3D Echocardiography Managing Infantile Pompe's Disease

Pompe's disease, also known as glycogen storage disease type II, is a genetic disorder due to deficiency of acid glucosidase (GAA), which results in lysosomal glycogen storage in various tissues. Very low levels of GAA usually present in infancy, lead to a progressive cardiac and skeletal muscle disorder and death before age 1 year. Most infants develop massive hypertrophic cardiomyopathy which progresses to dilated cardiomyopathy and cardiorespiratory arrest. 3D echocardiography can be a simple, non-invasive method of following cardiac disease progression in infantile Pompe's disease.