Familial restrictive cardiomyopathy with skeletal abnormalities

被引:12
作者
Schwartz, ML
Colan, SD
机构
[1] Childrens Hosp, Dept Cardiol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Dept Pediat, Boston, MA USA
关键词
D O I
10.1016/S0002-9149(03)00744-6
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A family is described in which 5 of 9 living children were found to have restrictive cardiomyopathy associated with skeletal muscle and orthopedic abnormalities. In the absence of another identifiable etiology, a genetic cause for restrictive cardiomyopathy in this family is probable: Consistent with the poor prognosis encountered for children with restrictive cardiomyopathy, 2 children in this family died, whereas a third was symptomatic by age 3 years. (C) 2003 by Excerpta Medica, Inc.
引用
收藏
页码:636 / 639
页数:4
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