title: Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.
abstract: BACKGROUND
  Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers.
  
  
  METHODS
  Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise stress echocardiography.
  
  
  RESULTS
  Heterozygotes demonstrated mildly lower left ventricular ejection fractions (LVEFs) at rest compared with controls (0.56 + or - 0.10 vs 0.62 + or - 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 + or - 0.14 in heterozygotes but rose to 0.73 + or - 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated > or = 1 of the following: abnormal resting LVEF, abnormal LVEF response to exercise, or exercise-induced wall motion abnormality.
  
  
  CONCLUSIONS
  Women heterozygous for dystrophinopathy demonstrate significant left ventricular systolic dysfunction, which is unmasked by exercise. This finding has mechanistic implications for both inherited and acquired cardiac disease states.
authors.affiliation: University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317-1 GH, Iowa City, IA 52242, USA. robert-weiss@uiowa.edu
authors.forename: Robert M
authors.initials: RM
authors.lastname: Weiss
authors.forename: Richard E
authors.initials: RE
authors.lastname: Kerber
authors.forename: Jane K
authors.initials: JK
authors.lastname: Jones
authors.forename: Carrie M
authors.initials: CM
authors.lastname: Stephan
authors.forename: Christina J
authors.initials: CJ
authors.lastname: Trout
authors.forename: Paul D
authors.initials: PD
authors.lastname: Lindower
authors.forename: Kimberly S
authors.initials: KS
authors.lastname: Staffey
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Campbell
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
mesh_terms: D000328:Adult; D016189:Dystrophin / Q000235:genetics*; D004452:Echocardiography; D005080:Exercise Test; D005260:Female; D006579:Heterozygote; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000235:genetics*
chemical_list: D016189:Dystrophin