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

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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.