title: No evidence of cardiomyopathy in spinal and bulbar muscular atrophy.
abstract: OBJECTIVE
  Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk of heart disease.
  
  
  METHODS
  To test the hypothesis of the presence of cardiomyopathy in SBMA, a full cardiac protocol was applied to 25 SBMA patients.
  
  
  RESULTS
  Patients' age ranged between 32 and 75 years. Cardiologic examination, 12-lead ECG, and echocardiography showed no abnormalities other than those consistent with hypertensive heart disease. One patient showed frequent supraventricular premature beats in absence of other significant arrhythmias at the 24-h ECG Holter.
  
  
  CONCLUSIONS
  Our findings do not support the hypothesis of a primary cardiomyopathy in SBMA.
authors.affiliation: Department of Neurosciences, University of Padova, Padova, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Querin
authors.forename: P
authors.initials: P
authors.lastname: Melacini
authors.forename: C
authors.initials: C
authors.lastname: D'Ascenzo
authors.forename: L
authors.initials: L
authors.lastname: Morandi
authors.forename: L
authors.initials: L
authors.lastname: Mazzini
authors.forename: V
authors.initials: V
authors.lastname: Silani
authors.forename: S
authors.initials: S
authors.lastname: Romito
authors.forename: J
authors.initials: J
authors.lastname: Mandrioli
authors.forename: M
authors.initials: M
authors.lastname: Raimondi
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
authors.forename: G
authors.initials: G
authors.lastname: Soraru'
mesh_terms: D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000209:etiology*; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020966:Muscular Disorders, Atrophic / Q000150:complications* / Q000235:genetics; D011944:Receptors, Androgen / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D044465:White People
chemical_list: D011944:Receptors, Androgen
keywords: androgen receptor; heart; polyglutamine; spinal and bulbar muscular atrophy