Dilated cardiomyopathy due to a phospholamban duplication.
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.
1Department of Pediatrics,Division of Cardiology,Columbia University Medical Center,New York,New York,United States of America.
Teresa M
TM
Lee
1Department of Pediatrics,Division of Cardiology,Columbia University Medical Center,New York,New York,United States of America.
Linda J
LJ
Addonizio
2Department of Pediatrics,Division of Molecular Genetics,Columbia University Medical Center,New York,New York,United States of America.
Wendy K
WK
Chung
D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017403:In Situ Hybridization; D016277:Ventricular Function, Left / Q000502:physiology*; D000099211:Phospholamban
D002135:Calcium-Binding Proteins; D004247:DNA; D000099211:Phospholamban