CORE C--Children's Hospital-Harvard Tetralogy of Fallot Re

核心C的目的是为法洛四联症（TOF;包括本提案中的肺动脉狭窄或肺动脉闭锁TOF）患者创建临床和遗传信息、DNA和心脏组织的集中存储库，并将这些关键资源分发给参与的SCCOR研究者，以支持组成研究项目。波士顿儿童医院的心血管项目，由于其非常高的临床量，在资助期间招募大量TOF患者的独特地位。儿童医院-哈佛TOF登记将包括新诊断的婴儿以及年龄较大的儿童和TOF成人，包括参加SCCOR项目1和2研究的儿童。有先天性心脏病（CHD）家族史（包括TOF）的TOF患者， 特别是寻求。电子数据库将填充人口统计学信息、诊断（心脏、心外和遗传，包括细胞遗传学）以及详细的家族史和谱系。将在登记研究入组时从患者和父母处获得DNA。将在手术和/或尸检时采集患者的心脏组织（如可用）。将在数据库中跟踪向SCCOR研究者分发的患者信息和材料。登记研究患者数据库将进一步注释来自各种SCCOR研究项目的新基因型和表型数据。TOF登记研究的未来目标是发现TOF中具有临床意义的基因型-表型相关性。从TOF登记系统支持的研究中获得的知识 可以预期最终有助于改善TOF患者和家庭的预防、检测、治疗和结局。

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.