Congenital Heart Disease

Congenital heart disease affects the structure of the heart from birth, making it the most common type of birth defect. While some heart problems are mild and require little treatment, others are life-threatening and demand immediate medical attention. Thanks to advances in diagnosis and treatment, most children born with these conditions now survive into adulthood.

Table of contents

• What is congenital heart disease?
• Types of congenital heart disease
• How common is congenital heart disease?
• Signs and symptoms
• Causes and risk factors
• Diagnosis
• Treatment
• Living with congenital heart disease

What is congenital heart disease?

Congenital heart disease (CHD) refers to problems with the structure of the heart that are present at birth. The word congenital means that you are born with the condition^[1]. These problems affect how blood flows through the heart and out to the rest of the body^[7].

A baby’s heart begins to develop at conception and is completely formed eight weeks into the pregnancy. Congenital heart defects happen during these first eight weeks of the baby’s development^[9]. These issues can include a hole in the heart wall, problems with blood vessels (too many or too few, blood flowing too slowly, to the wrong place, or in the wrong direction), or problems with heart valves that control blood flow^[1].

Some cases of CHD are simple and may not cause any symptoms. But others can be life-threatening and require treatment in infancy^[1]. Healthcare providers can detect heart defects early, either before or shortly after birth. However, sometimes people don’t receive a CHD diagnosis until childhood, adolescence, or even adulthood^[1].

Types of congenital heart disease

There are many different types of congenital heart defects. Understanding these categories helps explain the problems a baby may experience^[9]. Congenital heart disease can be classified into two main groups^[1]:

Cyanotic congenital heart disease involves low oxygen in the blood. These heart problems reduce the amount of oxygen the heart can deliver to the rest of the body. Babies born with cyanotic congenital heart disease usually have low levels of oxygen and need surgery^[1]. Examples include:

• Left heart obstructive lesions: These reduce blood flow between the heart and the rest of the body. Examples include hypoplastic left heart syndrome (when the heart is too small on the left side) and interrupted aortic arch (when the aorta is incomplete)^[1].
• Right heart obstructive lesions: These reduce blood flow between the heart and lungs. Examples include tetralogy of Fallot (a group of four abnormalities), Ebstein’s anomaly, pulmonary atresia, and tricuspid atresia (valves that don’t develop correctly)^[1].
• Mixing lesions: The body mixes blood that should go to the body with blood that should go to the lungs. One example is transposition of the great arteries, which means the two main arteries leaving the heart are in the wrong place. Another is truncus arteriosus, when the heart has only one main artery instead of two to carry blood to the body^[1].

Acyanotic congenital heart disease involves blood oxygen levels that are acceptable, but blood pumps through the body in an abnormal way^[1]. Examples include:

• Hole in the heart: One of the heart’s walls can have an abnormal opening. Depending on the location of the hole, this may be called atrial septal defect, atrioventricular canal, patent ductus arteriosus, or ventricular septal defect^[1].
• Problem with the aorta: The aorta is the main artery that carries blood away from the heart to the rest of the body. It can be too narrow (aortic coarctation). The aortic valve may be restricted in opening or have only two flaps instead of three (called bicuspid aortic valve)^[1].
• Problem with the pulmonary artery: The pulmonary artery carries blood from the right side of the heart to the lungs to get oxygen. If this artery is too narrow, it’s called pulmonary artery stenosis^[1].

Some defects allow too much blood to pass through the lungs. These defects permit oxygen-rich blood that should be traveling to the body to recirculate through the lungs, causing increased pressure and stress^[9]. Other defects allow too little blood to pass through the lungs. Blood that has not been to the lungs to pick up oxygen travels to the body, and the baby will appear bluish in color^[9]. Still other defects mean too little blood travels to the body due to underdeveloped heart chambers or blockages in blood vessels^[9].

How common is congenital heart disease?

Congenital heart disease is the most common type of birth defect. In the United States, heart defects affect nearly 1% of births, or about 40,000 babies each year^[8]. CHDs affect 1% of U.S. births^[1]. One out of every 100 infants born in the United States has a congenital heart defect^[9].

