کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3805119 1245153 2010 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Inherited cardiac disease
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Inherited cardiac disease
چکیده انگلیسی
The advent of modern molecular genetics - fuelled by an unprecedented pace of progress in technology and the landmark publication of the Human Genome Project - has fundamentally altered our understanding of a diverse range of cardiac disorders. Accompanying benefits include the promise of better disease detection through genetic testing, the potential for more accurate disease/mutation-specific management (including risk stratification and prognostication), and a greater understanding of pathogenetic mechanisms. Ultimately, it offers the prospect of novel therapies for both Mendelian inherited single-gene cardiac disorders and the more common cardiovascular phenotypes with complex inheritance. This review focuses on an illustrative group of inherited primary cardiomyopathies (hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy) - the first cardiac disorders to be accurately delineated at the molecular genetic level - and attempts to correlate clinical manifestations with what is known about the molecular substrate.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Medicine - Volume 38, Issue 9, September 2010, Pages 496-501
نویسندگان
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