Genetic and Nutritional Causes of Heart Birth Defects

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.

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Key information

Conditions

Heart Defects, Congenital Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Heart Diseases

Age range

Up to 12 month

Sex eligibility

All sexes

Study type

Observational

Primary location

California Birth Defects Monitoring Program

Berkeley, California, 94710, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Conotruncal heart defect

Exclusion criteria

If part of control group, must not have heart defect

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Official study title

Gene and Nutrient Etiologies of Human Heart Defects

Important dates

Study start: 2006
Study completion: 2006
First posted: Aug 25, 2006
Registry last updated: Jul 29, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed