Congenital heart defects in children



A congenital heart defect is a problem with the structure of the heart that a child is born with.

Some congenital heart defects in children are simple and don't need treatment. Other congenital heart defects in children are more complex and may require several surgeries performed over a period of several years.

Learning about your child's congenital heart defect can help you understand the condition and know what you can expect in the coming months and years.


Serious congenital heart defects usually are noticed soon after birth or during the first few months of life. Signs and symptoms could include:

  • Pale gray or blue lips, tongue or fingernails (cyanosis)
  • Rapid breathing
  • Swelling in the legs, belly or areas around the eyes
  • Shortness of breath during feedings, leading to poor weight gain

Less-serious congenital heart defects may not be diagnosed until later in childhood. Signs and symptoms of congenital heart defects in older children may include:

  • Easily becoming short of breath during exercise or activity
  • Easily tiring during exercise or activity
  • Fainting during exercise or activity
  • Swelling in the hands, ankles or feet

When to see a doctor

Serious congenital heart defects are often diagnosed before or soon after your child is born. If you notice that your baby has any of the signs or symptoms above, call your health care provider.

If your child has any of the signs or symptoms of less-serious heart defects as he or she grows, call your child's care provider. Your child's provider can let you know if your child's symptoms are due to a heart defect or another medical condition.


Left and right atria and left and right ventricles
Chambers and valves of the heart

Chambers and valves of the heart

Left and right atria and left and right ventricles

A typical heart has two upper and two lower chambers. The upper chambers, the right and left atria, receive incoming blood. The lower chambers, the more muscular right and left ventricles, pump blood out of the heart. The heart valves, which keep blood flowing in the right direction, are gates at the chamber openings.

To understand the causes of congenital heart defects, it may be helpful to know how the heart typically works.

The heart is divided into four chambers, two on the right and two on the left. To pump blood throughout the body, the heart uses its left and right sides for different tasks.

The right side of the heart moves blood to the lungs through the lung (pulmonary) arteries. In the lungs, blood picks up oxygen then returns to the heart's left side through the pulmonary veins. The left side of the heart then pumps the blood through the body's main artery (aorta) and out to the rest of the body.


How congenital heart defects develop

During the first six weeks of pregnancy, the baby's heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time.

It's at this point in a baby's development that congenital heart defects may begin to develop. Researchers aren't sure exactly what causes most of these defects, but they think genetics, certain medical conditions, some medications, and environmental or lifestyle factors, such as smoking, may play a role.

There are many different types of congenital heart defects. They fall into the general categories described below.

Altered connections in the heart or blood vessels

Altered connections allow blood to flow where it usually wouldn't. Holes in the walls between heart chambers are one example of this type of congenital heart defect.

An altered connection can cause oxygen-poor blood to mix with oxygen-rich blood. This lowers the amount of oxygen sent through the body. The change in blood flow forces the heart and lungs to work harder.

Types of altered connections in the heart or blood vessels include:

  • Atrial septal defect is a hole between the upper heart chambers (atria).
  • Ventricular septal defect is a hole in the wall between the right and left lower heart chambers (ventricles).
  • Patent ductus arteriosus (PAY-tunt DUK-tus ahr-teer-e-O-sus) is a connection between the lung artery and the body's main artery (aorta). It's open while a baby is growing in the womb, and typically closes a few hours after birth. But in some babies, it stays open, causing incorrect blood flow between the two arteries.
  • Total or partial anomalous pulmonary venous connection occurs when all or some of the blood vessels from the lungs (pulmonary veins) attach to a wrong area or areas of the heart.

Congenital heart valve problems

Heart valves are like doorways between the heart chambers and the blood vessels. Heart valves open and close to keep blood moving in the proper direction. If the heart valves can't open and close correctly, blood can't flow smoothly.

Heart valve problems include valves that are narrowed and don't open completely (stenosis) or valves that don't close completely (regurgitation).

