There are many types of congenital heart defects. They range from simple to complex and critical. Simple defects, such as atrial septal defect and ventricular septal defects, may have no symptoms and may not require surgery. Complex or critical defects such as hypoplastic left heart syndrome may have severe, life-threatening symptoms. Babies born with a critical congenital heart defect typically have low levels of oxygen soon after birth and need surgery within the first year of life.
An atrial septal defect is a hole in the wall between the atria, which are the two upper chambers of the heart. The hole causes blood to flow from the left atrium and mix with the right atrium, instead of going to the rest of the body. Atrial septal defect is considerered a simple congenital heart defect because the hole may close on its own as the heart grows during childhood, and repair may not be necessary.
This common type of simple congenital heart defect occurs when a connection between the heart’s two major arteries does not close properly after birth. This leaves an opening through which blood can flow when it should not. Small openings may close on their own.
Pulmonary stenosis is a narrowing of the valve through which blood leaves the heart on its way to the lungs. Visit our Heart Valve Disease Health Topic to learn more. Many children with pulmonary stenosis do not need treatment.
A ventricular septal defect is a hole in the wall between the ventricles, which are the two lower chambers of the heart. Blood may flow from the left ventricle and mix with blood in the right ventricle, instead of going to the rest of the body. If the hole is large, this may make the heart and lungs work harder and may cause fluid to build up in the lungs.
This is the most common complex congenital heart defect. Tetralogy of Fallot is a combination of four defects:
Common congenital heart defects include:
Congenital heart defects happen because the heart does not develop normally while the baby is growing in the womb. Doctors often do not know why congenital heart defects occur. Researchers do know that genetics can sometimes play a role.
It is common for congenital heart defects to occur because of changes in the child’s DNA. The changes in the DNA may or may not have come from the parents.
Rarely, congenital heart defects are caused by particular genes that are inherited from the parents. That means a parent who has a congenital heart defect may have an increased risk of having a child with the defect.
Congenital heart defects are the most common type of birth defect, occurring in about one percent of live births in the United States. If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem.
However, doctors often do not know why congenital heart defects occur. Researchers do know that the risk of having a baby with a congenital heart defect is influenced by family history and genetics, the mother’s health, sex, and exposure during pregnancy to environmental factors, such as smoke or certain medicines. Other medical conditions can also raise your risk for having a baby with a congenital heart defect.
Congenital heart disease is not usually passed along to your children, but there is some risk. The risk is increased if your baby’s other parent or another of your children has a congenital heart defect.
Exposure to certain substances during pregnancy may increase your risk of having a baby with a congenital heart defect.
Some medical conditions increase the risk of having a baby with a congenital heart defect, such as:
Congenital heart defects can occur in either sex. Congenital heart defects are slightly more common at birth in boys than girls. Some congenital heart defects are a characteristic of conditions such as Turner syndrome that more commonly affect females.
Almost all newborns in the United States are screened for congenital heart defects in the first few days after birth. However, if you are at high risk for having a baby with a congenital heart defect, your doctor may recommend screening before the baby is born or strategies to help prevent a congenital heart defect.
It is sometimes possible to detect congenital heart defects before your baby is born.
Echocardiography is a painless test that uses sound waves to create moving pictures of the heart. Your doctor may recommend a fetal echocardiogram during pregnancy if the routine ultrasound shows any sign that your developing baby may have a heart defect or if you have risk factors for congenital heart defects.
Fetal echocardiography is usually done at 18 to 22 weeks. If an echocardiogram is done before 16 weeks, your doctor may have to repeat the screening later to make sure any subtle heart defects are captured.
Pulse oximetry determines whether a newborn has low levels of oxygen in the blood, which may be a symptom of critical congenital heart defects. This test is recommended for all newborns in the United States.
Pulse oximetry is done when the baby is more than 24 hours old or before the baby is sent home, if the baby is being sent home less than 24 hours after birth. The test involves attaching sensors to the baby’s hands or feet to measure oxygen levels.
Low oxygen levels in the blood could be due to a congenital heart defect or could be a sign that something else is wrong. If your child has low oxygen levels, the doctor may have the test repeated or may have your child undergo more specific tests to diagnose a congenital heart defect.
While you cannot always prevent a congenital heart defect, you can take steps to lower your and your baby’s risk. Learn about the prevention strategies your doctor may recommend based on your risk factors.
Some congenital heart defects cause few or no signs and symptoms. Since more children with congenital heart defects are living longer, we now know that complications can develop later in life. Signs, symptoms, and complications will vary based on the type of congenital heart defect that you or your child have.
Signs and symptoms may be different for newborns and adults. They also depend on the number, type, and severity of the heart defect. Some common signs and symptoms include:
Congenital heart defects do not cause chest pain or other painful symptoms. Older children or adults may get tired easily or short of breath during physical activity.
