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Utility of gadolinium enhanced cardiovascular MRI to differentiate Fabry's disease from other causes of hypertrophic cardiomyopathy
  1. Edward T D Hoey,
  2. Ed Neil-Gallagher
  1. Department of Radiology, Heart of England NHS Trust, Heartlands hospital, Bordesley Green East, Birmingham, West Midlands, UK
  1. Correspondence to Dr Edward T D Hoey, Department of Radiology, Heart of England NHS Trust, Heartlands hospital, Bordesley Green East, Birmingham, West Midlands B9 5SS, UK; edwardhoey1{at}gmail.com

http://dx.doi.org/10.1136/postgradmedj-2011-130574

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    Fabry's disease is an X linked recessive lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase which causes an inability to catabolise glycosphingolipid.1 There is progressive accumulation of globotriaosylceramide in many organs including skin, myocardium and kidneys. The classical form of the disease affects male homozygotes and presents in adolescence with burning extremity pain (acroparaesthesia) and progressive multi-organ failure. The most common variant is …

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    Footnotes

    • Competing interests None.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.