Glycogen storage disease type II echocardiography or ultrasound: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}}{{Anmol}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==Overview== | ||
An [[echocardiography]] may be helpful in the diagnosis of cardiac complications of glycogen storage disease type 2 (GSD type 2). Findings for infantile GSD type 2 include [[cardiomegaly]] and findings for late onset GSD type 2 include [[dilated cardiomyopathy]]. | |||
==Echocardiography== | |||
==Echocardiography | |||
*An [[echocardiography]] may be helpful in the diagnosis of cardiac complications of glycogen storage disease type 2 (GSD type 2), which include:<ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref> | *An [[echocardiography]] may be helpful in the diagnosis of cardiac complications of glycogen storage disease type 2 (GSD type 2), which include:<ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref> | ||
** '''Infantile GSD type 2''' | ** '''Infantile GSD type 2''' |
Revision as of 19:38, 23 January 2018
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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
An echocardiography may be helpful in the diagnosis of cardiac complications of glycogen storage disease type 2 (GSD type 2). Findings for infantile GSD type 2 include cardiomegaly and findings for late onset GSD type 2 include dilated cardiomyopathy.
Echocardiography
- An echocardiography may be helpful in the diagnosis of cardiac complications of glycogen storage disease type 2 (GSD type 2), which include:[1][2]
- Infantile GSD type 2
- Cardiac hypertrophy
- Increased thickness of the left ventricular posterior wall
- Increased thickness of the intra-ventricular septum
- Rarely, outflow tract obstruction may be present
- Cardiac hypertrophy
- Late onset GSD type 2
- Infantile GSD type 2
References
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=
value (help). PMC 3110959. PMID 16702877.