Examples of congenital heart valve problems include:

  • Aortic stenosis (stuh-NO-sis). A baby may be born with an aortic valve that has one or two valve flaps (cusps) instead of three. This creates a small, narrowed opening for blood to pass through. The heart must work harder to pump blood through the valve. Eventually, this leads to enlarging of the heart and thickening of the heart muscle.
  • Pulmonary stenosis. A defect on or near the pulmonary valve narrows the pulmonary valve opening and slows the blood flow.
  • Ebstein anomaly. The tricuspid valve — which is located between the right upper heart chamber (atrium) and the right lower chamber (ventricle) — is malformed and often leaks.

Combination of congenital heart defects

Some infants are born with several congenital heart defects that affect the structure and function of the heart. Very complex heart problems may cause significant changes in blood flow or undeveloped heart chambers.

For example, tetralogy of Fallot (teh-TRAL-uh-jee of fuh-LOW) is a combination of four congenital heart defects:

  • A hole in the wall between the heart's lower chambers (ventricles)
  • A narrowed passage between the right ventricle and pulmonary artery
  • A shift in the connection of the aorta to the heart
  • Thickened muscle in the right ventricle

Other examples of complex congenital heart defects are:

  • Pulmonary atresia. The valve that lets blood out of the heart to go to the lungs (pulmonary valve) isn't formed correctly. Blood can't travel its usual route to get oxygen from the lungs.
  • Tricuspid atresia. The tricuspid valve isn't formed. Instead, there's solid tissue between the right upper heart chamber (atrium) and the right lower chamber (ventricle). This congenital heart defect restricts blood flow and causes the right ventricle to be underdeveloped.
  • Transposition of the great arteries. In this serious, rare congenital heart defect, the two main arteries leaving the heart are reversed (transposed). There are two types. Complete transposition of the great arteries is typically noticed during pregnancy or soon after birth. Levo-transposition of the great arteries (L-TGA) is less common. Symptoms may not be noticed right away.
  • Hypoplastic left heart syndrome. A major part of the heart fails to develop properly. In hypoplastic left heart syndrome, the left side of the heart hasn't developed enough to effectively pump enough blood to the body.

Risk factors

Most congenital heart defects result from changes that occur early as the baby's heart is developing before birth. The exact cause of most congenital heart defects is unknown, but some risk factors have been identified. Risk factors for congenital heart defects include:

  • Rubella (German measles). Having rubella during pregnancy can cause problems in a baby's heart development. A blood test done before pregnancy can determine if you're immune to rubella. A vaccine is available for those who aren't immune.
  • Diabetes. Careful control of blood sugar before and during pregnancy can reduce the risk of congenital heart defects in the baby. Diabetes that develops during pregnancy (gestational diabetes) generally doesn't increase a baby's risk of heart defects.
  • Medications. Certain medications taken during pregnancy may cause birth defects, including congenital heart defects. Give your health care provider a complete list of medications you take before trying to become pregnant.

    Medications known to increase the risk of congenital heart defects include thalidomide (Thalomid), angiotensin-converting enzyme (ACE) inhibitors, statins, the acne medication isotretinoin (Myorisan, Zenatane, others), some epilepsy drugs and certain anxiety drugs.

  • Drinking alcohol during pregnancy. Drinking alcohol during pregnancy increases the risk of congenital heart defects.
  • Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of a congenital heart defect in the baby.
  • Family history and genetics. Congenital heart defects sometimes run in families (are inherited) and may be associated with a genetic syndrome. Many children with an extra 21st chromosome (Down syndrome) have congenital heart defects. A missing piece (deletion) of genetic material on chromosome 22 also causes heart defects.


Potential complications of a congenital heart defect include:

  • Congestive heart failure. This serious complication may develop in babies who have a significant heart defect. Signs of congestive heart failure include rapid breathing, often with gasping breaths, and poor weight gain.
  • Heart infections. Congenital heart defects can increase the risk of infection of the heart tissue (endocarditis), which can lead to new heart valve problems.
  • Irregular heart rhythms (arrhythmias). A congenital heart defect or scarring from heart surgery may cause changes in the heart's rhythm.
  • Slower growth and development (developmental delays). Children with more-serious congenital heart defects often develop and grow more slowly than do children who don't have heart defects. They may be smaller than other children of the same age. If the nervous system has been affected, a child may learn to walk and talk later than other children.
  • Stroke. Although uncommon, some children with congenital heart defects are at increased risk of stroke due to blood clots traveling through a hole in the heart and on to the brain.
  • Mental health disorders. Some children with congenital heart defects may develop anxiety or stress because of developmental delays, activity restrictions or learning difficulties. Talk to your child's provider if you're concerned about your child's mental health.


