Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies

被引:45
|
作者
Nolan, MA
Jones, ODH
Pedersen, RL
Johnston, HM
机构
[1] Sydney Childrens Hosp, Dept Neurol, Randwick, NSW 2031, Australia
[2] Sydney Childrens Hosp, Dept Cardiol, Randwick, NSW 2031, Australia
[3] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW 2031, Australia
关键词
muscular dystrophies; dystrophinopathy; cardiac abnormalities; carriers; children;
D O I
10.1016/S0960-8966(02)00197-9
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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. (C) 2002 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:129 / 132
页数:4
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