Dilated Cardiomyopathy in a 32-Year-Old Woman With Russell-Silver Syndrome
Document Type
Article
Publication Date
1-1-2014
Description
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.
Citation Information
Ryan, Thomas D.; Gupta, Anita; Gupta, Divya; Goldenberg, Paula; Taylor, Michael D.; Lorts, Angela; and Jefferies, John L.. 2014. Dilated Cardiomyopathy in a 32-Year-Old Woman With Russell-Silver Syndrome. Cardiovascular Pathology. Vol.23(1). 21-27. https://doi.org/10.1016/j.carpath.2013.08.004 PMID: 24075556 ISSN: 1054-8807