The purpose of Core C is to create a centralized repository of clinical and genetic information, DNA, and cardiac tissue for patients with tetralogy of Fallot (TOF; includes TOF with either pulmonary stenosis or pulmonary atresia throughout this proposal), and to distribute these critical resources to participating SCCOR investigators to enable the component research projects. The Cardiovascular Program at Children's Hospital Boston, because of its very high clinical volume, is in a unique position to recruit large numbers of TOF patients during the grant period. The Children's Hospital-Harvard TOF Registry will include newly diagnosed infants as well as older children and adults with TOF, including those enrolled in the studies in SCCOR Projects 1 and 2. TOF patients with a family history of congenital heart disease (CHD) including TOF will be particularly sought. An electronic database will be populated with demographic information, diagnoses (cardiac, extra-cardiac, and genetic, including cytogenetics), and detailed family histories and pedigrees. DNA will be obtained from patients and parents upon enrollment in the Registry. Cardiac tissues will be collected from patients at the time of surgery and/or autopsy, as available. The distribution of patient information and materials to SCCOR investigators will be tracked in the database. The Registry patient database will be further annotated with novel genotype and phenotype data arising from the various SCCOR research projects. A future goal of the TOF Registry will be to permit discovery of clinically important genotype-phenotype correlations in TOF. Knowledge gained from the research enabled by the TOF Registry can be expected to contribute ultimately to improved prevention, detection, treatment, and outcomes for patients and families with TOF.
Showing the most recent 10 out of 43 publications
