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Dilated cardiomyopathy due to a phospholamban duplication
Teresa M. Lee, Linda J. Addonizio, Wendy K. Chung
Journal:

Cardiology in the Young / Volume 24 / Issue 5 / October 2014

Published online by Cambridge University Press:

22 January 2014, pp. 953-954
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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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Dilated cardiomyopathy due to a phospholamban duplication