HUMAN MOLECULAR GENETICS OF DILATED CARDIOMYOPATHY

扩张型心肌病的人类分子遗传学

• 批准号: 2459906
• 负责人: Dudley Woodrow (Woody) Benson
• 金额: $ 3.53万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-07-31 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/2459906
• 关键词: cardiovascular disorder prevention; child (0-11); clinical research; congenital heart disorder; developmental genetics; family genetics; gene expression; gene mutation; genetic disorder; genetic disorder diagnosis; genetic markers; heart contraction; human subject; linkage mapping; molecular cloning; myocardium disorder

The long-term of this research is to define the genetic basis of CV diseases in young patients. The goal of this proposal is to identify the gene(s) which cause dilated cardiomyopathy that is transmitted in an autosomal dominant fashion. Cardiomyopathies are defined as "heart muscle diseases of unknown cause." Dilated cardiomyopathy is the most prevalent form of cardiomyopathy, and it is characterized by ventricular dilation with reduced systolic function. By definition, dilated cardiomyopathy is idiopathic, but recent clinical studies have demonstrated a strong genetic component in 20-30% of cases. To find the gene mutation causing dilated cardiomyopathy, l will evaluate three pedigrees using the techniques analysis candidate gene equation and positional cloning. Identification of a genetic cause of dilated cardiomyopathy will enable preclinical diagnosis in individuals at risk, will provide a pathophysiologic basis which may lead to improved therapeutic modalities or prevention, and may improve understanding of heart failure in other cardiac diseases.

本研究的长期目的是明确CV的遗传基础

项目成果

Magnetic resonance identification of the ventricular tachycardia critical isthmus: finding the needle in the haystack.

室性心动过速临界峡部的磁共振识别：大海捞针。

• DOI: 10.1016/j.jacc.2010.07.042
• 发表时间: 2011
• 期刊: Journal of the American College of Cardiology
• 影响因子: 24
• 作者: Halperin,HenryR;Nazarian,Saman
• 通讯作者: Nazarian,Saman