GENETICS OF PATENT FORAMEN OVALE&ATRIAL SEPTAL ANEURYSM:EVAL MUTATION NKX2-5GENE

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。本研究旨在评估一种称为卵圆孔未闭（PFO）的疾病。PFO是心脏顶部两个腔室之间的小连接或孔，存在于高达30%的人群中。大多数人没有与PFO相关的问题。一小部分人可能有与PFO相关的问题，如中风或轻微中风。我们感兴趣的是确定卵圆孔未闭（PFO）是否在家庭中运行（遗传）。为了确定PFO是否遗传，我们需要评估已知患有这种疾病的患者的家庭成员。我们还需要将PFO患者的家庭与基因无关的个体（如配偶）进行比较。 这项研究的目的是双重的：首先，我们想看看PFO是否在家庭中运行。我们将通过心脏超声对PFO患者的家庭成员进行评估。这有助于我们了解家庭成员是否也有PFO。将搅拌的盐水（微泡）注入IV中。观察微气泡是否穿过心脏顶部两个腔室的通道（提示PFO）。我们将这些结果与基因无关的个体（如他们的配偶）的超声波进行比较。第二个目的是检测一个或多个可能与PFO发生有关的基因异常。将从研究参与者的血液样本中收集DNA，并用于查看这些基因中的一个或多个。 将要求最多200名当地受试者参加本研究。将要求受试者前往大学医院综合临床研究中心（GCRC）进行一次研究访视。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study is designed to evaluate a condition known as a patent foramen ovale (PFO). A PFO is a small connection or hole between the top two chambers of the heart that is present in up to 30% of the population. Most people don't have problems related to PFO. A small minority of people may have problems related to a PFO such as strokes or mini-strokes. We are interested in determining if patent foramen ovale (PFO) runs in families (is inherited). In order to determine if PFO is inherited we need to evaluate family members of patients known to have the condition. We also need to compare families of people with PFO to genetically unrelated individuals (such as spouses). The aim of this study is two-fold: First, we want to see if PFO runs in families. We will evaluate family members of patients with PFO with an ultrasound of the heart. This helps us to see if family members might also have a PFO. Agitated saline (micro-bubbles) is injected into an IV. The micro-bubbles are watched to see if they travel across a channel through the top two chambers of your heart (suggesting a PFO). We will compare these results to ultrasounds of genetically unrelated individuals (such as their spouses). The second aim is to test for one or more gene abnormalities that might be related to the development of PFO. DNA will be collected from a blood sample of the study participants and used to look at one or more of these genes. Up to 200 local subjects will be asked to participate in this study. Subjects will be asked to come to the University Hospital General Clinical Research Center (GCRC) for one study visit.