Because the exact cause of most congenital heart defects is unknown, it may not be possible to prevent these conditions. If you have a high risk of giving birth to a child with a congenital heart defect, genetic testing and screening may be done during pregnancy.

There are some steps you can take to help reduce your child's overall risk of birth defects such as:

  • Get proper prenatal care. Regular checkups with a health care provider during pregnancy can help keep mom and baby healthy.
  • Take a multivitamin with folic acid. Taking 400 micrograms of folic acid daily has been shown to reduce birth defects in the brain and spinal cord. It may help reduce the risk of heart defects as well.
  • Don't drink or smoke. These lifestyle habits can harm a baby's health. Also avoid secondhand smoke.
  • Get a rubella (German measles) vaccine. A rubella infection during pregnancy may affect a baby's heart development. Get vaccinated before trying to get pregnant.
  • Control blood sugar. If you have diabetes, good control of your blood sugar can reduce the risk of congenital heart defects.
  • Manage chronic health conditions. If you have other health conditions, including phenylketonuria, talk to your health care provider about the best way to treat and manage them.
  • Avoid harmful substances. During pregnancy, have someone else do any painting and cleaning with strong-smelling products.
  • Check with your provider before taking any medications. Some medications can cause birth defects. Tell your provider about all the medications you take, including those bought without a prescription.


A fetal ultrasound slide showing baby's profile
2D fetal ultrasound

2D fetal ultrasound

A fetal ultrasound slide showing baby's profile

A 2D fetal ultrasound can help your health care provider evaluate your baby's growth and development.

After birth, a health care provider may suspect a diagnosis of a congenital heart defect if a child has growth delays or changes in the color of the lips, tongue or fingernails.

The care provider may hear a heart sound (murmur) while listening to the child's heart with a stethoscope. Most heart murmurs are innocent, meaning that there is no heart defect and the murmur isn't dangerous to your child's health. However, some murmurs may be caused by blood flow changes to and from the heart.


Tests to diagnose a congenital heart defect include:

  • Pulse oximetry. A sensor placed on the fingertip records the amount of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem.
  • Electrocardiogram (ECG or EKG). This noninvasive test records the electrical activity of the heart. Sticky patches with sensors (electrodes) are placed on the chest. Wires connect the patches to a computer, which displays results. An ECG can help diagnose irregular heart rhythms (arrhythmias).
  • Echocardiogram. An echocardiogram uses sound waves (ultrasound) to create images of the heart in motion. It shows how blood moves through the heart and heart valves. If an echocardiogram is done on a baby before birth, it's called a fetal echocardiogram.
  • Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can show if the heart is enlarged, or if the lungs contain extra blood or other fluid. These could be signs of heart failure.
  • Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel, usually in the groin area, and guided to the heart. Catheterization can provide detailed information on blood flow and how the heart works. Certain heart treatments can be done during cardiac catheterization.
  • Heart magnetic resonance imaging (MRI). A heart MRI may be done to diagnose and evaluate congenital heart defects in adolescents and adults. A heart MRI creates 3D pictures of the heart, which allows for accurate measurement of the heart chambers.


Treatment of congenital heart defects in children depends on the specific type of heart problem and how severe it is. Sometimes, a congenital heart defect may have no long-term effect on a child's health and may safely go untreated. Other congenital heart defects, such as a small hole in the heart, may close as a child ages.

Serious congenital heart defects require treatment soon after they're diagnosed. Treatment may involve medications, heart procedures or surgeries, or a heart transplant.


Medications may be given to treat symptoms or complications of a congenital heart defect. They may be used alone or with a heart procedure. Medications for congenital heart defects include:

  • Blood pressure drugs. Examples include angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and beta blockers.
  • Water pills (diuretics). This type of medication reduces the amount of fluid in the body, which reduces the strain on the heart.
  • Heart rhythm drugs. These medications, called anti-arrhythmics, help control an irregular heartbeat (arrhythmia).

