Diastolic Function in Hypertrophic Cardiomyopathy

肥厚型心肌病的舒张功能

• 批准号: 6404913
• 负责人: Carolyn Y Ho
• 金额: $ 5.21万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-07-01 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6404913
• 关键词: autosomal dominant trait; echocardiography; electrocardiography; family genetics; heart contraction; human subject; hypertrophic myocardiopathy; patient oriented research; postdoctoral investigator

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in genes encoding sarcomere proteins. Myocyte hypertrophy, myofibrillar fibrosis and disarray are the pathologic hallmarks of this disease and are traditionally thought to contribute to the development of diastolic dysfunction, a characteristic feature of HCM We postulate that abnormal diastolic function in fact procedures the onset of morphologic changes, reflecting the altered contractility of mutant sarcomeres. This proposal will utilize aq genotyped population to test the hypothesis that diastolic abnormalities are the earliest manifestation of HCM and are present before the development of left ventricular hypertrophy (LVH). Detailed echocardiographic studies will be performed on genotype- positive individuals who do not yet demonstrates LVH (i.e., phenotype- negative). These examinations will include meticulous assessment of diastolic function with Doppler tissue imaging and color M-mode. Indices of diastolic function from study subjects will be compared with age-matched normal controls. Such genotype-phenotype correlations have the potential to improve our ability to risk stratify and monitor patients, and may ultimately inspire noel approaches to management.

肥厚性心肌病（HCM）是由编码肌动蛋白的基因突变引起的常染色体显性疾病。肌细胞肥大，肌原纤维纤维化和混乱是这种疾病的病理标志，传统上被认为有助于舒张功能障碍的发展，这是HCM的特征，我们假设在事实上，在事实上，这种异常的舒张功能是形态学变化的发作，反映了变形的肌电剂的变化，反映了变化的染色体的变化。该提案将利用AQ基因分型人群来检验舒张异常是HCM最早表现的假设，并且在左心室肥大（LVH）的发展之前存在。详细的超声心动图研究将对尚未证明LVH的基因型 - 阳性个体进行（即表型 - 阴性）。这些检查将包括用多普勒组织成像和颜色M模式对舒张功能的细致评估。研究受试者的舒张功能指标将与年龄匹配的正常对照组进行比较。这种基因型 - 表型相关性有可能提高我们的风险分层和监测患者的能力，并最终激发了Noel的管理方法。