Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis

Mol Genet Metab. 2014 Jul;112(3):218-23. doi: 10.1016/j.ymgme.2014.04.005. Epub 2014 Apr 30.

Abstract

Cardiac systolic function is significantly decreased in a proportion of patients with Hunter syndrome. This study was performed to evaluate the change in myocardial function associated with enzyme replacement therapy (ERT) in a mouse model of cardiomyopathy associated with Hunter syndrome. Thirty 9-week-old iduronate-2-sulfatase (IDS) knockout mice received either intravenous injection of human recombinant IDS (ERT group, N=15) or saline (control group, N=15) for 5 weeks. Echocardiography was performed at baseline and after treatment. Echocardiographic parameters of left ventricular (LV) systolic function and 2-dimensional radial and circumferential strain were assessed. At follow-up, there was a significant increase in LV fractional shortening and radial and circumferential strain in the ERT group only. Notable myocardial fibrosis was observed in the control group only. In the murine model of Hunter syndrome, ERT exerts beneficial effects on cardiac function, which can be evaluated by serial echocardiographic evaluation including 2-dimensional strain analysis.

Keywords: Echocardiography; Enzyme replacement; Mucopolysaccharidosis; Speckle tracking; Strain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / drug therapy*
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / physiopathology
  • Disease Models, Animal
  • Echocardiography
  • Enzyme Replacement Therapy*
  • Female
  • Iduronate Sulfatase / therapeutic use*
  • Male
  • Mice
  • Mice, Knockout
  • Mucopolysaccharidosis II / complications*
  • Mucopolysaccharidosis II / drug therapy*
  • Treatment Outcome
  • Ventricular Dysfunction, Left / drug therapy

Substances

  • Iduronate Sulfatase