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Dilated cardiomyopathy due to a phospholamban duplication

Published online by Cambridge University Press:  22 January 2014

Teresa M. Lee ,
Linda J. Addonizio  and
Wendy K. Chung
Teresa M. Lee
Affiliation:
Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, New York, New York, United States of America
Linda J. Addonizio
Affiliation:
Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, New York, New York, United States of America
Wendy K. Chung*
Affiliation:
Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, New York, New York, United States of America
*
Correspondence to: W. K. Chung, Department of Pediatrics, Division of Cardiology, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, New York 10032, United States of America. Tel: 212-851-5315; E-mail: wkc15@columbia.edu
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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.

Keywords

Cardiomyopathydilatedphospholamban6q22.31

Information

Type
Brief Reports
Information
Cardiology in the Young , Volume 24 , Issue 5 , October 2014 , pp. 953 - 954
Copyright
Copyright © Cambridge University Press 2014 

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