Congenital Heart Defects

Atrial Septal Defect (ASD)

An atrial septal defect is a hole in the wall between the heart's upper chambers (atria), causing oxygen-rich blood to mix with oxygen-poor blood. This is usually a simple defect that may close on its own as a child grows. Most ASDs are well-tolerated, even into adulthood, but should be monitored. Larger ASDs can strain the heart and increase the risk of pulmonary hypertension, heart failure, stroke or organ damage. Surgery or catheter-based procedures can close larger defects if needed.

Ventricular Septal Defect (VSD)

A ventricular septal defect is a hole between the heart's lower chambers (ventricles), allowing blood to mix. Small VSDs often close on their own and may not need treatment. Larger VSDs can cause serious problems, requiring the heart and lungs to work harder, leading to pulmonary hypertension and heart failure. Surgery is usually needed for larger VSDs.

Patent Ductus Arteriosus (PDA)

PDA is a defect where a connection between the aorta and pulmonary artery fails to close after birth. Small PDAs may close naturally, but surgery may be required for larger openings to prevent complications.

Pulmonary Stenosis

Pulmonary stenosis is a narrowing of the pulmonary valve, restricting blood flow from the heart to the lungs. Mild cases may not need treatment, but severe cases can be treated with balloon valvuloplasty or open-heart surgery. Both procedures have excellent success rates.

Tetralogy of Fallot (ToF)

ToF is a complex heart condition with four defects: pulmonary stenosis, a large VSD, an overriding aorta (misplaced) and right ventricular hypertrophy (thickened muscle). These defects cause the heart to work harder, leading to low oxygen levels and requiring surgery early in life.

Other Critical Congenital Heart Defects 

There are other types of critical congenital heart defects including:

• Coarctation of the aorta
• Double-outlet right ventricle
• D-transposition of the great arteries
• Ebstein’s anomaly
• Hypoplastic left heart syndrome
• Interrupted aortic arch
• Pulmonary atresia with intact ventricular septum
• Single ventricle
• Total anomalous pulmonary venous return
• Tricuspid atresia
• Truncus arteriosus

These are very complicated abnormalities that will be identified and managed early in life by a team of physicians, including a cardiologist specifically trained in complex congenital heart disease. 

Symptoms of congenital heart defects depend on many factors. For example, symptoms may be different for newborns and adults. They also depend on the number, type and severity of the heart defect.  

Some common symptoms are:

• Bluish tone to a baby’s skin and lips
• Unable to gain weight or grow normally (“Failure to Thrive”)
• Fatigue, or feeling constantly tired
• Heart murmurs, which are unusual sounds heard between heartbeats. Murmurs sometimes sound like a whooshing or swishing noise
• Rapid breathing at rest
• Shortness of breath during physical activity can happen in children or adults with a congenital heart defect 

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. That means a parent who has a congenital heart defect may be more likely to have a child with the defect. As outlined below, exposure to certain medications and other toxins during pregnancy can be an underlying cause or important contributing factor. 

Congenital heart defects are the most common type of birth defect, occurring in about one percent of live births in the United States. The risk of having a baby with a congenital heart defect is influenced by many factors.

Family history and genetics

Congenital heart disease is not usually passed along to your children, but there is some risk. The risk is greater if your baby’s other parent, or another of your children, has a congenital heart defect

Lifestyle during pregnancy

• Smoking during pregnancy or exposure to secondhand smoke
• Some medicines taken during the first trimester of pregnancy, such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment

Other medical conditions

• Diabetes
• Phenylketonuria: a rare, inherited disorder that affects how your body processes a protein called phenylalanine
• Rubella

Some congenital heart defects are diagnosed during pregnancy or soon after birth. Others may not be diagnosed until adulthood. A doctor will take a detailed history and perform a physical exam to look for symptoms and signs of a congenital heart defect. Based on what they find, they may order tests to confirm their diagnosis.

Diagnostic Tests and Procedures

You or your baby may need one or more of the following tests to determine whether suspicious findings are caused by a congenital heart defect:

• Electrocardiogram (EKG/ECG): Assesses heart rhythm and patterns for signs of congenital heart disease.
• Chest X-ray: Shows heart enlargement, extra lung blood flow or fluid buildup.
• Pulse oximetry: Measures blood oxygen levels.
• Echocardiography: Uses sound waves to create heart images, useful for diagnosing or tracking defects. Fetal echocardiography can detect defects before birth.
• Cardiac MRI or CT: Provides detailed images to diagnose or monitor heart defects.
• Cardiac Catheterization: Invasive test to measure pressures and oxygen levels in the heart.
• Genetic Testing: Identifies genetic causes of heart defects, often requiring specialist referral.

While you cannot always prevent a congenital heart defect, you can take steps to lower your baby’s risk.

• Avoid certain medicines if you are trying to get pregnant or are pregnant. Talk to your doctor about what medicines you take and ask which are safe to take during pregnancy.
• Control existing medical conditions, such as diabetes and phenylketonuria, which can raise your risk of having a baby with a congenital heart defect.
• Meet with a genetic counselor if you, your spouse, or one of your children have a congenital heart disease and you are planning to have another child. A genetic counselor can answer questions about the risks and explain the available choices.
• Quit smoking and avoid secondhand smoke
• Avoid recreational drugs.

Almost all newborns in the United States are screened for congenital heart defects shortly 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.

