Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies

Cardiac disease in adult female carriers of the X-linked dystrophinopathies, Duchenne and Becker muscular dystrophies, is a well-recognised entity. A single study has reported a 15% incidence of cardiac abnormalities in female carriers under 16 years. Our study aims, clinically and with electrocardi...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2003-02, Vol.13 (2), p.129-132
Main Authors: Nolan, M.A., Jones, O.D.H., Pedersen, R.L., Johnston, H.M.
Format: Article
Language:English
Subjects:
Adolescent
Cardiac abnormalities
Carriers
Child
Children
Chromosomes, Human, X
Cross-Sectional Studies
Dystrophinopathy
Echocardiography - methods
Electroencephalography - methods
Female
Heart - physiopathology
Heterozygote
Humans
Muscular dystrophies
Muscular Dystrophy, Duchenne - genetics
Muscular Dystrophy, Duchenne - physiopathology
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Summary:Cardiac disease in adult female carriers of the X-linked dystrophinopathies, Duchenne and Becker muscular dystrophies, is a well-recognised entity. A single study has reported a 15% incidence of cardiac abnormalities in female carriers under 16 years. Our study aims, clinically and with electrocardiograph and echocardiograph, to determine the incidence of cardiac abnormality in young girls who are proven carriers of X-linked dystrophinopathies. Twenty-three girls aged 6.2–15.9 years were assessed. All had normal cardiac examination. None had electrocardiograph abnormalities consistent with dystrophic cardiomyopathy. Left ventricular fractional shortening ranged from 33 to 55% (normal>28%). Septal thickness, posterior wall thickness and wall thickness ratio were within normal limits. No cardiac abnormalities have been demonstrated in young girls who are proven carriers of X-linked dystrophinopathies in our study. This has important implications for planning timing of carrier determination and cardiac assessment.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(02)00197-9