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Congenital Heart Defects

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​​​​​​​​​​​​​​​​​​​​​​​​​​​Each year in the United States about 35,000 infants – approximately 8 in every 1,000 – are born with heart defects: problems with the heart’s structure that are present at birth.

These defects change the normal flow of blood through the heart and can involve:

  • The interior wall of the heart
  • The valves inside the heart
  • The arteries and veins that carry blood to the heart or body

The defect may be so slight the baby appears healthy for many years after birth or so severe that his/her life is in immediate danger.

Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy. 

Some defects are known to be associated with genetic disorders, such as Down syndrome, but the cause of most congenital heart defects is unknown.

Heart defects are among the most common birth defects and the leading cause of birth defect-related deaths. 

While they can't be prevented, advances in diagnosis and surgical treatment have led to dramatic increases in survival for children with serious heart defects. 

In the United States today, about 1.4 million children and adults live with congenital heart defects. Almost all are able to lead active, productive lives.

Symptoms of Heart Defects

Because congenital defects often compromise the heart's ability to pump blood and deliver oxygen to the tissues of the body, they often produce such symptoms as:

  • A bluish tinge or color (cyanosis) to the lips, tongue and/or nail beds
  • An increased rate of breathing or difficulty breathing
  • Poor appetite or difficulty feeding (which may be associated with color change)
  • Failure to thrive (weight loss or failure to gain weight)
  • Abnormal heart murmur
  • Sweating, especially during feedings
  • Diminished strength of the baby's pulse

If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist.

Causes of Heart Defects

If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, often doctors don't know why congenital heart defects occur.

Heredity may play a role in some heart defects. For instance, a parent who has a congenital heart defect may be more likely to have a child with the defect. 

Rarely, more than one child in a family is born with a heart defect. Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. 

In fact, half of all babies who have Down syndrome have congenital heart defects.

Smoking during pregnancy has also been linked to several congenital heart defects, including septal defects [the wall dividing the left and right ventricles or chambers of the heart]. Researchers continue to search for the causes of congenital heart defects.

Diagnosis of Heart Defects

Babies and children suspected of having a heart defect are usually referred to a pediatric cardiologist. 

This doctor can do a physical examination and often recommends one or more of the following tests:

  • Chest X-ray
  • Electrocardiogram – a test that records heart rate patterns
  • Echocardiogram – a special form of ultrasound that uses sound waves to take pictures of the heart

All of these tests are painless and non-invasive (nothing enters the child’s body). Some children with heart disease may also need to undergo a cardiac catheterization. 

In this procedure a child is given medication to make him/her sleepy, then a thin flexible tube is inserted into the heart. The test provides detailed information about the heart and how it is working.

Treatments:

The kind of treatment(s) you may receive depends on the severity of your condition. Possible treatments include:

  • Apical Septal Defect Closure (ASD)
  • Patent Foramen Ovale Closure (PFO)
  • Valvuloplasty
  • Heart Surgery
  • Cardiac Catheterization Procedure
  • Heart Transplant
  • Cardiac Rehabilitation

Frequently Asked Questions:

What is a congenital heart valve defect?

There are four valves in the heart and they make sure the blood flows in only one direction. A valve defect changes the normal flow of blood through the heart.

Can heart defects cause congestive heart failure?

Yes. Certain defects can cause congestive heart failure. In this condition, the heart can’t pump adequate blood to the lungs or other parts of the body causing fluid build-up. 

An affected child may experience a rapid heartbeat and difficulty breathing, especially during exercise. Infants may experience these difficulties during feeding, sometimes resulting in poor weight gain. 

Affected infants and children also may have swelling of the legs or abdomen or around the eyes.

At what age do children have surgery to repair heart defects?

Many children who need repair of heart defects undergo surgery in the first months of life. 

Previously, it was often necessary to make temporary repairs and postpone corrective surgery until later in childhood. 

Now, early corrective surgery often prevents additional complications and allows the child to live a normal life.

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 a fetus’s heart is beating too fast or too slow, 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 the baby can receive necessary evaluation and treatment soon after birth.

Are heart defects likely to recur in another pregnancy?

Parents who 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 2-3% chance of happening again. 

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 risk of recurring in another pregnancy may be much higher.

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 such defects should check with their cardiologist before becoming pregnant. 

Pregnancy can be risky for women with certain types of heart disease, including those with poorly functioning heart chambers or high blood pressure in the lungs. 

In some cases, the mother’s heart disease – or medications taken to treat it – can affect the fetus, causing poor growth, premature delivery or other problems. 

​​Some women with heart disease may need careful monitoring by a high-risk obstetrician, as well as their cardiologist, throughout pregnancy.​

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