Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

L. Politano, V. Nigro, L. Passamano, V. Petretta, L. I. Comi, S. Papparella, G. Nigro, P. F. Rambaldi, P. Raia, A. Pini, M. Mora, M. A M Giugliano, M. G. Esposito, G. Nigro

Research output: Contribution to journalArticlepeer-review


Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called α-, β-, γ-, δ-and ε-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in δ-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in β-, γ- and δ-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in γ- and δ-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.

Original languageEnglish
Pages (from-to)178-185
Number of pages8
JournalNeuromuscular Disorders
Issue number2
Publication statusPublished - 2001


  • Cardiac involvement
  • Respiratory involvement
  • Sarcoglycanopathy

ASJC Scopus subject areas

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


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