Factors That May Lead to a Congenital Heart Defect (CHD)
What causes a congenital heart defect (CHD)?
A congenital heart defect (CHD) is a heart problem that a baby has at birth. It is
caused by abnormal formation of the heart during growth in the womb. In most cases,
when a baby is born with a congenital heart defect, there is no known reason for it.
Some types of congenital heart defects can be linked to an abnormality in the number
of a baby’s chromosomes. They may be linked to single gene defects. Or they may be
linked to environmental factors. In most cases, there is no clear cause that can be
found for the heart defect. They are often thought to be caused by many factors. The
factors are usually both genes and the environment. This means that genes from both
parents plus unknown environmental factors lead to the problem.
Maternal factors and CHDs
Most cases of congenital heart defect have no known cause. But some types of congenital
heart defects occur more often when the mother comes in contact with some types of
substances in the first few weeks of pregnancy. This is the time when the baby's heart
is growing. Some illnesses a mother may have or medicines for these illnesses can
affect the heart's growth. Other illnesses or medicines seem to have no effect on
the baby's heart. Always talk to your healthcare provider for more information.
These things can lead to a higher risk of a mother having a child with CHD:
Seizure disorder and the need to take antiseizure medicines
Taking lithium to treat depression
Having phenylketonuria (PKU) and not staying on the special PKU diet during pregnancy
Insulin-dependent diabetes, especially if blood sugar is not well-controlled
A connective tissue disorder
A pregnancy from assisted reproductive technology (ART)
Counseling is important for women with chronic illnesses before becoming pregnant.
Always talk to your healthcare provider before taking any medicines while you are
Rubella is known to cause birth defects. Rubella is a virus that most people in the
U.S. are protected from when they get the measles, mumps, and rubella (MMR) vaccine.
A woman who has never had rubella or the vaccine should talk with her healthcare provider
before becoming pregnant. A mother who has rubella during her pregnancy has a very
high chance of having a baby with birth defects, including CHD.
Family history and CHDs
About 1% of all children are born with a congenital heart defect each year. There
is an overall 3 times increased risk for CHD when a first-degree relative has a CHD.
Some heart defects have autosomal-dominant inheritance. This means that with each
pregnancy, a parent with the defect has a 50% chance to have a child with the same
heart defect. Males and females are equally affected. There is also a 50% chance that
a baby will not be affected.
Women with congenital heart defect should talk with a genetic counselor or genetic
specialist before becoming pregnant. In families with CHD in the parents or other
children, talk with your healthcare provider about fetal echocardiography. This test
can be done in the second trimester, as early as 16 weeks of pregnancy. It looks for
major heart defects in the baby.
Chromosome abnormalities and CHDs
Chromosomes are the structures in your cells that contain your genes. Genes contain
the code for your traits such as eye color and blood type. Usually, there are 46 chromosomes
in each cell of the body. Having too many or too few chromosomes leads to health problems
and birth defects. Structural defects of the chromosomes may sometimes occur. This
is when a piece of a chromosome is missing. Or it may be duplicated. These also cause
Problems with chromosomes that lead to genetic syndromes, such as Down syndrome, often
result in a higher risk of heart problems in babies. In babies with chromosome abnormalities,
around 30% will have a heart defect.
There are a number of chromosome problems linked with CHD. Some of these include:
Down syndrome (trisomy 21)
Trisomy 18 and trisomy 13
DiGeorge syndrome (22q11)
A chromosome analysis can be done from a small blood sample. The test looks for a
chromosome problem in a child with a CHD. This can show if chromosomes caused the
Single gene defects
There are about 70,000 genes on the 46 chromosomes in each cell of the body. Genes
come in pairs. In each pair, 1 gene is inherited from the mother, and the other from
the father. Genes help to control our traits. And they also may cause health problems
due to changes in the gene (mutations). When a single gene is changed, a number of
health problems may occur. When several health problems occur from 1 genetic cause,
it’s called a syndrome. Some of the genetic syndromes that have a higher rate of heart
Other genetic syndromes that are not due to a single gene defect, but are associated
with CHD. These include:
When a child is born with a CHD and may have a genetic syndrome, a provider who specializes
in genetics (clinical geneticist) may be asked to examine and test your child.
If a child has been diagnosed with a chromosomal or other genetic problem, talk with
a genetic counselor to help determine the risk for heart defects in future children.