NCT00277979

3D Echocardiography Managing Infantile Pompe's Disease

Utilization of 3D Echocardiography in the Management of Infantile Pompe's Disease: Two Case Reports

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 2 (actual)
• Sponsor: Children's Healthcare of Atlanta · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

We report the utilization of real-time 3D echocardiography and new in-line software to calculate cardiac mass, volume and function in two cases of infantile Pompe's Disease. Furthermore, the multi-dimension cine loop showed the severity of cavity obliteration during the cardiac cycle. We present 2 cases seen at our institution between January - February, 2005 in infants ages 1 and 5 months, both with cardiac signs as initial presentation. The younger infant had cardiomegaly since birth and was hospitalized briefly for respiratory distress at 1 month. The older infant, diagnosed at 4 months with hypertrophic cardiomyopathy, was hospitalized after cardiac arrest one month later. Both children had various tests done during the course of diagnosis and treatment, including GAA enzyme assay, cardiac catheterization, endomyocardial biopsy, developmental assessment, genetic evaluation, EKG, CXR and echocardiography.

Conditions

• Congenital Disorders

Timeline

• Start date: 2005-01-01
• Primary completion: 2007-02-01
• Completion: 2007-02-01
• First posted: 2006-01-18
• Last updated: 2012-03-16