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All of these tests are painless and noninvasive (nothing enters the child’s body). Some children with heart disease also may need to undergo a procedure called cardiac catheterization. In this procedure, a thin, flexible tube is inserted into the heart after the child is given medications to make him sleepy. This test provides detailed information about the heart and how it is working.
What causes congenital heart defects?
In most cases, scientists do not know what makes a baby's heart develop abnormally. Genetic and environmental factors appear to play roles.
Scientists are making progress in understanding the genetics of heart defects. Since the 1990s, they have identified about 10 gene mutations (changes) that can cause isolated (not accompanied by other birth defects) heart defects (3). For example, a March of Dimes grantee identified a gene that can cause a heart defect called an atrial septal defect (a hole between the upper chambers of the heart), and one that may contribute to hypoplastic left heart syndrome (underdevelopment of the heart’s main pumping chamber) (4, 5).
Environmental factors can contribute to congenital heart defects. Women who contract rubella (German measles) during the first three months of pregnancy have a high risk of having a baby with a heart defect. Other viral infections, such as the flu, also may contribute, as may exposure to certain industrial chemicals (solvents) (2). Some studies suggest that drinking alcohol or using cocaine in pregnancy may increase the risk of heart defects (2).
Certain medications increase the risk. These include (2):
Some studies suggest that first-trimester use of trimethoprim-sulfonamide (a combination of antibiotics sometimes used to treat urinary-tract infections) may increase the risk of heart defects (2).
Certain chronic illnesses in the mother, such as diabetes, may contribute to heart defects (2). However, women with diabetes can reduce their risk by making sure their blood sugar levels are well controlled before becoming pregnant.
Heart defects can be part of a wider pattern of birth defects. For example, at least 30 percent of children with chromosomal abnormalities, such as Down syndrome (intellectual disabilities and physical birth defects) and Turner syndrome (short stature and lack of sexual development), have heart defects (3). Children with Down syndrome, Turner syndrome and certain other chromosomal abnormalities should be routinely evaluated for heart defects.
Heart defects also are common in children with a variety of inherited disorders, including Noonan syndrome (short stature, learning disabilities), velocardiofacial syndrome (craniofacial defects and immune deficiencies), Holt-Oram syndrome (limb defects) and Alagille syndrome (liver, skeletal and eye defects) (3).
What are some of the most common heart defects, and how are they treated?
At what age do children have surgery to repair heart defects?
Many children who require surgical repair of heart defects now undergo surgery in the first months of life. Until recently, it was often necessary to make temporary repairs and postpone corrective surgery until later in childhood. Now, early corrective surgery often prevents development of additional complications and allows the child to live a normal life.
Following surgery, children should have periodic heart checkups with a cardiologist. Children and adults with certain heart defects, even after surgical repair, remain at increased risk of infection involving the heart and its valves. Parents of children with heart defects and adults with repaired heart defects should discuss with their provider whether they need to take antibiotics before dental visits and other procedures to prevent these infections. Antibiotic treatment is recommended only for those considered at highest risk for infection, including those with man-made heart valves (7).
Is there a prenatal test for congenital heart defects?
Echocardiography can be used before birth to accurately identify many heart defects. If this test shows that a fetus’s heart is beating too fast or too slowly (called an arrhythmia), the mother can be treated with medications that may restore a normal heart rhythm in the fetus. This treatment often prevents fetal heart failure. In other cases, where the heart defect can't be treated before birth, parents and providers can plan the delivery so that the baby can receive necessary evaluation and treatment soon after birth.
Can congenital heart defects be prevented?
Most congenital heart defects cannot be prevented. However, there are some steps a woman can take before and during pregnancy that may help reduce the risk of having a baby with a heart defect:
Are heart defects likely to recur in another pregnancy?
Parents who have already had a child with a heart defect do have an increased risk of having other affected children, often with the same heart defect. In many cases, the risk is low. Some heart defects have about a 2 to 3 percent chance of happening again (8). However, the risk may differ, depending on the specific heart defect. If a child’s heart defect is part of a syndrome of other birth defects, the recurrence risk in another pregnancy may be much higher.
Parents who have had a child with a heart defect should consult their pediatric cardiologist and can consult a genetic counselor to find out the risks to any future children. Parents who themselves have a heart defect also are at increased risk of having an affected child and should consider consulting a genetic counselor.
Is pregnancy safe for women with heart defects?
Many women with congenital heart defects can safely become pregnant and have healthy babies. However, women with congenital heart defects always should check with their cardiologist before they become pregnant. Pregnancy can be risky for women with certain types of heart disease (including those with poorly functioning ventricles or high blood pressure in the lungs) (9).
In some cases, the mother’s heart disease or the medications she takes to treat it can affect the fetus, causing poor growth, premature delivery or other problems (9). Some women with heart disease may need careful monitoring by a high-risk obstetrician, as well as their cardiologist, throughout pregnancy.
Does the March of Dimes support research on congenital heart defects?
A number of scientists funded by the March of Dimes are studying genes that may underlie specific heart defects or seeking to identify new genes that may cause heart defects. The goal of this research is to better understand the causes of congenital heart defects, in order to develop ways to prevent them. Grantees also are looking at how environmental factors (such as a form of vitamin A called retinoic acid) may contribute to congenital heart defects. One grantee is seeking to understand why some babies with serious heart defects develop brain injuries, in order to learn how to prevent and treat them.
For additional information on congenital heart defects:
References
May 2008
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