کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2898718 1173095 2014 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Dilated cardiomyopathy in a 32-year-old woman with Russell–Silver syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Dilated cardiomyopathy in a 32-year-old woman with Russell–Silver syndrome
چکیده انگلیسی

IntroductionRussell–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.MethodsWe 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.ConclusionThis 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cardiovascular Pathology - Volume 23, Issue 1, January–February 2014, Pages 21–27
نویسندگان
, , , , , , ,