Pediatric Congenital Heart Disease

Congenital heart disease (CHD) is the most common birth defect, affecting approximately 8 of every 1,000 newborns, and accounting for more deaths in the first year than any other defect. More than 90 percent of children who undergo surgery survive to adulthood, but early detection is critical.

Prevention & Risk Assessment

Prevention & Risk Assessment

Children’s National is home to comprehensive cardiology clinical and research teams with expertise in treating all ages of patients. We can diagnose heart abnormalities prenatally, which provides ample time to plan for treatment immediately after birth. Most of our heart surgery patients are younger than one year of age; many of them are younger than six months. Interventions for some patients may involve less invasive procedures made possible with advanced imaging to support cardiac catheterization. Many of our cardiology patients stay with us as they age into young adults. Some stay with us for life; others connect with cardiologists who care for adult patients with CHD, through innovative clinical care collaborations.

What causes congenital heart disease?

The vast majority of congenital heart defects have no known cause. Mothers will often wonder if something they did during the pregnancy caused the heart problem. In most cases, nothing can be attributed to the heart defect. Some heart problems do occur more often in families, so there may be a genetic link to some heart defects. Some heart problems are likely to occur if the mother had a disease while pregnant and was taking medications, such as antiseizure medicines or the acne medication isotretinoin. However, most of the time, there is no identifiable reason as to why the heart defect occurred.

Congenital heart problems range from simple to complex. Some heart problems can be watched by the baby's doctor and managed with medicines, while others will require surgery, sometimes as soon as in the first few hours after birth. A baby may even "grow out" of some of the simpler heart problems, such as patent ductus arteriosus or atrial septal defect. These defects may simply close up on their own with growth. Other babies will have a combination of defects and require several operations throughout their lives.

What does a healthy or normal heart look like?

Illustration of a healthy heart
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What are the different types of congenital heart defects?

We can classify congenital heart defects into several categories in order to better understand the problems the baby will experience. They include:

  • Problems that cause too much blood to pass through the lungs. These defects allow oxygen-rich blood that should be traveling to the body to recirculate through the lungs, causing increased pressure and stress in the lungs.

  • Problems that cause too little blood to pass through the lungs. These defects allow blood that has not been to the lungs to pick up oxygen (and, therefore, is oxygen-poor) to travel to the body. The body does not receive enough oxygen with these heart problems, and the baby will be cyanotic, or have a blue coloring.

  • Problems that cause too little blood to travel to the body. These defects are a result of underdeveloped chambers of the heart or blockages in blood vessels that prevent the proper amount of blood from traveling to the body to meet its needs.

Again, in some cases there will be a combination of several heart defects.
This creates a more complex problem that can fall into several of these categories.

Some of the problems that cause too much blood to pass through the lungs include the following:

  • Patent ductus arteriosus (PDA). This defect occurs when the normal closure of the patent ductus arteriosus, which is present in all fetuses, does not occur. Extra blood goes from the aorta into the lungs and may lead to "flooding" of the lungs, rapid breathing, and poor weight gain. PDA is often seen in premature infants.

Anatomy of a heart with a patent ductus arteriosus
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  • Atrial septal defect (ASD). In this condition, there is an abnormal opening between the two upper chambers of the heart—the right and left atria. This causes an abnormal blood flow through the heart. Some children may have no symptoms and appear healthy. However, if the ASD is large, permitting a large amount of blood to pass through the right side, symptoms will be noted.

Anatomy of a heart with an atrial septal defect
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  • Ventricular septal defect (VSD). In this condition, a hole in the ventricular septum (a dividing wall between the two lower chambers of the heart— the right and left ventricles) occurs. Because of this opening, blood from the left ventricle flows back into the right ventricle, due to higher pressure in the left ventricle. This causes an extra volume of blood to be pumped into the lungs by the right ventricle, which can create congestion in the lungs.

Anatomy of a heart with ventricular septal defect
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  • Atrioventricular canal (AVC or AV canal). AVC is a heart problem that involves several abnormalities of structures inside the heart. These include atrial septal defect, ventricular septal defect, and improperly formed mitral and/or tricuspid valves.

