North Texas Research Forum 2023



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North Texas


Medical City Fort Worth


Internal Medicine

Document Type


Publication Date



glycogen storage disease type I, von gierke


Cardiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Internal Medicine | Nutritional and Metabolic Diseases


Von Gierke disease is an inherited Glycogen Storage disease - type 1 resulting from deficiencies in the specific enzymes glucose 6 phosphatase(1a), and/or glucose 6 phosphate translocase(1b) glycogen metabolism pathway. Von Gierke disease is commonly seen in the pediatric population and is known for his hepatic and renal manifestations. Here we discuss a rare case of Von Gierke’s disease causing some rare cardiac manifestations. 41yo M with PMHx significant for Von Gierke type 1a, HFrEF complicated by VT s/p ICD, HTN who presented for complaints of continued SOB with new muscle soreness. On arrival, lactic acid was elevated at 5.2, troponin and EKG were not obtained in the ED. Trans-thoracic echocardiogram obtained was consistent with HFrEF with a LVEF 30-35%, severe diffuse hypokinesis, bileaflet aortic valve, severely calcified aortic stenosis with a peak systolic velocity 3.2m/sec, peak systolic gradient 50 mmhg, mean gradient 30 mmhg, and valve area 1.1. The patient was evaluated for aortic valve replacement. Left and right heart catheterization shows an invasive gradient of 20 mmhg and angiographically normal epicardial coronary arteries. As mentioned, Von Gierkes is not typically seen in this middle aged group let alone with unexplained cardiac manifestations. Our patient had heart failure for 10 years prior to presentation and risk factors for CAD and ischemic cardiomyopathy were ruled out. Although not confirmed by biopsy, as the management would not change, the etiology is likely attributed to this patient's von Gierke's disease due to deposition of glycogen in the cardiac membrane. This patient lived longer than most individuals with this disease. It is important to bring awareness to this rare disease with even more rare cardiac manifestations that have not been well studied. Patients should undergo screening from an early age to identify cardiac manifestations and be provided appropriate resources including genetic counseling.

Original Publisher

HCA Healthcare Graduate Medical Education

A Rare Case of Von Gierke causing Severe Aortic Stenosis



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