Abstract
In glycogen storage disease type III (GSD III), deficiency of the debranching enzyme causes storage of an intermediate glycogen molecule (limit dextrin) in the affected tissues. In subtype IIIa hepatic tissue, skeletal- and cardiac muscle tissue is affected, while in subtype IIIb only hepatic tissue is affected. Cardiac storage of limit dextrin causes a form of cardiomyopathy, which resembles primary hypertrophic cardiomyopathy on cardiac ultrasound. We present a 32-year-old GSD IIIa patient with severe left ventricular hypertrophy (LVH) first diagnosed at the age of 8 years. LVH remained stable and symptomless until the patient presented at age 25 years with increasing dyspnea, fatigue, obesity, and NYHA (New York Heart Association) functional classification two out of four. Dyspnea, fatigue, and obesity progressed, and at age 28 years she was severely symptomatic with NYHA classification 3+ out of 4. On echocardiogram and electrocardiogram, the LVH had progressed as well. Initially, she was rejected for cardiac transplantation because of severe obesity. Therefore, a 900 cal, high protein diet providing 37% of total energy was prescribed during 4 months on which 10 kg weight loss was achieved. However, her symptoms as well as the electrocardiographic and echocardiographic LVH indices had improved dramatically – ultimately deferring cardiac transplantation. Thereafter, the caloric intake was increased to 1,370 cal per day, and the high protein intake was continued providing 43% of total energy. After 3 years of follow-up, the patient remains satisfied with reasonable exercise tolerance and minor symptoms in daily life.
Competing interests: None declared.
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Acknowledgments
We thank Margreet van Rijn, Ph.D. and Els B. Haagsma, M.D., Ph.D. of the University Medical Centre Groningen for providing information on the natural course and dietary regimen.
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Communicated by: Alberto B Burlina.
Synopsis
Synopsis
Hypertrophic cardiomyopathy in glycogen storage disease type IIIa may be reversible by a low calorie, high protein diet, even in severely symptomatic patients for whom cardiac transplantation is being considered.
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Sentner, C.P., Caliskan, K., Vletter, W.B., Smit, G.P.A. (2011). Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient. In: JIMD Reports - Case and Research Reports, 2012/2. JIMD Reports, vol 5. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_111
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DOI: https://doi.org/10.1007/8904_2011_111
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