PHENOTYPIC AND GENETIC RISK FACTORS IN CONGENITAL CARDIOVASCULAR DISEASE

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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. The goal of this study is to define phenotype in patients with CHD followed at Children's Hospital and to identify polymorphisms in known and novel genes that may be associated with congenital cardiovascular disease. By history we will survey for environmental and non-cardiac factors which may predispose to the development of congenital heart disease and thus act as confounders in the search for disease associated polymorphisms. Primary Aim: D. I. To evaluate the genetic association between CHD and selected candidate genes. Hypotheses: We anticipate that CHD will be associated with one or more known candidate genes (such as NKX2, TBX5, etc). Additionally, novel genes may be identified not previously recognized in playing a role in the development of congenital heart disease. Secondary Aim: I. To conduct a genome-wide linkage scan in the event that there are a reasonable number of families in the sample with multiple family members affected with CHD. (This could be undertaken through either of the active Cardiovascular genetics registry protocols. It is not an anticipated event in this study.) Additionally, we will survey for environmental risk factors, including maternal preconception and prenatal risk factors, which may contribute to the development of CHD. This data is important in interpreting significance of identified polymorphisms, particularly in diseases known to be multifactorial. This data will be historical and subject to recall bias. It will not be formally analyzed in this study. Any hypotheses generated from anecdotal data of this type will require formal separate investigation designed to ensure validity.