Anatomy of a heart with an atrioventricular canal defect
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Some of the problems that cause too little blood to pass through the lungs include the following:

  • Tricuspid atresia. In this condition, the tricuspid valve is completely  blocked. Therefore,  no blood flows from the right atrium to the right ventricle. Tricuspid atresia defect is characterized by the following:

    • A small right ventricle

    • Diminished pulmonary circulation

    • Cyanosis. A bluish color of the skin and mucous membranes caused from a lack of oxygen

    A surgical shunting procedure is often necessary to increase the blood flow to the lungs.

Anatomy of a heart with tricuspid atresia
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  • Pulmonary atresia. A congenital defect in which there is underdevelopment of the pulmonary valve. Normally, the pulmonary valve is found between the right ventricle and the pulmonary artery. It has three leaflets that function like a one-way door, allowing blood to flow forward into the pulmonary artery, but not backward into the right ventricle.
    With pulmonary atresia, problems with valve development prevent the leaflets from opening, therefore, blood cannot flow forward from the right ventricle to the lungs.

  • Transposition of the great arteries. With this congenital heart defect, the positions of the pulmonary artery and the aorta are reversed, thus:

    • The aorta originates from the right ventricle, so most of the blood returning to the heart from the body is pumped back out without first going to the lungs.

    • The pulmonary artery originates from the left ventricle, so that most of the blood returning from the lungs goes back to the lungs again

Anatomy of a heart with transposition of the great arteries
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  • Tetralogy of Fallot. This condition is characterized by the following four defects:

    1. An abnormal opening, or ventricular septal defect, that allows blood to pass from the right ventricle to the left ventricle without going through the lungs

    2. A narrowing (stenosis) at, or just beneath, the pulmonary valve that partially blocks the flow of blood from the right side of the heart to the lungs

    3. The right ventricle is more muscular than normal and often enlarged

    4. The aorta lies directly over the ventricular septal defect

    Tetralogy of Fallot can result in cyanosis (bluish color of the skin and mucous membranes due to lack of oxygen).

Anatomy of a heart with tetralogy of Fallot
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  • Double outlet right ventricle (DORV). A complex form of congenital heart defect, in which both the aorta and the pulmonary artery are connected to the right ventricle.

  • Truncus arteriosus. The aorta and pulmonary artery start as a single blood vessel, which eventually divides and becomes two separate arteries. Truncus arteriosus occurs when the single great vessel fails to separate completely.  This leaves a large connection between the aorta and the pulmonary artery.

Anatomy of a heart with truncus arteriosus
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Some of the problems that cause too little blood to travel to the body include the following:

  • Coarctation of the aorta (CoA). In this condition, the aorta is narrowed or constricted. This obstructs blood flow to the lower part of the body and increases blood pressure above the constriction. Usually there are no symptoms at birth, but they can develop as early as the first week of life. If severe symptoms of high blood pressure and congestive heart failure develop, surgery may be considered.

Anatomy of a heart with a coarctation of the aorta
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  • Aortic stenosis (AS). In AS, the aortic valve between the left ventricle and the aorta did not form properly and is narrowed. This makes it difficult for the heart to pump blood to the body. A normal valve has three leaflets or cusps, but a stenotic valve may have only one cusp (unicuspid) or two cusps (bicuspid).
    Although aortic stenosis may not cause symptoms, it may worsen over time. Surgery or a catheterization procedure may be needed to correct the blockage, or the valve may need to be replaced with an artificial one.

Illustration of aortic stenosis
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A complex combination of heart defects known as hypoplastic left heart syndrome can also occur.

  • Hypoplastic left heart syndrome (HLHS). A combination of several abnormalities of the heart and the great blood vessels. In HLHS, most of the structures on the left side of the heart (including the left ventricle, mitral valve, aorta, and aortic valve) are small and underdeveloped. The degree of underdevelopment differs from child to child. The left ventricle may not be able to pump an adequate blood volume to the body. HLHS is fatal without treatment.

Anatomy of a heart with hypoplastic left heart syndrome
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Improving Children’s Hearts With a Simple Test

Gerard R. Martin, MD, Co-Director of Children’s National Heart Institute, leads research demonstrating that pulse oximetry screening, a simple, inexpensive and non-invasive test performed in the first 24 hours of life, improves the early detection of critical CHD.

