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

CORE C的目的是为法洛四联症(TOF；在整个提案中包括伴有肺动脉狭窄或肺闭锁的TOF)患者创建一个临床和遗传信息、DNA和心脏组织的中央存储库，并将这些关键资源分配给参与SCCOR的研究人员，以支持组成部分研究项目。波士顿儿童医院的心血管计划，由于其非常高的临床量，在赠款期间招募大量TOF患者处于独特的地位。儿童医院-哈佛TOF登记将包括新诊断的婴儿以及患有TOF的较大儿童和成人，包括那些在SCCOR项目1和2中登记的研究。有先天性心脏病(包括TOF)家族史的TOF患者将被 特别受追捧。电子数据库将填充人口统计信息、诊断(心脏、心脏外和遗传，包括细胞遗传学)，以及详细的家族史和家谱。在登记处登记后，将从患者和父母那里获取DNA。心脏组织将在手术和/或尸检时收集。向SCCOR调查人员分发患者信息和材料的情况将在数据库中进行跟踪。注册患者数据库将进一步使用来自各种SCCOR研究项目的新的基因和表型数据进行注释。TOF注册的未来目标将是允许在TOF中发现临床上重要的基因-表型相关性。从TOF登记处支持的研究中获得的知识 预计最终将有助于改善TOF患者和家属的预防、检测、治疗和预后。

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.