Core--ECHOCARDIOGRAPHIC STUDIES OF VALVULAR HEART DISEASE

该SCCOR的一个主要主题是发现和阐明导致先天性心血管畸形的遗传缺陷，特别是影响瓣膜发生的遗传缺陷。核心B的目标有两个方面： 1. 确保具有特定心血管异常的患者队列的可用性，这些患者的表型已通过超声心动图得到良好表征。编目和储存 超声心动图和其他相关临床材料沿着以及先证者和父母的DNA，以便SCCOR参与者和满足隐私管理问题的其他相关方可以轻松访问这些信息。 2. 提供二叶式或双室壁主动脉瓣（BAV）（项目1）或努南综合征（NS）（项目2）先证者大家族成员的超声心动图表征。通过这些关键核心功能获得的资源将有助于鉴定新的候选基因及其基因型-表型相关性。当候选基因变得明显时，它们可以立即被SCCOR的所有参与者转移到基于机制的研究中。

A major theme of this SCCOR is discovery and elucidation of genetic defects that result in congenital cardiovascular malformations, particularly those affecting valvulogenesis. The objectives of Core B are twofold: 1. To ensure the availability of cohorts of patients with specific cardiovascular anomalies in whom phenotype has been well characterized by echocardiography. To catalogue and store echocardiographic and additional relevant clinical material along with DNA from both probands and parents so that the information is easily accessible, both by the SCCOR participants and other interested parties who satisfy the privacy governance issues that will be put in place. 2. To provide echocardiographic characterization of extended family members for probands with bicuspid or bicommisural aortic valve (BAV) (Project 1) or Noonan syndrome (NS) (Project 2). The resources obtained by these critical Core functions will facilitate identification of novel candidate genes and their genotype-phenotype correlations. As candidate genes become apparent, they can immediately be moved into mechanistically based studies by all of the SCCOR's participants.