LGMD2E patients risk developing dilated cardiomyopathy

M. Fanin, P. Melacini, C. Boito, E. Pegoraro, C. Angelini

Research output: Contribution to journalArticle

51 Citations (Scopus)

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 β-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 β-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy.

Original languageEnglish
Pages (from-to)303-309
Number of pages7
JournalNeuromuscular Disorders
Volume13
Issue number4
DOIs
Publication statusPublished - May 2003

Fingerprint

Dilated Cardiomyopathy
Sarcoglycanopathies
Sarcoglycans
Cardiomyopathies
Mutation
Skeletal Muscle
Type 2E Limb-girdle muscular dystrophy
Limb-Girdle Muscular Dystrophies
Genes
Myocardium
Extremities
Biopsy

Keywords

  • Dilated cardiomyopathy
  • Gene mutations
  • Limb girdle muscular dystrophy
  • Sarcoglycan
  • Skeletal muscle

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Fanin, M., Melacini, P., Boito, C., Pegoraro, E., & Angelini, C. (2003). LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscular Disorders, 13(4), 303-309. https://doi.org/10.1016/S0960-8966(02)00280-8

LGMD2E patients risk developing dilated cardiomyopathy. / Fanin, M.; Melacini, P.; Boito, C.; Pegoraro, E.; Angelini, C.

In: Neuromuscular Disorders, Vol. 13, No. 4, 05.2003, p. 303-309.

Research output: Contribution to journalArticle

Fanin, M, Melacini, P, Boito, C, Pegoraro, E & Angelini, C 2003, 'LGMD2E patients risk developing dilated cardiomyopathy', Neuromuscular Disorders, vol. 13, no. 4, pp. 303-309. https://doi.org/10.1016/S0960-8966(02)00280-8
Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscular Disorders. 2003 May;13(4):303-309. https://doi.org/10.1016/S0960-8966(02)00280-8
Fanin, M. ; Melacini, P. ; Boito, C. ; Pegoraro, E. ; Angelini, C. / LGMD2E patients risk developing dilated cardiomyopathy. In: Neuromuscular Disorders. 2003 ; Vol. 13, No. 4. pp. 303-309.
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