title: Cardiac and pulmonary investigations in Bethlem myopathy.
abstract: BACKGROUND
  Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement.
  
  
  OBJECTIVE
  To investigate cardiac and respiratory involvement in Bethlem myopathy.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  University hospitals. Patients Fifty patients with Bethlem myopathy from 26 families.
  
  
  METHODS
  Cardiac examinations, including electrocardiography and echocardiography (n = 37) and pulmonary investigations (n = 43). Holter monitoring was performed in 16 patients.
  
  
  METHODS
  Cardiac and respiratory abnormalities.
  
  
  RESULTS
  Several cardiac abnormalities were found that were considered unrelated to the muscular disorder. Seven (16%) of 43 patients had a forced vital capacity less than 70% of the predicted value. One of 2 patients with a forced vital capacity less than 50% was also receiving respiratory support. All patients with compromised respiratory function were still ambulatory, and we found no significant correlation between the severity of arm weakness and the severity of respiratory muscle involvement.
  
  
  CONCLUSIONS
  There is no evidence of cardiac involvement in Bethlem myopathy. Respiratory failure is part of the clinical spectrum and can occur in ambulatory patients.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands. a.j.kooi@amc.uva.nl
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: Willem G
authors.initials: WG
authors.lastname: de Voogt
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: F Beril
authors.initials: FB
authors.lastname: Talim
authors.forename: Rabah
authors.initials: R
authors.lastname: Ben Yaou
authors.forename: Andoni
authors.initials: A
authors.lastname: Urtziberea
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000209:etiology* / Q000473:pathology; D003430:Cross-Sectional Studies; D004452:Echocardiography / Q000379:methods; D004562:Electrocardiography / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000150:complications* / Q000473:pathology; D012129:Respiratory Function Tests; D012132:Respiratory Muscles / Q000473:pathology / Q000503:physiopathology*