title: Cardiac structure and function in female carriers of a canine model of Duchenne muscular dystrophy.
abstract: This investigation tested the hypothesis that carriers of golden retriever muscular dystrophy (GRMD), a genetically homologous condition of Duchenne muscular dystrophy (DMD), have quantifiable abnormalities in myocardial function, structure, or cardiac rhythm. Eleven GRMD carriers and four matched controls had cardiac evaluations and postmortem examinations. 24-h ECG Holter monitoring disclosed ventricular ectopy in 10 of 11 carriers and 2 of 4 controls. Conventional echocardiography failed to demonstrate significant differences between carriers and controls in systolic function. All carriers had multifocal, minimal to marked myofiber necrosis, fibrosis, mineralization, inflammation, and/or fatty change in their hearts. Immunohistochemistry revealed a mosaic dystrophin deficiency in scattered cardiac myofibers in all carriers. No controls had cardiac histologic lesions; all had uniform dystrophin staining. Despite cardiac mosaic dystrophin expression and degenerative cardiac lesions, GRMD carriers at up to 3 years of age could not be distinguished statistically from normal controls by echocardiography or 24-h Holter monitoring.
authors.affiliation: Angell Animal Medical Center, 350 South Huntington Ave, Jamaica Plain, MA 02130, United States.
authors.forename: A M
authors.initials: AM
authors.lastname: Kane
authors.forename: T C
authors.initials: TC
authors.lastname: DeFrancesco
authors.forename: M C
authors.initials: MC
authors.lastname: Boyle
authors.forename: D E
authors.initials: DE
authors.lastname: Malarkey
authors.forename: J W
authors.initials: JW
authors.lastname: Ritchey
authors.forename: C E
authors.initials: CE
authors.lastname: Atkins
authors.forename: J M
authors.initials: JM
authors.lastname: Cullen
authors.forename: J N
authors.initials: JN
authors.lastname: Kornegay
authors.forename: B W
authors.initials: BW
authors.lastname: Keene
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D004285:Dogs; D004452:Echocardiography / Q000662:veterinary; D004562:Electrocardiography / Q000662:veterinary; D015716:Electrocardiography, Ambulatory / Q000662:veterinary; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006579:Heterozygote; D009137:Muscular Dystrophy, Animal / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009206:Myocardium / Q000473:pathology*