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: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
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 elevated left ventricular mass and thickness. Ultrasound may be helpful in the diagnosis of glycogen storage disease type 3. Findings on an ultrasound suggestive of glycogen storage disease type 3 include hepatomegaly and 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.
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 3. Findings on an ultrasound suggestive of glycogen storage disease type 3 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.