Pompe’s disease is glycogen storage disease type II. Pompe’s disease is due to deficiency of acid alpha glucosidase. Pompe’s disease is inherited as autosomal recessive.

This enzyme is needed for breaking down glycogen. Hence, glycogen accumulates in various organs. Muscle- weakness of various muscles including pharyngeal and respiratory muscles. Liver- hepatomegaly. Heart- infiltrative cardiomyopathy. Intelligence is usually normal.

Onset of Pompe’s disease may be infantile, juvenile or adult. Infantile onset causes death before 2 years of age.

Treatment of Pompe’s disease is alglucosidase alpha, which is an analogue of the deficient enzyme. It is very costly, but very effective. In the LOTS study, it was proven to prevent deterioration of vital capacity.

The cardiac manifestations of Pompe’s disease can be classified into structural and electrical.

Structural- Pompe’s disease produces infiltrative cardiomyopathy characterised by thickening of ventricular walls and diastolic dysfunction. Less commonly, systolic dysfunction can also occur. Chest X-ray reveals cardiomegaly. The presence of cardiomegaly in a floppy infant should make one suspect the diagnosis of Pompe’s disease.

Electrical- The characteristic ECG finding in Pompe’s disease is a short PR interval. This is due to cell swelling. EP studies have shown low PA and AH intervals with normal HV interval. Increased LV voltage is seen in Pompe’s disease and is due to thickening of ventricular walls. Increased QT dispersion is another characteristic finding in Pompe’s disease. Increased incidence of ventricular ectopics has also been reported in Pompe’s disease and is interesting in that it increases with enzyme replacement therapy while the other ECG findings of Pompe’s disease revert with decrease in ventricular wall thickness with enzyme replacement therapy.