If your child has a congenital heart defect, it means that your child was born with a problem in the structure of his or her heart.
Some congenital heart defects in children are simple and don't need treatment, such as a small hole between heart chambers that closes on its own. Other congenital heart defects in children are more complex and may require several surgeries performed over a period of several years.
The news that your child has a congenital heart defect can leave you worried about your child's health now and in the future. But, 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 become evident soon after birth or during the first few months of life. Signs and symptoms could include:
- Pale gray or blue skin color (cyanosis)
- Rapid breathing
- Flared nostrils
- Grunting when breathing
- Swelling in the legs, abdomen 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, because your child may not have any noticeable signs of a problem. If signs and symptoms are evident in older children, they may include:
- Easily becoming short of breath during exercise or activity
- Easily tiring 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 child's doctor.
If your child has any of the signs or symptoms of less serious heart defects as he or she grows, call your child's doctor. Your child's doctor can let you know if your child's symptoms are due to a heart defect or another medical condition.
How the heart works
The heart is divided into four hollow chambers, two on the right and two on the left. In performing its basic job — pumping 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 vessels called 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 aorta and out to the rest of the body.
How heart defects develop
During the first six weeks of pregnancy, the heart begins taking shape and starts beating. The major blood vessels that run to and from the heart also begin to form during this critical time during gestation.
It's at this point in your baby's development that 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 factors, such as smoking, may play a role.
Types of heart defects
There are many different types of congenital heart defects, falling mainly into these categories:
Holes in the heart. Holes can form in the walls between heart chambers or between major blood vessels leaving the heart. These holes allow oxygen-rich and oxygen-poor blood to mix. If the holes are large and a lot of blood is mixed, the blood that ends up being circulated through your child's body is not carrying as much oxygen as normal.
Not having enough oxygen can cause your child's skin or fingernails to appear blue. Your baby may also develop signs of congestive heart failure, such as shortness of breath, irritability and leg swelling, because both oxygen-rich and oxygen-poor blood are flooding the lungs.
A ventricular septal defect is a hole in the wall between the right and left chambers on the lower half of the heart (ventricles). An atrial septal defect occurs when there's a hole between the upper heart chambers (atria).
Patent ductus arteriosus (PAY-tunt DUK-tus ahr-teer-e-O-sus) is a condition that causes an opening between the pulmonary artery (containing deoxygenated blood) and the aorta (containing oxygenated blood). A complete atrioventricular canal defect is a condition that causes a hole in the center of the heart.
Obstructed blood flow. When blood vessels or heart valves are narrow because of a heart defect, the heart must work harder to pump blood through them. Among the most common of this type of defect is pulmonary stenosis (stuh-NO-sis). This condition occurs when the valve that allows blood to pass from the right ventricle to the lungs via the pulmonary artery is too narrow to function properly.
Another type of obstructive defect is aortic stenosis. In this condition, the aortic valve, which allows blood to pass from the left ventricle out to the body via the aorta, is too narrow. Narrowed valves force the heart muscle to work harder, eventually leading to thickening and enlarging of the heart.
Abnormal blood vessels. Several congenital heart defects happen when blood vessels going to and from the heart don't form correctly, or they're not positioned the way they're supposed to be.
A defect called transposition of the great arteries is a condition caused by abnormal blood vessels. It occurs when the pulmonary artery and the aorta are on the wrong sides of the heart.
A condition called coarctation of the aorta happens when the main blood vessel supplying blood to the body is too narrow. Coarctation of the aorta causes high blood pressure.
Total anomalous pulmonary venous connection is a defect that occurs when blood vessels from the lungs attach to wrong area of the heart.
Heart valve abnormalities. If the heart valves can't open and close correctly, blood can't flow smoothly.
One example of this type of defect is called Ebstein's anomaly. In Ebstein's anomaly, the tricuspid valve — which is located between the right atrium and the right ventricle — is malformed and often leaks.
Another example is pulmonary atresia, in which the pulmonary valve is missing, causing abnormal blood flow to the lungs.
- An underdeveloped heart. Sometimes, a major portion of the heart fails to develop properly. For example, in hypoplastic left heart syndrome, the left side of the heart hasn't developed enough to effectively pump enough blood to the body.