Did you know undiagnosed and untreated tetralogy of Fallot causes a recognizable set of symptoms in babies and children?
Babies who have tetralogy of Fallot may have episodes known as tet spells because of sudden drops in the levels of oxygen in their blood after periods of activity, crying, or bowel movements.
In a tet spell, the baby turns very blue and may also show these signs and behaviors:
Children with tetralogy of Fallot also may have Clubbing. This is rare in the United States and is usually seen in older children who have not had the heart defect repaired.
Complications depend on the type of congenital heart defect you have. Some of the possible complications include:
Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. Your or your child’s doctor will perform a physical exam and order diagnostic tests and procedures based on what he or she finds in the physical exam.
During a physical exam, your doctor will do the following:
To diagnose a congenital heart defect, your doctor may have you or your baby undergo some of the following tests and procedures:
Treatment will depend on which type of congenital heart defect you have. Treatments for congenital heart defects include medicines, surgery, and cardiac catheterization procedures. Many congenital heart defects do not require treatment at all. However, children with critical congenital heart defects will need surgery in the first year of life. Some people with congenital heart defects may need treatment, including repeated surgery, throughout their lives. All people with congenital heart defects should be followed by a cardiologist, a doctor who specializes in the heart, throughout their whole life.
Your child's doctor may prescribe medicines to help close patent ductus arteriosus in premature infants.
Cardiac catheterization is a common procedure that is sometimes used to repair simple heart defects, such as atrial septal defect and patent ductus arteriosus, if they do not repair themselves. It may also be used to open up valves or blood vessels that are narrowed or have stenosis.
In this procedure, a thin, flexible tube called a catheter is put into a vein in the groin or neck. The tube is threaded to the heart. Possible complications include bleeding, infection, and pain at the catheter insertion site and damage to blood vessels.
In heart surgery, a cardiac surgeon opens the chest to work directly on the heart.
Surgery may be done for these reasons:
Surgeries that are sometimes needed to treat congenital heart defects include:
The outlook for children who have congenital heart defects is much better today than it was in the past. Advances in diagnosis and treatment allow most of these children to survive to adulthood, which means that more and more adults are living with congenital heart disease. Even if your congenital heart defect was repaired in childhood, you need regular medical follow-up to maintain good health.
Ongoing medical care includes:
Adults should go to medical centers that have specialized programs for adults with congenital heart disease.
Return to Treatment to review possible treatment options for congenital heart defects.
Your doctor will recommend that you adopt lifelong heart-healthy lifestyle changes.
Some babies and children who have congenital heart defects do not grow as fast as other children. They may not eat as much as they should and, as a result, may be smaller and thinner than other children.
Children with congenital heart defects may also start certain activities—such as rolling over, sitting, and walking—later than other children.
Children who have developmental problems as a result of their heart defects may need tutoring, special education, physical therapy, occupational therapy, or speech therapy.
Congenital heart defects can lead to emotional health issues for the person with the health problem and his or her close family.
Adult women with congenital heart defects are at increased risk of pregnancy complications and have special health considerations for birth control and pregnancy. Talk to your doctor about the following:
The move from pediatric care to adult care is an important step in treatment.
Talk with your teen’s healthcare team about creating a plan to help your teen transition to adult care. Start planning as soon as your teen is able and willing to fully take part in this process.
Following a transition plan has many benefits. It will help your teen with the following:
A transition plan also can help your teen think about other important issues, such as future education and employment, birth control and pregnancy planning, and making healthy choices about heart-healthy eating, physical activity, and other heart-healthy lifestyle changes. Emotional health should also be part of the transition plan.
Older teens should start practicing going to the doctor without a parent.
For the transition plan, work with healthcare providers to compile a packet of medical records and information that covers all aspects of the heart defect, including:
Several laws protect the employment rights of people who have health conditions, such as congenital heart defects. The Americans with Disabilities Act and the Work Incentives Improvement Act try to ensure fairness in hiring for all people, including those who have health conditions.
To monitor your or your child’s condition, your doctor may recommend the following tests, depending on the type of congenital heart defect:
People with congenital heart defects, and their caregivers or family members, can take steps to help prevent complications of their condition or from surgical treatments of their congenital heart defect.
Learn about some of the pioneering research contributions we have made over the years that have improved clinical care.
In support of our mission, we are committed to advancing congenital heart defects research in part through the following ways.
Learn more about the exciting research areas we are exploring about congenital heart defects.
We lead or sponsor many studies on congenital heart defects. See if you or someone you know is eligible to participate in our clinical trials.
To learn more about clinical trials at the NIH Clinical Center or to talk to someone about a study that might fit your needs, call the Office of Patient Recruitment 800-411-1222.
After reading our Congenital Heart Defects Health Topic, you may be interested in additional information found in the following resources.