Glycogen storage disease type III echocardiography and ultrasound: Difference between revisions
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**Preserved systolic function | **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: | * 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:<ref name="KishnaniAustin2010">{{cite journal|last1=Kishnani|first1=Priya S|last2=Austin|first2=Stephanie L|last3=Arn|first3=Pamela|last4=Bali|first4=Deeksha S|last5=Boney|first5=Anne|last6=Case|first6=Laura E|last7=Chung|first7=Wendy K|last8=Desai|first8=Dev M|last9=El-Gharbawy|first9=Areeg|last10=Haller|first10=Ronald|last11=Smit|first11=G Peter A|last12=Smith|first12=Alastair D|last13=Hobson-Webb|first13=Lisa D|last14=Wechsler|first14=Stephanie Burns|last15=Weinstein|first15=David A|last16=Watson|first16=Michael S|title=Glycogen Storage Disease Type III diagnosis and management guidelines|journal=Genetics in Medicine|volume=12|issue=7|year=2010|pages=446–463|issn=1098-3600|doi=10.1097/GIM.0b013e3181e655b6}}</ref><ref name="pmid11745852">{{cite journal| author=Pozzato C, Botta A, Melgara C, Fiori L, Giannì ML, Riva E| title=Sonographic findings in type I glycogen storage disease. | journal=J Clin Ultrasound | year= 2001 | volume= 29 | issue= 8 | pages= 456-61 | pmid=11745852 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11745852 }} </ref> | ||
**[[Hepatomegaly]] | **[[Hepatomegaly]] | ||
**Increased [[hepatic]] [[echogenicity]] | **Increased [[hepatic]] [[echogenicity]] |
Revision as of 16:05, 22 December 2017
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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.