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Dilated cardiomyopathy due to a phospholamban duplication

Published online by Cambridge University Press:  22 January 2014

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: [email protected]

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.

Type
Brief Reports
Copyright
Copyright © Cambridge University Press 2014 

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References

1. Taylor, MR, Carniel, E, Mestroni, L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis 2006; 1: 27.Google Scholar
2. Dellefave, L, McNally, EM. The genetics of dilated cardiomyopathy. Curr Opin Cardiol 2010; 25: 198204.Google Scholar
3. Medin, M, Hermida-Prieto, M, Monserrat, L, et al. Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 c>g mutation. Eur J Heart Fail 2007; 9: 3743.Google Scholar
4. Schmitt, JP, Kamisago, M, Asahi, M, et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 2003; 299: 14101413.Google Scholar
5. van der Zwaag, PA, van Rijsingen, IA, de Ruiter, R, et al. Recurrent and founder mutations in the netherlands-phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J 2013; 21: 286293.Google Scholar
6. Lakdawala, NK, Funke, BH, Baxter, S, et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail 2012; 18: 296303.Google Scholar
7. Minamisawa, S, Sato, Y, Tatsuguchi, Y, et al. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2003; 304: 14.Google Scholar