Pompe's disease presenting as supraventricular tachycardia

Area of Science:

• Pediatric Cardiology
• Metabolic Disorders
• Genetics

Background:

• Pompe disease (glycogen storage disease type II) is a rare inherited metabolic disorder caused by deficiency of acid alpha-glucosidase.
• It leads to progressive accumulation of glycogen in lysosomes, affecting multiple organs, particularly skeletal and cardiac muscle.
• Cardiac involvement is a hallmark of infantile-onset Pompe disease, often presenting as hypertrophic cardiomyopathy.

Observation:

• This report details an unusual presentation of supraventricular tachycardia in a Chinese infant diagnosed with Pompe disease.
• The infant's clinical course was complicated by the development of ventricular fibrillation.
• The case underscores the variability in cardiac manifestations of Pompe disease.

Findings:

• The supraventricular tachycardia observed in this infant was an atypical initial cardiac manifestation of Pompe disease.
• The progression to ventricular fibrillation indicates a severe and potentially fatal cardiac electrical instability.
• Detailed discussion of the clinical presentation and arrhythmia mechanism is provided.

Implications:

• Early recognition of cardiac arrhythmias, even atypical ones, is crucial for managing infants with Pompe disease.
• Understanding the electrophysiological mechanisms underlying arrhythmias in Pompe disease can inform therapeutic strategies.
• This case emphasizes the need for comprehensive cardiac monitoring in affected infants to prevent sudden cardiac death.