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Congenital Heart Defects

Reviewed by: Steven Dowshen, MD

What Is a Heart Defect?

A heart defect is a problem in the heart's structure. Kids who have a heart defect were born with it (heart defects are often called "congenital," which means "present at birth"). They're one of the most common birth defects.

These defects happen when there's a problem with the development of the baby's heart early in a woman's pregnancy. Heart defects can range from mild to severe.

What Causes Heart Defects?

Some heart defects are associated with genetic disorders, such as Down syndrome. Things like uncontrolled diabetes, alcohol or drug abuse, genes, and exposure to industrial chemicals also can affect how a baby's heart forms during the first 8 to 9 weeks of pregnancy. But the cause of most heart defects isn't known.

These defects can't be prevented, but many treatments are available for them and the health problems they can cause.

What Are the Types of Heart Defects?

Heart defects are also sometimes referred to as "congenital heart disease." Types of congenital heart defects include:

What Are the Signs & Symptoms of a Heart Defect?

Congenital heart defects often affect the heart's ability to pump blood and to deliver oxygen to the tissues of the body. So they can cause such telltale signs as:

  • a bluish tinge or color (cyanosis) to the lips, tongue, and/or nailbeds
  • breathing very fast or trouble breathing
  • poor appetite or difficulty feeding
  • sweating, especially during feedings
  • failure to thrive (weight loss or failure to gain weight)
  • decreased energy or activity level
  • a lasting or unexplained fever
  • a weaker pulse

If you notice any of these signs in your baby or child, call your doctor right away. Your doctor may refer you to a pediatric cardiologist (a doctor who specializes in treating children's heart problems).

How Are Heart Defects Diagnosed?

Before Birth

Many heart defects are found during prenatal tests like a fetal echocardiogram. This special type of ultrasound lets doctors find heart problems before birth. It can be done as early as 16–18 weeks into a pregnancy. This lets the family and doctors make decisions about the best treatment options.

Newborn Screening

Newborns in the U.S. are screened within 24 hours of birth to look for serious heart problems that can lower oxygen levels. This lets doctors treat problems right away. The screen is a simple, painless test using a machine called a pulse oximeter. The oximeter uses a sensor put on a baby's skin that estimates how much oxygen is in the baby's blood.

This screening finds most serious heart problems. But some babies whose test is normal could still have a defect, especially COA or other defects on the left side of the heart.

Some heart defects cause serious symptoms right at birth. For those, a baby will go to the newborn intensive care unit (NICU) in the hospital for immediate evaluation by a cardiologist. Other defects might not be diagnosed until the teen years — or even adulthood.

Other Tests

Other tests are done on newborns if a possible heart problem was seen before birth on an ultrasound. They're also done if a close family member has a heart defect or if the mother has a condition, such as diabetes, that might make a heart problem in her baby more likely.

The cardiologist will do a complete physical exam, including checking the baby's heart rate and blood pressure, then order tests such as:

  • an electrocardiogram (ECG)
  • an echocardiogram. This test uses sound waves to create a picture of the heart and its circulation. Echocardiograms are the main tool used to diagnose heart defects.

Sometimes, doctors order a chest X-ray or a cardiac catheterization.

In some babies, a heart murmur is the first sign of a heart defect. A heart murmur is a sound that happens as the heart pumps blood, creating vibrations heard through the doctor's stethoscope.

How Are Heart Defects Treated?

Most heart defects are now treated during infancy. More treatments than ever are available, and most defects can be treated successfully.

Children with heart problems are best cared for by a team of specialists, which usually will include:

  • pediatric cardiologists
  • pediatric heart surgeons
  • pediatric cardiac anesthesiologists
  • doctors specialized in the intensive care of children with heart problems and specialized nurses, nurse practitioners, physician assistants, and many others

Many kids with heart problems have their hearts fixed surgically or through a cardiac catheterization procedure such as a balloon angioplasty (also called valvuloplasty). This can widen an obstructed blood vessel or valve. A cardiologist inserts a catheter (a thin plastic tube with a special balloon attached) into a blood vessel. The balloon is then inflated to stretch open the narrow area of the blood vessel or heart valve.

Some problems, such as small- or moderate-sized ventricular septal defects, may close or decrease in relative size as a child grows.

Complex defects might require a series of operations that are finished when a child is about 3 years old.

When Should I Call the Doctor?

If you think your child may have a heart problem or you notice any signs (such as trouble breathing or feeding, or blue lips or tongue) that concern you, call your doctor. If your baby suddenly turns very blue or loses consciousness, call 911.

Looking Ahead

It can be tempting to be very protective, but it's important to help your child lead as normal a life as possible. Talk with your cardiologist or the care team about safe ways to do this — they are there to support your child and the whole family.

Some physical activities might be limited, but kids can still play and explore with friends. Always check with the cardiologist about which activities are OK for your child and which should be avoided. Some competitive sports could be off limits, for example.

By working with the health care team, you'll get the best care possible for your child.

Reviewed by: Steven Dowshen, MD
Date reviewed: October 2017