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Congenital Heart Disease

Congenital heart disease refers to problems with how a baby's heart forms. "Congenital" means that the heart problem has been present since birth.

There are many different types of congenital heart problems. They can be fairly simple, such as a hole between the chambers of the heart or a heart valve that has not formed right. Others are more serious and complex, such as a missing heart valve or heart chamber.

Most problems affect how blood flows through the heart or through the blood vessels near the heart. Some problems may cause blood to flow in a pattern that isn't normal. Others can completely or partially block blood flow.

Some problems are discovered in the fetus during pregnancy. Others aren't found until birth. Still others may not be discovered until a child gets older or even until a child is an adult.

What are the symptoms of congenital heart disease in children?

Congenital heart disease causes a wide range of symptoms. Symptoms will depend on what problem your baby has. Babies with congenital heart disease may have one or more of these symptoms:

  • Tiring quickly.
  • Trouble breathing when the baby feeds or cries.
  • Breathing fast during rest or activities.
  • Puffiness or swelling of the skin, often around the eyes and in the hands and feet.
  • Sweating easily, especially on the head.
  • Not gaining weight as they should.
  • Fainting or near-fainting spells, especially related to physical activity.
  • Having strong-smelling urine or other signs of dehydration.
  • Having a bluish tint to the skin, lips, and fingernails that gets worse when the baby cries or eats.
  • Growing or developing more slowly than expected. Your baby may be shorter or take longer to learn skills.

In some cases, a child's congenital heart disease may be so mild that symptoms won't appear until the child is a teenager or young adult.

What causes congenital heart disease?

In most cases, the cause of congenital heart disease isn't known. But genes passed down from a parent are a possible cause. Viral infections also may play a role. Taking some prescription or other medicines during pregnancy may cause congenital heart disease.

How is congenital heart disease diagnosed in children?

Testing for congenital heart disease can be done during pregnancy or after a baby's birth. In many cases, congenital heart disease is found at birth or during a baby's first few months.

Tests during pregnancy

A fetal echocardiogram is the best test before a baby's birth. The test uses sound waves to take pictures of the baby's heart. The fetal echocardiogram may be done if:

  • A parent has congenital heart disease.
  • The baby may have been exposed to certain chemicals during pregnancy.
  • The parent has taken medicines during pregnancy that may increase the baby's risk of developing heart problems.
  • Other exams or tests show signs that a baby may have a problem related to the heart's structure.

Tests after a baby is born

A newborn screening test may find a heart problem. The test is called an oximetry test. It checks the oxygen level in the blood.

Congenital heart disease can also be found in the first month after a baby is born. Your doctor may take a medical history, do a physical exam, and ask about the baby's symptoms, appetite, and other habits. Your baby will get other tests to find a heart problem.

Not all problems are found when a child is very young. Some problems don't cause symptoms and aren't life-threatening. These problems may not be found until the teen years or later.

Tests that can help diagnose a heart problem include:

  • Echocardiogram. The doctor may use this test to see how blood flows through your child's heart and to look at the valves, thickness, and shape of the heart.
  • Cardiac catheterization. This test measures blood pressure in the heart and heart arteries. It can also show how well the heart is pumping.

More tests may be needed, depending on the symptoms and type of problem. These may include:

  • Chest X-ray. This is to check the size and blood vessels of the heart.
  • Electrocardiogram (ECG, EKG). This test checks for irregular heart rhythms (arrhythmias) that may be related to congenital heart disease.
  • Blood tests. These check for anemia, polycythemia, or levels of certain chemicals in the blood.
  • Oximetry. This is to see whether oxygen-poor blood is being pumped to the body. The amount of oxygen in the blood can also be measured by an arterial blood gas (ABG).
  • CT scan or MRI of the heart and major blood vessels. This is to view abnormal heart structures and/or blood vessels. During these tests, your child will probably be given medicine to help your child relax and sleep.
How is congenital heart disease treated in children?

Treatment is based on the type of problem. Some types of congenital heart disease get better on their own and may not need treatment. Your child's age, size, and general health also are important.

A child may need:

  • Medicines. Medicine may be used to help treat certain types of congenital heart disease, help relieve symptoms, or prevent other problems.
  • Cardiac catheterization. The doctor threads a thin, flexible tube (catheter) through a blood vessel—typically in the groin—and into the heart. Some problems can be repaired using this procedure.
  • Surgery to repair the problem. A baby with a large or complex problem may need one or more heart surgeries.

Your child will also need regular visits to a pediatric cardiologist.

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