Congenital heart defects

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Congenital Heart Defects

Also known as Holes in the Heart, Atrial Septal Defect, Ventricular Septal Defect, Tetralogy of Fallot, Patent Ductus Arteriosus (PDA), Congenital Heart Disease

Congenital heart defects, or diseases, are problems with the heart’s structure that are present at birth. They may change the normal flow of blood through the heart. Congenital heart defects are the most common type of birth defect.

There are many types of congenital heart defects. The most common defects involve the inside walls of the heart, the valves of the heart, or the large blood vessels that carry blood to and from the heart. Some defects require no treatment, but some require treatment soon after birth. Because diagnosis and treatment of congenital heart defects has improved, more babies are surviving and now many adults are living with congenital heart defects.

Types- Congenital Heart Defects

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.

Atrial septal defect

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.

Patent ductus arteriosus

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

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.

Ventricular septal defect

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.

Tetralogy of Fallot

This is the most common complex congenital heart defect. Tetralogy of Fallot is a combination of four defects:

  • Pulmonary stenosis.
  • A large ventricular septal defect.
  • An overriding aorta. With this defect, the aorta is located between the left and right ventricles, directly over the ventricular septal defect. As a result, oxygen-poor blood from the right ventricle can flow directly into the aorta instead of into the pulmonary artery.
  • Right ventricular hypertrophy. In this case, the muscle of the right ventricle is thicker than usual because it has to work harder than normal.
Other critical congenital heart defects
Common congenital heart defects include:
  • 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
Causes- Congenital Heart Defects

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.

Genetics

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.

Look for

  • Risk Factors will discuss medical conditions that can increase the risk of having a baby with a congenital heart defect.
  • Treatment will discuss medicines and surgery that your or your child’s doctor may recommend if you or your child is diagnosed with a congenital heart defect.

Risk Factors- Congenital Heart Defects

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.

- Family history and genetics

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.

- Environmental factors

Exposure to certain substances during pregnancy may increase your risk of having a baby with a congenital heart defect.

  • Smoking during pregnancy or exposure to secondhand smoke.
  • Taking some medicines—such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment—in the first trimester.

- Other medical conditions

Some medical conditions increase the risk of having a baby with a congenital heart defect, such as:

  • Diabetes. Your risk is higher if you have diabetes before pregnancy, or if you are diagnosed with diabetes while you are in your first trimester. However, a diagnosis of gestational diabetes, which occurs later in the pregnancy, is not a major risk factor.
  • Phenylketonuria. This rare, inherited disorder affects how your body processes a protein called phenylalanine, which is found in many foods. Getting phenylketonuria under control before getting pregnant can reduce your risk of having a baby with a congenital heart defect.
  • Rubella. Infection with the rubella virus, also known as German measles, during pregnancy increases your risk.
- Sex

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.

Screening and Prevention- Congenital Heart Defects

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.

Screening during pregnacy

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.

Newborn screenings

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.

Prevention strategies

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.

  • Avoid certain medicines if you are trying to get pregnant or are pregnant. Talk to your doctor about what medicines you take and what is safe to take during pregnancy.
  • Control existing conditions, such as diabetes and phenylketonuria, which increase your risk of having a baby with a congenital birth 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 choices that are available.
  • Quit smoking and avoid secondhand smoke.
Look for
  • Diagnosis will discuss tests and procedures that your doctor may use to diagnose types of congenital heart defects.
  • Living With will explain what your doctor may recommend to manage your condition and prevent it from getting worse or causing complications.
  • Research for Your Health will explain how we are using current research and advancing research on congenital heart defects.
  • Participate in NHLBI Clinical Trials will explain our ongoing clinical studies that are investigating prevention strategies for congenital heart defects.

Signs, Symptoms, and Complications- Congenital Heart Defects

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

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:

  • Cyanosis
  • Fatigue
  • Heart murmurs
  • Poor blood circulation
  • Rapid breathing

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:

  • Difficulty breathing
  • Fatigue
  • Lack of response to a parent's voice or touch
  • Limpness
  • Loss of consciousness
  • Unusual fussiness

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

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

  • Arrhythmia  
  • Blood clots  
  • Developmental disorders and delays. Children with congenital heart defects are more likely to have problems with behavior. They are also more likely to have speech and attention-deficit/hyperactivity disorders.
  • Emotional health issues. Depression, anxiety, and post-traumatic stress disorder are common among people with congenital heart defects.
  • Endocarditis, a type of heart inflammation
  • Endocrine disorders, including thyroid problems, bone health issues, and diabetes. Problems with the hormones that deal with calcium can cause bone problems.
  • Heart failure. Heart failure is the leading cause of death in adults with congenital heart defects. Some children with congenital heart defects develop heart failure.

