Cardiac MR imaging in Pompe disease

Area of Science:

• Cardiology
• Pediatric Imaging
• Genetic Metabolic Disorders

Background:

• Glycogen storage disease type II, or Pompe disease, is a rare inherited disorder.
• It causes progressive muscle weakness and failure, particularly affecting the heart in infants.
• Early diagnosis is crucial for managing cardiac complications.

Observation:

• A 5-month-old infant diagnosed with Pompe disease presented for cardiac evaluation.
• Magnetic resonance (MR) imaging was utilized to assess cardiac morphology and function.
• The study correlated MR findings with cardiac angiography and echocardiography data.

Findings:

• MR imaging demonstrated significant cardiac hypertrophy, affecting both the right and left ventricles.
• The interventricular septum was also hypertrophied.
• The myocardium exhibited an irregular, inhomogeneous appearance, indicative of infiltrative disease.

Implications:

• MR imaging provides detailed anatomical and tissue characterization of cardiac Pompe disease.
• These findings aid in differentiating Pompe disease from other causes of infantile cardiomyopathy.
• Accurate imaging is vital for monitoring disease progression and treatment response in affected infants.