Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome

Thomas D. Ryan, Anita Gupta, Divya Gupta, Paula Goldenberg, Michael D. Taylor, Angela Lorts, John L. Jefferies*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Introduction 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. Conclusion 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.

Original languageEnglish (US)
Pages (from-to)21-27
Number of pages7
JournalCardiovascular Pathology
Issue number1
StatePublished - Jan 2014
Externally publishedYes


  • Cardiomyopathy
  • Genetics
  • Sarcomere

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine


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