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

Authors

Amirhossein Esmaeeli
Prashant Nagpal
Jefree J. Schulte
Sofia C. Masri, Thomas Jefferson UniversityFollow
Peter S. Rahko

Document Type

Report

Publication Date

11-7-2023

Comments

This article is the author's final published version in Annals of Internal Medicine Clinical Cases, Volume 2, Issue 11, November 2023, Article number e230463.

The published version is available at https://doi.org/10.7326/aimcc.2023.0463.

Copyright © 2023 Authors

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.

Recommended Citation

Esmaeeli, Amirhossein; Nagpal, Prashant; Schulte, Jefree J.; Masri, Sofia C.; and Rahko, Peter S., "Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament" (2023). Division of Cardiology Faculty Papers. Paper 149.
https://jdc.jefferson.edu/cardiologyfp/149

Creative Commons License

This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Language

English