LGMD2E patients risk developing dilated cardiomyopathy

Neuromuscul Disord. 2003 May;13(4):303-9. doi: 10.1016/s0960-8966(02)00280-8.

Abstract

Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy. We studied six patients with beta-sarcoglycanopathy. Immunohistochemical and immunoblot analysis performed on skeletal muscle biopsies from five patients, showed the loss of all sarcoglycans in three cases and marked reduction in two patients. Non-invasive cardiac examinations revealed that three patients had cardiac involvement: one had a severe Duchenne-like dystrophy, lethal dilated cardiomyopathy, and shared the same mutation reported in another cardiomyopathic patient; the other two patients had limb-girdle dystrophy and moderate cardiac involvement (one of them has a novel gene mutation). Given the age profile of the patients studied, the 50% cardiac involvement found in our LGMD2E patients is likely to be a conservative estimate. Careful cardiac monitoring should be carried out in beta-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Blotting, Western
  • Cardiomyopathy, Dilated / etiology*
  • Cardiomyopathy, Dilated / metabolism
  • Child
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Dystroglycans
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism*
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / metabolism
  • Mutation
  • Reverse Transcriptase Polymerase Chain Reaction
  • Risk Factors
  • Severity of Illness Index

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Membrane Glycoproteins
  • Dystroglycans