- A combination of defects. Some infants are born with several heart defects. Tetralogy of Fallot (teh-TRAL-eh-jee of fuh-LOW) is a combination of four defects: a hole in the wall between the heart's ventricles, a narrowed passage between the right ventricle and pulmonary artery, a shift in the connection of the aorta to the heart, and thickened muscle in the right ventricle.
Most congenital heart defects result from problems early in your child's heart development, the cause of which is unknown. However, certain environmental and genetic risk factors may play a role. They include:
- Rubella (German measles). Having rubella during pregnancy can cause problems in your baby's heart development. Your doctor can test you for immunity to this viral disease before pregnancy and vaccinate you against it if you aren't immune.
- Diabetes. Having this chronic condition may interfere with the development of the fetus's heart. You can reduce the risk by carefully controlling your diabetes before attempting to conceive and during pregnancy. Gestational diabetes generally doesn't increase your baby's risk of developing a heart defect.
Medications. Certain medications taken during pregnancy may cause birth defects, including congenital heart defects. Give your doctor a complete list of medications you take before attempting to become pregnant.
Medications known to increase the risk of congenital heart defects include thalidomide (Thalomid), the acne medication isotretinoin (Amnesteem, Claravis, Sotret), lithium and anti-seizure medications containing valproate.
- Drinking alcohol during pregnancy. Avoid alcohol during pregnancy because it increases the risk of congenital heart defects.
- Smoking. Smoking during pregnancy increases the likelihood of a congenital heart defect in the baby.
Heredity. Congenital heart defects appear to run in families and are associated with many genetic syndromes. Many children with Down syndrome — which is caused by an extra 21st chromosome (trisomy 21) — have heart defects. A missing piece (deletion) of genetic material on chromosome 22 also causes heart defects.
Genetic testing can detect such disorders during fetal development. If you already have a child with a congenital heart defect, a genetic counselor can estimate the odds that your next child will have one.
Some potential complications that can occur with a congenital heart defect include:
- Congestive heart failure. This serious complication, which makes it difficult for the heart to pump blood to the body, 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.
- Slower growth and development. 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 and, if the nervous system has been affected, may learn to walk and talk later than other children.
- Heart rhythm problems. Heart rhythm problems (arrhythmias) can be caused by a congenital heart defect or from scarring that forms after surgery to correct a congenital heart defect.
- Cyanosis. If your child's heart defect causes oxygen-rich and oxygen-poor blood to mix in his or her heart, your child may develop a grayish-blue skin color, a condition called cyanosis.
- 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. Stroke is also a potential complication of some corrective surgeries for congenital heart defects.
- Emotional issues. Some children with congenital heart defects may feel insecure or develop emotional problems because of their size, activity restrictions or learning difficulties. Talk to your child's doctor if you're concerned about your child's moods.
A need for lifelong follow-up. Treatment for children who have congenital heart defects may not end with surgeries or medication while they're young.
Children who have heart defects should be mindful of their heart problems their entire lives, as their defect could lead to an increased risk of heart tissue infection (endocarditis), heart failure or heart valve problems. Most children with congenital heart defects will need to be seen regularly by a cardiologist throughout their life.
If your child has a life-threatening heart defect, it will likely be detected soon after birth, or possibly before birth as a part of routine exams during pregnancy.
If you suspect your child has a heart defect later in infancy or childhood, talk to your child's doctor. Be prepared to describe your child's symptoms and provide a family medical history, since some heart defects tend to be hereditary.
Your child's doctor may also want to know if the mother of the child had any medical conditions or used any medications or alcohol while pregnant that may have been a risk factor for developing a congenital heart defect.
What you can do
- Write down any signs and symptoms your child is experiencing, including any that may seem unrelated to heart problems. Write down when each symptom began.
- Make a list of all medications, vitamins or supplements that the mother of the child has been taking.
- Write down questions to ask your doctor.
Your time with your doctor is limited, so preparing a list of questions may help you make the most of your time together. You might want to ask the following questions:
- Are these signs and symptoms related to my family history?
- What kinds of 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 experience any long-term complications?
- How will we monitor for possible complications?
- If I have more children, what are the odds of this condition occurring in them?
- 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 doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:
- When did you first notice your child's symptoms?
- Can you describe your child's symptoms?
- When do these symptoms occur?