Kidney disease

  • Liver disease
  • Pneumonia. Pneumonia is a leading cause of death in adults with congenital heart disease.
  • Pregnancy complications. Women with congenital heart defects have an increased risk of complications during pregnancy and childbirth. Read more in our Living Withsection.
  • Pulmonary hypertension
  • Stroke

Diagnosis- Congenital Heart Defects

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.

Physical exam

During a physical exam, your doctor will do the following:

  • Listen to your or your child’s heart and lungs with a stethoscope.
  • Look at your baby’s general appearance. Some children with certain heart defects also have genetic syndromes that make them look a certain way.
  • Look for signs of a heart defect, such as shortness of breath, rapid breathing, delayed growth, signs of heart failure, or cyanosis.

Diagnostic tests and procedures

To diagnose a congenital heart defect, your doctor may have you or your baby undergo some of the following tests and procedures:

  • Echocardiography to diagnose a heart defect or follow your or your child’s progress over time. Fetal echocardiography can sometimes diagnose a congenital heart defect before a baby is born.
  • Electrocardiogram (EKG or ECG) to evaluate the rhythm of the heartbeat.
  • Cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is flowing from the left side of the heart into the right side of the heart, instead of going to the rest of the body.
  • Chest X-ray to show whether the heart is enlarged. It can also show whether the lungs have extra blood flow or extra fluid, a sign of heart failure.
  • Genetic testing to determine if particular genes or genetic syndromes such as Down syndrome are causing the congenital heart defect. Your doctor may refer you or your child to a specialist in genetic testing.
  • Cardiac MRI to diagnose a heart defect or follow your or your child’s progress over time.
  • Pulse oximetry to estimate how much oxygen is in the blood. A small sensor is attached to an infant’s hand or foot or an older person’s finger or toe.

Reminders

  • Return to Risk Factors to review family history, smoking, and medicines that increase your risk of having a baby with a congenital heart defect.
  • Return to Signs, Symptoms, and Complications to review common signs and symptoms of congenital heart defects.
  • Return to Screening and Prevention to review how to screen for congenital heart defects.

Treatment- Congenital Heart Defects

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.

Medicines

Your child's doctor may prescribe medicines to help close patent ductus arteriosus in premature infants.

  • Indomethacin or ibuprofen triggers the patent ductus arteriosus to constrict or tighten, which closes the opening.
  • Acetaminophen is sometimes used to close patent ductus arteriosus.

Procedures

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.

Surgery

In heart surgery, a cardiac surgeon opens the chest to work directly on the heart.

Surgery may be done for these reasons:

  • To repair a hole in the heart, such as a ventricular septal defect or an atrial septal defect.
  • To repair a patent ductus arteriosus.
  • To repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed.
  • To repair or replace a valve.
  • To widen narrowed blood vessels.

Surgeries that are sometimes needed to treat congenital heart defects include:

  • Heart transplant. Children may receive a heart transplant if they have a complex congenital heart defect that cannot be repaired surgically or if the heart fails after surgery. Children may also receive a heart transplant if they are dependent on a ventilator or have severe symptoms of heart failure. Some adults with congenital heart defects may eventually need a heart transplant.
  • Palliative surgery. Some babies with only one ventricle are too weak or too small to have heart surgery. They must have palliative surgery, or temporary surgery, first to improve oxygen levels in the blood. In this surgery, the surgeon installs a shunt, a tube that creates an additional pathway for blood to travel to the lungs to get oxygen. The surgeon removes the shunt when the baby’s heart defects are fixed during the full repair.
  • Ventricular assist device. For people with heart failure from a congenital heart defect, this device supports the heart until a transplant occurs. These devices can be difficult to use in people who have congenital heart defects because of the heart’s abnormal structure.
  • Total artificial heart. For some people with complex congenital heart defects, a total artificial heart may be needed instead of a ventricular assist device.

Look for

  • Living With will discuss what your doctor may recommend including lifelong lifestyle changes and medical care to prevent your condition from recurring, getting worse, or causing complications.
  • Research for Your Health will explain how we are using current research and advancing research to treat people with congenital heart defects.
  • Participate in NHLBI Clinical Trials will discuss our ongoing clinical studies that are investigating treatments for congenital heart defects.