• Fetal screenings – Echocardiography or echo 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 your routine ultrasound shows any sign that your developing baby may have a heart defect or if you have risk factors for a congenital heart defect.
• Newborn screenings – Pulse oximetry is a test that can tell whether a newborn has low levels of oxygen in the blood, which may be a symptom of critical congenital heart defects. The test involves attaching sensors to the baby’s hands or feet to measure oxygen levels and is recommended for all newborns in the United States. 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 repeat the test or may run more tests to diagnose a congenital heart defect.

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.

Receive routine follow-up care

• Schedule regular check-ups with a primary care doctor as well as a pediatric cardiologist or an adult congenital heart specialist, if needed.
• Take medicines as prescribed to prevent complications.
• Go to the dentist for routine cleanings and brush your teeth regularly to help lower the risk of infections traveling from your teeth and mouth to your heart structures.

Make healthy lifestyle habits

• Choose heart-healthy foods. Following a heart-healthy eating pattern, which includes consuming plenty of vegetables, fruits, and whole grains, reduces heart disease risk factors like high blood pressure and obesity.
• Get regular physical activity. Most people with congenital heart defects can be physically active. Physical activity can improve physical fitness and lower many heart disease risk factors, including high blood pressure. The amount or type of physical activity you or your child can do depends on the type of congenital heart defect, the medicines you may be taking, and the devices that may be implanted. Ask your doctor how much and what kinds of physical activity are safe for you or your child.
• Aim for a healthy weight. If you are overweight or have obesity, you can improve your health by aiming for a healthy weight.
• Manage stress. Learning how to manage stress and cope with problems can improve your mental and physical health. Learning relaxation techniques, talking to a counselor and finding a support group can help.
• Quit smoking. For free help and support to quit smoking, you can call the National Cancer Institute’s Smoking Quitline at 1-877-44U-QUIT (1-877-448-7848).
• Avoid excess alcohol
• Avoid recreational drugs

Take care of your mental health

• Adults may experience depression or anxiety because of their heart health. Seeing a counselor or participating in a support group may help.
• Children and teens who have serious conditions or illnesses may feel isolated if they need to be in the hospital a lot. Some may feel sad or frustrated if they have growth, development or learning delays compared to other children their age. If you have concerns about your child's emotional health, talk with your child and your child’s doctor.
• Parents or caregivers may find it stressful caring for a child with a congenital heart defect. Your child’s doctor may be able to help you find support.

Prevent or manage complications

Complications depend on the type of congenital heart defect you have. Some possible complications include:

• Irregular heartbeat (arrhythmia): The heart may beat too fast, too slow, or in an uneven pattern.
• Heart failure: The heart may weaken over time and have trouble pumping blood, which is a serious issue for both adults and some children.
• High blood pressure in the lungs (pulmonary hypertension): Extra blood flowing to the lungs can make it harder for the heart to work.
• Blood clots: These can form in the heart or blood vessels and cause serious problems, like a stroke.
• Infections: The heart and lungs are at risk for infections, such as pneumonia or a heart infection (endocarditis).
• Stroke: A blockage in blood flow to the brain, which can happen due to blood clots.
• Kidney or liver problems: Some people may develop issues with these organs.
• Pregnancy complications: Women with heart defects may face higher risks during pregnancy.
• Hormone and growth issues: There can be problems with thyroid health, bone strength or diabetes. Some children may also have learning or behavioral challenges, like ADHD.

Though some complications cannot be prevented, many can. Some ways to prevent or manage complications are:

• Take your medication as prescribed. Depending on your condition, you may need medicine for heart rhythm, preventing blood clots, or controlling blood pressure.
• Stay up to date with vaccinations, especially for children. Adults with heart or immune issues should get the pneumococcal vaccine to prevent pneumonia.
• Pacemaker: If needed, a pacemaker can help regulate your heart's rhythm. Your doctor will decide if this is necessary.
• Emergency plan: Family members can learn CPR and how to use an AED (Automated External Defibrillator) in case of a heart emergency.
• Inform your doctor about your heart defect before any surgery, as you may face higher risks during operations.

Monitor your condition

To monitor your or your child’s condition, your doctor may recommend the following tests, depending on the type of congenital heart defect:

• Blood or urine tests monitor the function of organs affected by a congenital heart defect.
• Regular EKGs and stress tests
• Echocardiograms to follow your heart over time.  This is a very safe and easy to perform test that uses sound waves to visualize the heart structures and function with no little to no risk.
• Chest X-ray to evaluate lungs if any symptoms arise.
• Spirometry to measure how well the lungs are working.
• Abdominal imaging uses ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) to look for other organ disease, particularly the liver.

Pregnancy and congenital heart defects

Adults with congenital heart defects have a higher risk of pregnancy complications. If you are planning to become pregnant, or are trying to prevent pregnancy, talk to your doctor about the following:

• Medications. Some medicines prescribed to adults with congenital heart defects are not safe to take during pregnancy, as they may harm your baby.
• Tests to evaluate your heart. During pregnancy, a woman’s organ systems, including the heart and blood vessels, go through major changes to support the growing baby. Your doctor may order extra tests before pregnancy to determine whether your heart can tolerate pregnancy. Most women with congenital heart defects can have normal pregnancies.
• Genetic testing. People who have congenital heart defects are at increased risk for miscarriage and having babies with congenital heart defects. Your doctor may suggest that you speak with a genetic counselor or have genetic tests done. If you are already pregnant, your doctor may run tests, like a fetal echocardiography, to look for congenital heart defects in your unborn baby.
• Birth control. Some women with congenital heart defects should avoid some methods of birth control. Talk to your doctor about the best method for you.