if left untreated. Individuals with Pompe disease should have regular checks of their heart and may need to avoid certain medications. They should be seen regularly by their main doctor as well as a cardiologist (heart specialist).

Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.

Pompe Disease - Managing Symptoms: Heart Health https://www.pompe.com/en/patients/managing-pompe/managing-symptoms/heart-health.aspx

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