Living With

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.

Receive routine follow-up care - Congenital Heart Defects

Ongoing medical care includes:

  • Having check-ups with a pediatric cardiologist or an adult congenital heart specialist as directed
  • Seeing your or your child’s primary care doctor for routine exams
  • Taking medicines as prescribed to prevent complications
  • Going to the dentist for routine cleanings and brushing your teeth regularly

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.

Heart-healthy lifestyle changes - Congenital Heart Defects

Your doctor will recommend that you adopt lifelong heart-healthy lifestyle changes.

  • Heart-healthy eating. Following a heart-healthy eating pattern, which includes consuming plenty of vegetables, fruits, and whole grains, reduces the risk of high blood pressure and obesity.
  • Being physically active. 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. Some people with congenital heart defects may need to avoid competitive sports. Most people with congenital can participate in recreational sports, physical education classes, or general physical activity. Ask your doctor how much and what kinds of physical activity are safe for you or your child. Remember to ask the doctor for a note that describes any limits on your child's physical activities. Schools and other groups may need this information.
  • Aiming for a healthy weight. After treatments and surgery, growth and development may improve. Children and adults with congenital heart defects are at risk for obesity, which can lead to high blood pressure and other conditions that can increase the risk for heart problems.
Developmental disorders and delays - Congenital Heart Defects

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.

Emotional health - Congenital Heart Defects

Congenital heart defects can lead to emotional health issues for the person with the health problem and his or her close family.

  • Adults may experience depression or anxiety because of their heart health. They may feel lonely or self-conscious about surgical scars. Psychotherapy 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.
Birth control and pregnancy - Congenital Heart Defects

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:

  • 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.
  • Medicines. 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 of having babies with congenital heart defects. Your doctor may suggest that you speak with a genetic counselor or have genetic tests done. Your doctor may have you undergo fetal echocardiography, a test to look for congenital heart defects in your unborn baby.
Transition to adult care - Congenital Heart Defects

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:

  • Getting used to talking with healthcare providers.
  • Learning about the adult healthcare system.
  • Taking responsibility for his or her medical care.
  • Understanding the importance of having health insurance and learn what his or her insurance covers.

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:

  • Diagnosis
  • Health insurance
  • Prescribed medicines
  • Procedures or surgeries
  • Recommendations about medical follow-up and how to prevent complications
Know your rights - Congenital Heart Defects

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.

Monitor your condition - Congenital Heart Defects

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 to monitor the function of organs affected by a congenital heart defect.
  • Spirometry to measure how well the lungs are working.
  • Abdominal imaging by ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) to look for liver disease.
Prevent and control complications over your lifetime

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.

  • Anti-arrhythmics. These drugs control arrhythmia and may be used for patients whose congenital heart defect causes arrhythmia.
  • Antibiotics. People with certain types of congenital heart defects may have an increased risk of infective endocarditis. Your doctor may recommend antibiotics to reduce the risk of infective endocarditis before dental procedures or other procedures that run the risk of introducing bacteria to the bloodstream. Good oral health also decreases the risk of infective endocarditis. Learn more in our Heart Inflammation Health Topic.
  • Anticlotting medicines. You may need to take anticoagulant, antiplatelet, and fibrinolytic medicines to treat blood clots or prevent blood clots from forming. These medicines are often prescribed long-term to people with artificial shunts and mechanical heart valves. Long-term use of warfarin, a common anticoagulant, may increase the risk of osteoporosis.
  • Blood pressure medicines. These drugs help control blood pressure. Common types of blood pressure medicines include diuretics, beta blockers, and angiotensin-converting enzyme (ACE) inhibitors.
  • Pacemaker. Pacemakers can be given to both children and adults with congenital heart defects to help control abnormal heart rhythms, also known as arrhythmias.
  • Routine vaccinations are especially important for children with congenital heart defects. Adults with ongoing heart or immune problems should have a pneumococcal vaccination to prevent pneumonia and complications such as meningitis.
  • Special care during surgery. Be sure your doctor is aware of your congenital heart defect before any surgery, not just heart surgery. People with congenital heart defects are at higher risk of problems during surgery.
  • Training for sudden cardiac arrest. Caregivers and family members can train in cardiopulmonary resuscitation (CPR) and using a type of defibrillator called an automated external defibrillator (AED).


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