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.
Publication types
-
Case Reports
-
Research Support, N.I.H., Extramural
MeSH terms
-
Calcium-Binding Proteins / genetics*
-
Calcium-Binding Proteins / metabolism
-
Cardiomyopathy, Dilated / diagnosis
-
Cardiomyopathy, Dilated / genetics*
-
Cardiomyopathy, Dilated / physiopathology
-
Child, Preschool
-
DNA / genetics*
-
DNA Mutational Analysis
-
Female
-
Gene Duplication*
-
Humans
-
In Situ Hybridization
-
Ventricular Function, Left / physiology*
Substances
-
Calcium-Binding Proteins
-
phospholamban
-
DNA