Dilated cardiomyopathy due to a phospholamban duplication

被引：4
|
作者：
Lee, Teresa M. [1 ]
Addonizio, Linda J. [1 ]
Chung, Wendy K. [2 ]
机构：
[1] Columbia Univ, Med Ctr, Div Cardiol, Dept Pediat, New York, NY 10032 USA
[2] Columbia Univ, Med Ctr, Div Mol Genet, Dept Pediat, New York, NY 10032 USA
来源：
CARDIOLOGY IN THE YOUNG | 2014年 / 24卷 / 05期
关键词：
Cardiomyopathy; dilated; phospholamban; 6q22.31; MUTATION;
D O I：
10.1017/S1047951113002035
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Dilated cardiomyopathy is characterised by dilation and impaired systolic function. We present the case of a child with dilated cardiomyopathy caused by a 624 kb duplication of 6q22.31, which includes the phospholamban gene. The patient also has failure to thrive and developmental delay due to complex cytogenetic abnormalities including a 5p15 deletion associated with Cri du Chat and an 11p15 duplication associated with Russell-Silver syndrome.
引用
收藏
页码：953 / 954
页数：2
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