What are congenital heart defects in children?
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. 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.
How common are congenital heart defects in children?
About 1 in every 100 newborns have congenital heart defects, which can range from mild to severe. Please discuss with your doctor for further information.
What are the symptoms of congenital heart defects in children?
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
- 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
- Fainting during exercise or activity
- Swelling in the hands, ankles or feet
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If your children have any signs or symptoms listed above or if you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes congenital heart defects in children?
How the heart works
The heart is divided into four hollow 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 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.
In certain situations, these holes allow oxygen-poor blood to mix with oxygen-rich blood, resulting in less oxygen being carried to your child’s body. Depending on the size of the hole, this lack of sufficient oxygen can cause your child’s skin or fingernails to appear blue or possibly lead to congestive heart failure.
- 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 is a connection 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. Eventually, this leads to enlarging of the heart and thickening of the heart muscle. Examples of this type of defect are pulmonary stenosis or aortic stenosis.
- 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 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. 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 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.
What increases my risk for congenital heart defects in children?
There are many risk factors for congenital heart defects in children, such as:
- 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.
- You can reduce the risk of congenital heart defects 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.
- 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), angiotensin-converting enzyme (ACE) inhibitors, statins, the acne medication isotretinoin (Absorica, Amnesteem, Claravis) and lithium.
- Drinking alcohol during pregnancy. Avoid alcohol during pregnancy because it increases the risk of congenital heart defects.
- Smoking during pregnancy increases the likelihood of a congenital heart defect in the baby.
- Congenital heart defects sometimes run in families and may be associated with a genetic syndrome. 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.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How are congenital heart defects in children diagnosed?
Some congenital heart defects cause serious symptoms right at birth, requiring newborn intensive care in the hospital and immediate evaluation by a cardiologist. Other defects, like atrial septal defects, may go undiagnosed until the teen years — or even adulthood.
Newborns in the U.S. are screened at least 24 hours after birth to look for serious congenital heart disease that can lower oxygen levels. This 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 test can help spot heart problems early on so that they can be treated right away. The screening will find most serious heart defects, but some babies who test normal could still have heart disease, especially coarctation or other defects on the left side of the heart.
If a congenital heart defect is suspected, your doctor will likely refer you to a pediatric cardiologist. After a complete physical examination, including evaluation of the baby’s heart rate and blood pressure, the cardiologist will order an electrocardiogram (EKG). EKGs are performed by placing small pads (called leads) on the child’s chest, which are wired to a monitor that records and prints out the electrical signals of the heart.
The cardiologist will often order an echocardiogram, which provides detailed images of the heart by using ultrasound. Specialized ultrasound waves can demonstrate all of the heart chambers and valves, the great arteries arising from the heart, and the direction and speed of blood flow in various areas of the heart. Echocardiograms also can evaluate whether the heart is squeezing and relaxing normally. Echocardiograms are the primary tool for diagnosing congenital heart defects.
A fetal echocardiogram is a specialized type of ultrasound that allows diagnosis of heart problems in utero. This can be done as early as 16–18 weeks into the pregnancy. These tests are ordered when an obstetrician suspects a heart abnormality on a level II ultrasound. They’re also done if another close family member has a congenital heart defect or if the mother has a condition, such as diabetes, that might make a heart problem in the fetus more likely.
In some children, a chest X-ray is done to evaluate the size and shape of the heart. It can also help show the amount of blood the heart is pumping to the lungs.
Cardiac catheterization is sometimes done as well. In this procedure, a long, thin tube (a catheter) is threaded through blood vessels in the navel (in a newborn) or the groin and up into the heart. Once in place, the catheter can measure the oxygen levels and pressures within the heart’s chambers. Dye may be injected through the catheter to better show the heart’s inner structures and see the direction of blood flow through the heart.
Many congenital heart defects can be fixed in a cardiac catheterization. For instance, devices can close holes in the heart or open up tight valves or narrowed blood vessels.
A pediatric cardiologist is the doctor most qualified to diagnose a congenital heart defect and give treatment. This is true even before a baby is born. If you are an expectant parent and your baby has been diagnosed with a congenital heart defect via a fetal ultrasound, your obstetrician probably will have you see a pediatric cardiologist.
How are congenital heart defects in children treated?
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. Catheter procedures can often be used to fix holes or areas of narrowing.
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.
- Open-heart surgery. Depending on your child’s condition, he or she may need surgery to repair the defect. Many congenital heart defects are corrected using open-heart surgery. In open-heart surgery, the chest has to be opened.
In some cases, minimally invasive heart surgery may be an option. This type of surgery involves making small incisions between the ribs and inserting instruments through them to repair the defect.
- Heart transplant. If a serious heart defect can’t be repaired, a heart transplant may be an option.
- 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.
Drugs known as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and 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.
Ask your child’s cardiologist if preventive antibiotics are necessary for your child.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage congenital heart defects in children?
The following lifestyles and home remedies might help you cope with congenital heart defects in children:
- Developmental difficulties. Because some children who have congenital heart defects may have had a long recovery time from surgeries or procedures, their development may lag behind that of 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.
- Emotional difficulties. Many children who have developmental difficulties may feel insecure about their abilities and may have emotional difficulties as they reach school age.
- 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.
If you have any questions, please consult with your doctor to better understand the best solution for you.
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