Pompe Disease: From a Cardiovascular Lens

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder.
• It stems from a deficiency in the acid α-glucosidase enzyme, leading to glycogen accumulation in lysosomes, particularly in muscles.
• Cardiovascular complications are a significant feature of Pompe disease.

Purpose of the Study:

• To review the impact of enzyme replacement therapy (ERT) on infantile-onset Pompe disease.
• To highlight persistent cardiac issues in patients undergoing long-term ERT.
• To emphasize the necessity of continued cardiovascular surveillance in Pompe disease patients.

Main Methods:

• Literature review of studies on Pompe disease and its treatment.
• Analysis of long-term follow-up data for patients receiving alglucosidase alfa.
• Evaluation of cardiovascular outcomes in treated individuals.

Main Results:

• Enzyme replacement therapy (alglucosidase alfa) has transformed infantile-onset Pompe disease from fatal to treatable.
• Long-term ERT is associated with ongoing cardiac problems, including conduction defects and arrhythmias.
• Residual myocardial fibrosis remains a concern in patients on long-term therapy.

Conclusions:

• While ERT has improved outcomes, Pompe disease management requires sustained attention to cardiac health.
• Continued cardiovascular monitoring is crucial for patients with Pompe disease on enzyme replacement therapy.
• Further research may be needed to address residual cardiac manifestations.