- Have the symptoms been continuous or occasional?
- Do the symptoms seem to be getting worse?
- Do you have any family history of congenital heart defects?
- Does anything seem to improve your child's symptoms?
- Has your child been growing and meeting developmental milestones as expected?
Your child's doctor may initially suspect a problem because he or she hears a heart murmur during a routine exam. A heart murmur is a sound that occurs when blood flows abnormally through the heart or blood vessels. Your child's doctor can hear a heart murmur 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. Some murmurs, however, may mean blood is flowing through your child's heart abnormally because he or she has a heart defect.
Tests to diagnose a congenital heart defect
If it's possible your child has a heart defect, your doctor or your child's doctor may order several tests to see if your child has a heart problem. In addition to a regular physical exam, these could include:
- Fetal echocardiogram. This test allows your doctor to see if your child has a heart defect before he or she is born, allowing your doctor to better plan treatment. In this test, your doctor performs an ultrasound. The sound waves from the ultrasound are used to create a picture of your baby's heart.
Echocardiogram. Your child's doctor may use a regular echocardiogram to diagnose a congenital heart defect after your child has been born.
In this noninvasive test, your child's doctor performs an ultrasound to produce images of the heart. An echocardiogram allows the doctor to see your child's heart in motion and to identify abnormalities in the heart muscle and valves.
- Electrocardiogram. This noninvasive test records the electrical activity of your child's heart and can help diagnose heart defects or rhythm problems. Electrodes connected to a computer and printer are placed on your baby's chest and show waves that indicate how your child's heart is beating.
- Chest X-ray. Your child may have a chest X-ray to see if the heart is enlarged, or if the lungs have extra blood or other fluid in them. These could be signs of heart failure.
- Pulse oximetry. This test measures how much oxygen is in your child's blood. A sensor is placed over the end of your child's finger to record the amount of oxygen in your child's blood. Too little oxygen could suggest your child has a heart problem.
Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby's groin and guided through it into the heart.
Catheterization is sometimes necessary because it may give your child's doctor a much more detailed view of your child's heart defect than an echocardiogram. In addition, some treatment procedures can be done during cardiac catheterization.
A congenital heart defect may have no long-term effect on your child's health — in some instances, such defects can safely go untreated. Certain defects, such as small holes, may even correct themselves as your child ages.
Some heart defects, however, are serious and require treatment soon after they're found. Depending on the type of heart defect your child has, doctors treat congenital heart defects with:
Procedures using catheterization. Some children and adults now have their congenital heart defects repaired using catheterization techniques, which allow the repair to be done without surgically opening the chest and heart. In procedures that can be done using catheterization, the doctor inserts a thin tube (catheter) into a leg vein and guides it to the heart with the help of X-ray images.
Once the catheter is positioned at the site of the defect, tiny tools are threaded through the catheter to the heart to repair the defect. Catheter procedures can often be used to fix holes or areas of narrowing.
To correct a hole in the heart, such as an atrial septal defect, a catheter is threaded through a blood vessel to the hole. The catheter is equipped with an umbrella-like device that is opened and left in place. This plugs the hole, and over time, normal tissue grows over the device.
To repair areas of narrowing, such as pulmonary valve stenosis, a catheter is equipped with a small balloon that's inflated in the area that's narrowed. This creates a wider area for blood to flow through.
Open-heart surgery. In some cases, your child's doctor can't fix your child's heart defect using a catheter procedure. In these cases, your child may need surgery to repair the defect.
The type of surgery your child needs depends on the extent of the defect. For some congenital heart defects, such as holes in the heart, minimally invasive heart surgery may be an option. However, congenital heart defects are usually corrected using open-heart surgery.
Either type of surgery requires stopping the heart temporarily and using a heart-lung machine to circulate the blood throughout the body during surgery. The big difference between the two surgeries is that in a minimally invasive procedure, surgeons can operate through the ribs using only small holes. In open-heart surgery, the chest has to be opened.
These surgeries are major medical procedures and may require a significant recovery time for your child.
- Heart transplant. If a serious heart defect can't be repaired, a heart transplant may be an option.
Medications. Some mild congenital heart defects, especially those found later in childhood or adulthood, can be treated with medications that help the heart work more efficiently. And, sometimes, congenital heart defects can't be operated on, or can't be completely repaired. In these cases, medication may be an option.
