Molecular Basis of Congenital Heart Defects
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 1
研究概览
简要总结
Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantially to pediatric mortality and morbidity. Recent advances in genetics suggest that many congenital heart defects are caused by mutation of genes. So far, half a dozen genes are found to be associated with congenital heart diseases, such as TBX5, NKX2.5, and GATA4, to name a few. In the near future, more genes will be identified.
This study will evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation. The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases. The study will provide substantial information to understand how the human heart develops. In the future, prenatal diagnosis could be developed based on this study.
详细描述
Purpose:
The purpose of this study is to evaluate the role of mutation of genes in congenital heart diseases and study the genotype-phenotype correlation.
Hypothesis:
The central hypothesis is that a significant percentage of congenital heart disease is caused by mutation of genes involved in heart development, and the phenotype with missensed mutations is milder than nonsense mutation. Another hypothesis is that a significant proportion of patients with cardiac malformations will have mutations in their genes. The specific aim is to test the mutations of these genes in patients with congenital heart diseases.
Study Design and Procedures:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adults and children (both parent's signature required) who are able to give informed consent
- •Adults or children who are prior diagnosed with congenital heart disease and/or who has immediate family member(s) with congenital heart disease (immediate family members include: subject's parents, siblings, and subject's children)
- •If subject is the only one affected and subject does not disclose of any family member being affected, than only subject will be enrolled
- •If subject is affected and disclose that a family member is affected, that family member will be contacted (with permission) to participate in the study
- •Patients of all ethnical origin
排除标准
- •Patients diagnosed with no congenital heart disease (as determined by their medical assessment); (if subjects who are unaffected disclose that a family member is affected, with permission, that family will be contacted for participation)
- •Patients who are unable to provide informed consent/assent