Cardiac abnormalities in chronic progressive external ophthalmoplegia

Area of Science:

• Cardiology
• Neurology
• Mitochondrial Diseases

Background:

• Chronic progressive external ophthalmoplegia (CPEO) is a rare neuromuscular disorder.
• Cardiac involvement can occur in CPEO, but is not well-characterized.
• This case highlights cardiac manifestations in a young adult with CPEO.

Observation:

• A 32-year-old man with CPEO presented with cardiac abnormalities.
• Electrocardiogram revealed first-degree AV block and left bundle-branch block.
• His bundle electrogram showed HV prolongation, indicating conduction system disease.

Findings:

• Endomyocardial biopsy demonstrated cardiac hypertrophy.
• Electron microscopy revealed an increased number of structurally normal mitochondria.
• These findings suggest mitochondrial dysfunction may contribute to cardiac issues in CPEO.

Implications:

• Patients with CPEO are at risk for developing complete heart block.
• Early cardiac evaluation and monitoring are crucial for individuals with CPEO.
• Pacemaker insertion may be necessary to manage conduction abnormalities and prevent heart block.