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Case Reports
. 2014 Oct;24(5):953-4.
doi: 10.1017/S1047951113002035. Epub 2014 Jan 22.

Dilated cardiomyopathy due to a phospholamban duplication

Teresa M Lee  1 , Linda J Addonizio  1 , Wendy K Chung  2
Affiliations
Case Reports

Dilated cardiomyopathy due to a phospholamban duplication

Teresa M Lee et al. Cardiol Young. 2014 Oct.

Abstract

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.

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