Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant:...

Area of Science:

• Genetics and rare diseases
• Pediatric cardiology
• Newborn screening

Background:

• Late-onset Pompe disease (LOPD) is a rare genetic disorder.
• Newborn screening (NBS) enables early detection of LOPD.
• The c.-32-13T>G variant is a common genetic factor in LOPD.

Purpose of the Study:

• To evaluate cardiac monitoring guidelines for children with LOPD diagnosed via NBS.
• To assess the utility of electrocardiography (ECG) and echocardiography in managing these patients.

Main Methods:

• Review of a large patient cohort.
• Analysis of published literature.
• Examination of three newborn screening cohorts.

Main Results:

• Children with LOPD and the c.-32-13T>G variant require frequent cardiac follow-up.
• Electrocardiography is crucial for detecting arrhythmias in this population.
• Limited evidence supports repeated echocardiography for cardiomyopathy surveillance.

Conclusions:

• Frequent ECG monitoring is recommended for pediatric LOPD patients identified by NBS with the c.-32-13T>G variant.
• Current evidence does not strongly support routine echocardiography for cardiomyopathy in this specific group.
• Clinical guidelines may need refinement based on these findings.