Glycogen storage disease type III echocardiography and ultrasound
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Echocardiography/Ultrasound
- Echocardiography may be helpful in the detection of cardiomyopathy due to glycogen storage disease type 3. Findings on an echocardiography suggestive of cardiomyopathy due to echocardiography include:[1][2]
- Elevated left ventricular mass and thickness
- Preserved systolic function
- Ultrasound may be helpful in the diagnosis of glycogen storage disease type 1. Findings on an ultrasound suggestive of glycogen storage disease type 1 include:[1][3]
- Hepatomegaly
- Increased hepatic echogenicity
- Abdominal ultrasound should be performed at baseline and every 12-24 months to detect evidence of cirrhosis, hepatic adenoma, and hepatocellular carcinoma.
References
- ↑ 1.0 1.1 Kishnani, Priya S; Austin, Stephanie L; Arn, Pamela; Bali, Deeksha S; Boney, Anne; Case, Laura E; Chung, Wendy K; Desai, Dev M; El-Gharbawy, Areeg; Haller, Ronald; Smit, G Peter A; Smith, Alastair D; Hobson-Webb, Lisa D; Wechsler, Stephanie Burns; Weinstein, David A; Watson, Michael S (2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine. 12 (7): 446–463. doi:10.1097/GIM.0b013e3181e655b6. ISSN 1098-3600.
- ↑ Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS; et al. (2010). "Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time". Genet Med. 12 (7): 413–23. doi:10.1097/GIM.0b013e3181e0e979. PMC 3763918. PMID 20526204.
- ↑ Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E (2001). "Sonographic findings in type I glycogen storage disease". J Clin Ultrasound. 29 (8): 456–61. PMID 11745852.