Dr. Martin, his colleagues from the program and Children’s Child Health Advocacy Institute, developed the Congenital Heart Disease Screening Program to educate health professionals and advocate for legislation to make pulse oximetry a routine newborn screening. To date, nearly 32 states have enacted such laws and more hospitals, and health centers in Canada, Mexico, Guatemala, Nigeria, the Netherlands, Spain, Morocco, India, Saudi Arabia, Kuwait and the United Arab Emirates, are using a toolkit we developed to implement CHD screening as standard practice. This early detection toolkit is changing how physicians across the country and around the world screen for critical CHD early in the patient’s life.

Researching the Links between CHD and Brain Development

Our teams are working at the intersection of cardiology and neurodevelopment. Blood circulation impacts oxygen supply to the brain, an essential consideration in all patients, but especially important prenatally and in newborns whose brains are developing rapidly.

Our team, is leading unique research to identify reliable early signs of prenatal brain injury caused by CHD. Her studies have shown for the first time that impaired brain development in fetuses with CHD occurs largely during the third trimester. Ongoing research will identify the earliest signs of impaired brain development, which may help define interventions to limit or even prevent impaired brain development prenatally or in newborns.



Who treats congenital heart defects?

Babies with congenital heart problems are followed by specialists called pediatric cardiologists. These doctors diagnose heart defects and help manage the health of children before and after surgical repair of the heart problem. Specialists who correct heart problems in the operating room are known as pediatric cardiovascular, or cardiothoracic surgeons.

A new subspecialty within cardiology is emerging, as the number of adults with congenital heart disease (CHD) is now greater than the number of babies born with CHD. This is a result of advances in diagnostic procedures and treatment interventions.

In order to achieve and maintain the highest possible level of wellness, it is imperative that individuals born with CHD, who have reached adulthood, transition to the appropriate type of cardiac care. The type of care required is based on the type of CHD a person has. Those with simple CHD can generally be cared for by a community adult cardiologist. Those with more complex types of CHD will need to be cared for at a center that specializes in adult CHD.

For adults with CHD, guidance is necessary for planning key life issues, such as college, career, employment, insurance, activity, lifestyle, inheritance, family planning, pregnancy, chronic care, disability, and end of life. Knowledge about specific congenital heart conditions, and expectations for long-term outcomes and potential complications and risks, must be reviewed as part of the successful transition from pediatric care to adult care. Parents should help pass on the responsibility for this knowledge, and accountability for ongoing care to their young adult children. This will help ensure the transition to adult specialty care and will optimize the health status of the young adult with CHD.



Cardiac Neurodevelopmental Outcome Program

Our cardiac neurodevelopmental program, the only one of its kind in the region, monitors cognitive development in babies born with congenital heart disease.

Washington Adult Congenital Heart Program (WACH)

Together with Washington Hospital Center, we provide specialized care to adults living with congenital heart disease so they can live healthy, full lives.


Our electrophysiologists, national leaders in pediatric arrhythmias, provide advanced treatment for babies and children with complex heart rhythm disorders.

Critical Care Medicine

With the only pediatric, cardiac, and neuro intensive care units in the immediate Washington, DC, area, Children’s National Health System is the region’s leading provider of critical care medicine for seriously ill and injured infants and children.

Cancer Genetics Program

Our cancer genetics experts help answer important questions about your child’s inherited risk for cancer.


The pediatric heart experts at Children’s National in Washington, DC, provide advanced care for unborn babies, children and young adults with heart conditions.


Whether your infant has arrived prematurely or has a critical illness, the Children’s National team assists in coordinating every service you and your baby need, including consultations, assessments, emergency treatments, and continuing care.

Children's National Heart Institute

Our expert pediatric heart team, including more than 40 subspecialties, offer advanced heart care and excellent outcomes for thousands of children every year.

Genetics and Metabolism

With more than 4,000 visits annually and 12 physicians, Children’s National is now the largest clinical genetics program in the United States.

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Xiomara's Story

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When Xiomara's mother Elena was 20 weeks pregnant, her ultrasound uncovered something that didn’t look right. Elena was referred to Children’s National Health System to meet with Mary Donofrio, MD, in the Fetal Heart Program who flagged a few potential heart issues and continued to monitor Xiomara throughout the remainder of the pregnancy.

Read More of Xiomara's Story