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European Heart Journal 1983 4(1):41-43;
Copyright © 1983 by the European Society of Cardiology.
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© 1983, by the European Society of Cardiology

Echocardiographic features in the cardiac type of glycogen storage disease II

W. J. GUSSENHOVEN*,, H. F. M. BUSCH{dagger}, W. J. KLEIJER{ddagger} and V. H. DE VILLENEUVE§

*Interuniversity Cardiology Institute, Thoraxcenter Rotterdam, The Netherlands
{dagger}Departments of Neurology, Pathology Rotterdam, The Netherlands
{ddagger}Departments of Genetics Rotterdam, The Netherlands
§Departments of Sophia Children's Hospital, Erasmus University Rotterdam, The Netherlands

Received 8 December 1981; .

Requests for reprints to: Dr W. J. Gussenhoven, Echolaboratory, Room Ee 2302, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands

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.

Key Words: Echocardiography • glycogen storage disease • hypertrophic cardiomyopathy


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