Glycogen storage disease type II echocardiography or 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

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
    • Late onset GSD type 2

References

  1. 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.
  2. 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.



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