Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament

Abstract

Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications. This case report discusses a patient who presented with cardioembolic renal infarction and was ultimately diagnosed with glycogen storage disease XV (which is extremely rare). The diagnosis was made by pursuing multimodality imaging, endomyocardial biopsy, and genetic testing.