Molecular Basis of Congenital Heart Defects
| Status: | Completed |
|---|---|
| Conditions: | Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/2/2016 |
| Start Date: | November 2007 |
| End Date: | November 2010 |
| Contact: | Taosheng Huang, M.D., Ph.D |
| Email: | huangts@uci.edu |
| Phone: | (949) 824-9346 |
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.
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.
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:
This is a pilot study on mutation of genes in congenital heart diseases and
genotype-phenotype correlation. Probands and family members are initially evaluated by a
local physician or at the UCI Medical Center. A clinical diagnosis is made based on clinical
information, echocardiography, EKG, and/or cardiac catheteration.
We would like to correlate the mutation the specific type of congenital heart defect. For
example, if mutations of TBX5 more likely cause atrial-septal defects, ventricular-septal
defects; mutations PTPN11 is more likely cause pulmonary stenosis.
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:
This is a pilot study on mutation of genes in congenital heart diseases and
genotype-phenotype correlation. Probands and family members are initially evaluated by a
local physician or at the UCI Medical Center. A clinical diagnosis is made based on clinical
information, echocardiography, EKG, and/or cardiac catheteration.
We would like to correlate the mutation the specific type of congenital heart defect. For
example, if mutations of TBX5 more likely cause atrial-septal defects, ventricular-septal
defects; mutations PTPN11 is more likely cause pulmonary stenosis.
Inclusion Criteria:
- 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
Exclusion Criteria:
- 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
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