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JYMS : Journal of Yeungnam Medical Science

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HOME > J Yeungnam Med Sci > Volume 23(2); 2006 > Article
Case Report A Case of Glycogen Storage Disease with Hypertrophic Cardiomyopathy.
Dong Hee Kim, Sang Wook Kang, Won Jong Park, Kyoung Ae Jang, Joon Hyuk Choi, Woong Kim, Sang Hee LEE, Geu Ru Hong
Journal of Yeungnam Medical Science 2006;23(2):252-257
Published online: December 31, 2006
1Department of Internal Medicine, College of Medicine, Yeungnam University, Daegu, Korea.
2Department of Pathologic Medicine, College of Medicine, Yeungnam University, Daegu, Korea.
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Glycogen storage diseases are a heterogeneous group of metabolic disorder affecting multiple organ system: liver, skeletal muscle, heart and brain. Clinical features include: short status, hepatomegaly, hypoglycemia, dyslipidemia and rare involvement of the myocardium except in the case of type III, glycogen storage diseases with hypertrophic cardiomyopathy in adult, which is extremely rare. We treated a case of hypertrophic cardiomyopathy with hepatomegaly that was unknown etiology. The patient was diagnosed as having glycogen storage disease. This 46-year old women was transferred with dyspnea on exertion and abnormal LFTs. She was diagnosed with hypertrophic cardiomyopathy by echocardiography but there was no specific cause for hypertrophic cardiomyopathy. A liver biopsy was performed. The result showed glycogen storage disease possible type III, IV or IX. In conclusion, patients with hypertrophic cardiomyopathy of unknown etiology and abnormal LFTs should be evaluated for glycogen storage disease.

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