Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy

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Author:
GUO Li-lin(Department of Cardiology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China)
FANG Li-gang(Department of Cardiology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China)
ZHU Wen-ling(Department of Cardiology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China)
DING Guo-fang(Department of Pediatrics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China)
Journal Title:
Chinese Medical Journal
Issue:
Volume 125, Issue 16, 2012
DOI:
10.3760/cma.j.issn.0366-6999.2012.16.030
Key Word:
glycogen storage disease;cardiomyopathy

Abstract:

  • 1.Ogimoto A,Okubo M,Okayama H,Shin YS,Endo Y,Ebara T,et al A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.Circ J 2007; 71:1653-1656.
  • 2.Vertilus SM,Austin SL,Foster KS,Boyette KE,Bali DS,Li JS,et al.Echocardiographic manifestations of glycogen storage disease Ⅲ:increase in wall thickness and left ventricular mass over time.Genet Med 2010; 12:413-423.
  • 3.Akazawa H,Kuroda T,Kim S,Mito H,Kojo T,Shimada K.Specific heart muscle disease associated with glycogen storage disease type Ⅲ:Clinical similarity to the dilated phase of hypertrophic cardiomyopathy.Eur Heart J 1997; 18:532-533.
  • 4.Arad M,Maron B J,Gorham JM,Johnson WH Jr,Saul JP,Perez-Atayde AR,et al.Glycogen storage diseases presenting as hypertrophic cardiomyopathy.N Engl J Med 2005; 352:362-372.
  • 5.Levine JC,Kishnani PS,Chen YT,Herlong JR,Li JS.Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.Pediatr Cardiol 2008; 29:1033-1042.
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