Surgery or other procedures

If your child has a severe congenital heart defect, a heart procedure or surgery may be recommended. Heart procedures and surgeries done to treat congenital heart defects include:

  • Cardiac catheterization. Some congenital heart defects can be repaired using thin, flexible tubes (catheters) without the need for open-heart surgery. For example, cardiac catheterization may be used to fix holes in the heart or areas of narrowing.

    During cardiac catheterization, the health care provider inserts one or more catheters into a blood vessel, usually in the groin, and to the heart. Tiny tools are passed through the catheter to the heart to repair the defect. Some catheter procedures have to be done in steps over a period of years.

  • Heart surgery. A child may need open-heart surgery or minimally invasive heart surgery to repair a congenital heart defect. The type of heart surgery depends on the specific defect.
  • Heart transplant. If a serious heart defect can't be repaired, a heart transplant may be needed.
  • Fetal cardiac intervention. Rarely, if a serious defect is diagnosed before birth, a procedure can be done during pregnancy to correct the problem or help reduce complications of the defect as the child grows. Fetal cardiac intervention is rarely done and only possible in very specific circumstances.

Some children with congenital heart defects need many procedures and surgeries throughout life. After congenital heart defect surgery, a child will need regular checkups by a heart doctor (cardiologist).

Lifestyle and home remedies

If your child has a congenital heart defect, lifestyle changes may be recommended to keep the heart healthy and prevent complications.

Sports and activity restrictions

Some children with a congenital heart defect may need to limit exercise or sports activities. However, many others with a congenital heart defect can participate in such activities. Your child's care provider can tell you which sports and types of exercise are safe for your child.

Preventive antibiotics

Sometimes, a congenital heart defect can increase the risk of infection in the lining of the heart or heart valves (infective endocarditis). Antibiotics may be recommended before dental procedures to prevent infection, especially for people who have a mechanical heart valve. Ask your child's heart doctor (cardiologist) if preventive antibiotics are necessary for your child.

Coping and support

You may find that talking with other people who've experienced the same situation brings you comfort and encouragement. Ask your health care provider if there are any support groups in your area.

Living with a congenital heart defect can make some children feel stressed or anxious. Talking to a therapist or counselor may help you and your child learn new ways to manage stress and anxiety. Your care provider can suggest therapists who may be helpful to you or your child.

Preparing for an appointment

If your child has a life-threatening heart defect, it will likely be diagnosed soon after birth, or possibly before birth during a pregnancy ultrasound.

If you think your child has a heart defect that wasn't recognized at birth, talk to your child's health care provider. Be prepared to describe your child's symptoms and provide a family medical history, since some congenital heart defects tend to be passed down through families (are inherited).

Write down the following and bring the notes with you to your appointment:

  • Any signs and symptoms your child is having, including any that may seem unrelated to heart problems.
  • When each symptom began.
  • All medications, vitamins or supplements that the child's birth mother took during pregnancy. Include herbs and supplements and any medicines bought without a prescription.
  • Any medical conditions the birth mother of the child has or had.
  • Whether or not the birth mother drank alcohol during pregnancy.

What you can do

Preparing a list of questions can help you and your health care provider make the most of your time together. You might want to ask questions such as:

  • What tests does my child need? Do these tests require any special preparation?
  • Does my child need treatment? If so, when?
  • What is the best treatment?
  • Do you think my child will have any long-term complications?
  • How can we monitor for possible complications?
  • If I have more children, how likely are they to have a congenital heart defect?
  • Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?

What to expect from your doctor

Your health care provider is likely to ask you many questions. Being ready to answer them may save time to go over anything you want to spend more time on. Your provider may ask:

  • When did you first notice your child's symptoms?
  • Can you describe your child's symptoms?
  • When do these symptoms occur?
  • Do the symptoms come and go, or does your child always have them?
  • Do the symptoms seem to be getting worse?
  • Do you have a family history of congenital heart defects?
  • Does anything make your child's symptoms better?
  • Has your child been growing and meeting developmental milestones as expected? (Ask your child's pediatrician if you're not sure.)