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

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• 作者：Thomas D. Ryan ; Anita Gupta ; Divya Gupta ; Paula Goldenberg ; Michael D. Taylor ; Angela Lorts ; John L. Jefferies
• 关键词：Cardiomyopathy ; Genetics ; Sarcomere
• 刊名：Cardiovascular Pathology
• 出版年：January-February, 2014
• 年：2014
• 卷：23
• 期：1
• 页码：21-27
• 全文大小：3408 K

文摘

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.