کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2973915 | 1578470 | 2013 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Bardet–Biedl syndrome presenting as dilated cardiomyopathy
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
The Bardet–Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. BBS presents with varied clinical manifestations like retinitis pigmentosa, post axial polydactyly, central obesity, learning disability and menstrual irregularities (secondary amenorrhoea). Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. BBS presenting as dilated cardiomyopathy in young individuals is a rare manifestation. In one case series of 109 BBS patients reported recently, 8 cases had cardiac involvement with only two of them having cardiomyopathy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Indian College of Cardiology - Volume 3, Issue 3, September 2013, Pages 134–138
Journal: Journal of Indian College of Cardiology - Volume 3, Issue 3, September 2013, Pages 134–138
نویسندگان
D.J.K. Chakravarthy, Y.S. Sarma, M. Sriharibabu, K. Subhramanyam, T. Sivakumar, K. Chandrakanth,