Cardiac structure and function in female carriers of a canine model of Duchenne muscular dystrophy

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 c...

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Bibliographic Details
Published in:Research in veterinary science 2013-06, Vol.94 (3), p.610-617
Main Authors: Kane, A.M., DeFrancesco, T.C., Boyle, M.C., Malarkey, D.E., Ritchey, J.W., Atkins, C.E., Cullen, J.M., Kornegay, J.N., Keene, B.W.
Format: Article
Language:English
Subjects:
Animals
Cardiology
Cardiomyopathy
Carrier
Disease Models, Animal
Dog Diseases - genetics
Dog Diseases - pathology
Dog Diseases - physiopathology
Dogs
Duchenne muscular dystrophy
dystrophin
echocardiography
Echocardiography - veterinary
Electrocardiography
Electrocardiography - veterinary
Electrocardiography, Ambulatory - veterinary
Female
fibrosis
Golden Retriever
GRMD
Heart
Heart - physiopathology
Heterozygote
immunohistochemistry
inflammation
mineralization
monitoring
Muscular dystrophy
Muscular Dystrophy, Animal - genetics
Muscular Dystrophy, Animal - pathology
Muscular Dystrophy, Animal - physiopathology
Myocardium - pathology
necropsy
necrosis
Veterinary medicine
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Summary: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 3years of age could not be distinguished statistically from normal controls by echocardiography or 24-h Holter monitoring.
ISSN:0034-5288
1532-2661
DOI:10.1016/j.rvsc.2012.09.027