Echocardiographic features in the cardiac type of glycogen storage disease II

Abstract

Clinical and echocardiographic findings of a six-month-old female with the cardiac variety of glycogen storage disease II type (Pompe's disease) are described. Obviously thickened right and left ventricular walls were detected with both M-mode and two-dimensional echocardiography. Echocardiographic features were similar to those seen in extreme hypertrophic cardiomyopathy. In combination with the clinical and biochemical features, this echocardiographic technique may be helpful in the early diagnosis of cardiac involvement in generalized glycogenosis.