Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome.
BACKGROUND
Russell-Silver Syndrome (RSS) is a genetically determined condition characterized by severe intrauterine and postnatal growth retardation; relative macrocephaly; a small, triangular face; and fifth-finger clinodactyly. The etiology of RSS involves epigenetic regulation through either uniparental disomy or genomic imprinting via DNA methylation. There has been no documented association between RSS and cardiomyopathy.


METHODS
We present an original case of a 32-year-old woman with RSS with dilated a cardiomyopathy who on cardiac biopsy showed occasional hypertrophic and atrophic myocytes with no evidence of inflammation, abnormal sarcomeres and disintegration of the Z bands on ultrastructural analysis, abnormal desmin, and normal C9 immunoreactivity.


CONCLUSIONS
This case represents the first reported association between RSS and cardiomyopathy. Given the complex mechanisms of disease etiology in RSS, this novel case provides insights into the mechanism of progressive dilated cardiomyopathy in an older individual with RSS.
The Heart Institute, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
Thomas D
TD
Ryan
Anita
A
Gupta
Divya
D
Gupta
Paula
P
Goldenberg
Michael D
MD
Taylor
Angela
A
Lorts
John L
JL
Jefferies
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000328:Adult; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D019175:DNA Methylation; D005260:Female; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D006801:Humans; D008279:Magnetic Resonance Imaging; D009206:Myocardium / Q000473:pathology* / Q000648:ultrastructure; D010641:Phenotype; D056730:Silver-Russell Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
D000319:Adrenergic beta-Antagonists; D000806:Angiotensin-Converting Enzyme Inhibitors
Cardiomyopathy; Genetics; Sarcomere