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Genetic and Nutritional Causes of Heart Birth Defects

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: August 24, 2006
Last updated: July 28, 2016
Last verified: December 2007
Each year in the United States, thousands of babies are born with heart defects. Women who take folic acid during pregnancy have a lower risk of giving birth to infants with heart defects, but the reason for this remains unknown. This study will examine the relationship between genes, nutrition, and the occurrence of heart defects in infants.

Heart Defects, Congenital

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Gene and Nutrient Etiologies of Human Heart Defects

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Biospecimen Retention:   Samples With DNA
Buccal cell collection

Enrollment: 1610
Study Start Date: July 2006
Study Completion Date: December 2006
Detailed Description:

Congenital heart defects are the most common type of birth defect; each year, more than 30,000 babies in the United States are born with this kind of abnormality. Conotruncal heart defects, considered to be a very serious type of defect, involve a structural abnormality in the chambers of the heart or blood vessels that lead to and from the heart. Infants born with conotruncal defects must undergo complex open heart surgery, and there is a high fatality rate. Folic acid supplementation during pregnancy has been shown to reduce the risk of conotruncal defects. However, some women who take folic acid during pregnancy still give birth to infants with conotruncal defects. Specific genes may influence the way individuals metabolize folic acid, and variations in these genes may make some infants more prone to developing heart defects. This study will examine the relationship between genes, maternal nutritional intake, and conotruncal heart defects. The results from this study may help to determine genetic and nutritional causes of congenital heart defects.

This study will use previously collected data on 550 infants born with conotruncal defects and 1060 infants born without heart defects. There will be no study visits specifically for this study. Infant DNA will be analyzed for genes that may play a role in folate metabolic pathways. Blood previously collected from the mothers during pregnancy will be analyzed for differences in nutrient intake. Specifically, levels of folic acid, choline, vitamin B12, and methionine will be examined.


Ages Eligible for Study:   up to 12 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Mothers of babies with heart defects and mothers of babies without any malformation.

Inclusion Criteria:

  • Conotruncal heart defect

Exclusion Criteria:

  • If part of control group, must not have heart defect
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00368732

United States, California
California Birth Defects Monitoring Program
Berkeley, California, United States, 94710
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Gary M. Shaw, DrPH California Birth Defects Monitoring Program
  More Information

Additional Information:
Responsible Party: Gary M. Shaw, DrPH, California Birth Defects Monitoring Program Identifier: NCT00368732     History of Changes
Other Study ID Numbers: 1352
R01HL085859 ( US NIH Grant/Contract Award Number )
Study First Received: August 24, 2006
Last Updated: July 28, 2016

Keywords provided by National Heart, Lung, and Blood Institute (NHLBI):
Congenital Heart Defects

Additional relevant MeSH terms:
Congenital Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases processed this record on May 25, 2017