Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

P. Melacini, M. Fanin, D. J. Duggan, M. P. Freda, A. Berardinelli, G. A. Danieli, A. Barchitta, E. P. Hoffman, S. Dalla Volta, C. Angelini

Research output: Contribution to journalArticlepeer-review


Mutations in the sarcoglycan genes cause autosomal-recessive muscular dystrophies. Because sarcoglycan genes and their protein products are highly expressed both in skeletal and cardiac muscle, patients with these mutations might be expected to be at risk to develop dilated cardiomyopathy. We therefore studied 13 patients with α, β, γ-sarcoglycan gene mutations by thorough cardiological assessment. Electrocardiographic or echocardiographic abnormalities were observed in about 30% of cases showing a severe course of muscular dystrophy. No correlation was found between the presence of cardiac abnormalities and the type of mutation or sarcoglycan gene involved. The cardiac involvement was never severe, but it may be detected in early stages of the muscle disease. The absence of overt cardiac dysfunction may be due to lower sarcoglycan protein expression in cardiac than skeletal muscle or to less sarcolemmal instability at the myocardial level, possibly related to the different distribution of forces generated by contraction of the myocardium with respect to proximal limb-girdle muscles.

Original languageEnglish
Pages (from-to)473-479
Number of pages7
JournalMuscle and Nerve
Issue number4
Publication statusPublished - 1999


  • Cardiomyopathy
  • Muscular dystrophy
  • Sarcoglycan

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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