Drugs known as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta blockers, and medications that cause fluid loss (diuretics) can help ease stress on the heart by lowering blood pressure, heart rate and the amount of fluid in the chest. Certain medications can also be prescribed to help irregular heartbeats (arrhythmias).
Sometimes, a combination of treatments is necessary. In addition, some catheter or surgical procedures have to be done in steps, over a period of years. Others may need to be repeated as a child grows.
Some children with congenital heart defects require multiple procedures and surgeries throughout life. Although the outcomes for children with heart defects have improved dramatically, most people, except those with very simple defects, will require ongoing care, even after corrective surgery.
Lifelong monitoring and treatment. Even if your child has surgery to treat a heart defect, your child's condition will need to be monitored for the rest of his or her life.
Initially, this is done by a pediatric cardiologist, and then an adult cardiologist. A congenital heart defect can affect your child's adult life, as it can contribute to other health problems.
As your child ages, it's important to remind him or her of the heart condition that was corrected and the need for ongoing care. Encourage your child to keep his or her doctor informed about the heart defect and the procedures performed to treat the problem.
Exercise restrictions. Parents of children with congenital heart defects may worry about the risks of rough play and activity even after treatment. Although some children may need to limit the amount or type of exercise, many can participate in normal or near-normal activity.
Your child's doctor can tell you which activities are safe for your child. If some activities do pose distinct dangers, encourage your child to participate in other activities instead of focusing on what he or she can't do. Although every child is different, most children with congenital heart defects grow up to lead healthy, productive lives.
Infection prevention. Depending on the type of congenital heart defect your child had, and the surgery used to correct it, your child may need to take extra steps to prevent infection.
Sometimes, a congenital heart defect can increase the risk of infections — either in the lining of the heart or heart valves (infective endocarditis). Because of this risk, your child may need to take antibiotics to prevent infection before additional surgeries or dental procedures.
Children who are most likely to have a higher risk of infection include those whose defect was repaired with a prosthetic material or device, such as an artificial heart valve. Children who've had surgery to place a prosthetic device in the previous six months also face a higher risk of infection. Ask your child's cardiologist if preventive antibiotics are necessary for your child.
It's natural for many parents to feel worried about their child's health, even after treatment of a congenital heart defect. Although many children who have congenital heart defects can do the same things children without heart defects can, here are a few things to keep in mind if your child has had a congenital heart defect:
- Developmental difficulties. Because some children who have congenital heart defects may have had a long recovery time from surgeries or procedures, they may developmentally lag behind other children their age. Some children's difficulties may last into their school years, and they may have difficulties learning to read or write, as well. Talk to your child's doctor about ways to help your child through his or her developmental difficulties.
- Emotional difficulties. Many children who have developmental difficulties may feel insecure about their abilities and may have emotional difficulties as they reach school age. Talk to your child's doctor about ways you can help your child cope with these problems, which may include support groups for parents or a visit to a therapist or psychologist for your child.
- Support groups. Having a child with a serious medical problem isn't easy and, depending on the severity of the defect, may be very difficult and frightening. You may find that talking with other parents who've been through the same situation brings you comfort and encouragement. Ask your child's doctor if there are any local support groups.
Because the exact cause of most congenital heart defects is unknown, it may not be possible to prevent these conditions. However, there are some things you can do that might reduce your child's overall risk of birth defects and possibly heart defects, too, such as:
- Get a rubella (German measles) vaccine. A rubella infection during pregnancy may affect your baby's heart development. Be sure to get vaccinated before you try to conceive.
- Control chronic medical conditions. If you have diabetes, keeping your blood sugar in check can reduce the risk of heart defects. If you have other chronic conditions, such as epilepsy, that require the use of medications, discuss the risks and benefits of these drugs with your doctor.
- Avoid harmful substances. During pregnancy, leave painting and cleaning with strong-smelling products to someone else. Also, don't take any drugs, herbs or dietary supplements without consulting your doctor first. Don't smoke or drink alcohol during pregnancy.
- Take a multivitamin with folic acid. Daily consumption of 400 micrograms of folic acid has been shown to reduce birth defects in the brain and spinal cord and may help reduce the risk of heart defects as well.