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Molecular Basis of Congenital Heart Defects

NCT00579358 · Status: WITHDRAWN · Type: OBSERVATIONAL

Last updated 2021-01-25

No results posted yet for this study

Summary

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.

Conditions

  • Congenital Heart Defects

Sponsors & Collaborators

  • University of California, Irvine

    lead OTHER

Principal Investigators

  • Taosheng Huang, MD · University of California, Irvine

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2007-11-30
Primary Completion
2007-11-30
Completion
2007-11-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00579358 on ClinicalTrials.gov