About 1 in 4 babies born with a heart defect has a critical heart defect. These babies need surgery or other procedures in the first year of life^[8]. Additionally, 25% of babies born with a complex CHD will not see their first birthday^[5].

Signs and symptoms

Congenital heart disease symptoms may start as soon as a baby is born or may not appear until later in life^[1]. Congenital heart defects don’t cause pain^[6]. The signs and symptoms vary depending on the type and number of defects and how serious they are^[6].

Common signs and symptoms include^[1][6]:

• Cyanosis: A bluish color to the skin, lips, and fingernails. It happens when there isn’t enough oxygen in the blood.
• Fatigue: The baby may be unusually sleepy and may become very tired during feedings.
• Fast or difficult breathing
• Poor blood flow
• Heart murmur: An unusual sound between heartbeats

Some babies with heart defects might be smaller and thinner than other children. Some might become tired while feeding and may not eat enough to gain weight. Some may burn more calories because their heart is working extra hard to compensate for having a defect. After treatment, children’s growth and weight gain often improve^[9].

Causes and risk factors

Doctors often do not know what causes congenital heart defects. Researchers do know that changes in a baby’s genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy^[6][7].

Several things may increase the chance that a baby has a congenital heart defect^[6]:

Maternal health before and during pregnancy:

• Having diabetes before pregnancy or developing it in the first 3 months of pregnancy. Carefully controlling blood glucose before and during pregnancy can lower the baby’s risk of congenital heart defects.
• Having phenylketonuria (PKU), a rare inherited disorder that affects how the body uses a protein in foods. Eating a low-protein diet before getting pregnant can lower the baby’s risk of having a congenital heart defect.
• Having rubella (German measles) during pregnancy

Contact with certain substances during pregnancy:

• Smoking or breathing secondhand smoke
• Certain medicines, such as ACE inhibitors for high blood pressure and retinoic acids for acne. If you’re pregnant or plan to get pregnant, talk with your healthcare provider about all the medicines you take^[6].

Family history and genetics: In most cases, congenital heart defects don’t run in families. But your chance of having a baby with a congenital heart defect does go up if you or the other parent has a congenital heart defect, or if you already have a child with a congenital heart defect^[6].

Diagnosis

Some heart defects can be found during pregnancy using a special type of ultrasound called a fetal echocardiogram. Other heart defects aren’t detected until birth or later in life, during childhood or adulthood^[8].

After birth, newborn screening for critical heart defects can help identify babies whose heart defects were not detected during pregnancy. This screening involves a simple bedside test called pulse oximetry. This test estimates the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of a critical heart defect. Screening newborns for heart defects enables them to be treated early and may prevent other health problems or early death^[8].

Congenital heart disease is often first detected when a doctor hears an abnormal heart sound or heart murmur when listening to the heart^[5]. If a healthcare provider suspects a defect, several tests can be done to confirm the diagnosis^[8], including:

• Echocardiogram: Uses sound waves to create pictures of the beating heart
• Electrocardiogram (ECG/EKG): Records the electrical activity of the heart
• Cardiac catheterization: A thin tube is inserted into a blood vessel to examine the heart
• Chest X-ray
• Magnetic resonance imaging (MRI): Creates detailed images of the heart
• Other diagnostic testing^[5]

Treatment

The type of treatment depends on which type of congenital heart defect you or your baby has and how serious it is. Most simple congenital heart defects will get better over time and do not require treatment at all^[14]. However, critical congenital heart defects often require treatment^[14].

Medicines: Medicine is often used if a baby has patent ductus arteriosus. Usually, this condition goes away on its own, but sometimes medicine is needed to close it in premature infants. Indomethacin or ibuprofen triggers the opening to tighten and close. Acetaminophen is sometimes used as well^[14].

Procedures: Cardiac catheterization is a common procedure sometimes used to repair simple heart defects, such as atrial septal defect and patent ductus arteriosus, if they don’t get better on their own. It may also be used to open heart valves or blood vessels that are too narrow. In this procedure, a thin, flexible tube called a catheter is put into a blood vessel in the groin or neck and threaded to the heart. Possible risks include bleeding, infection, and pain where the catheter was inserted, and damage to blood vessels^[14].

A procedure called balloon valvuloplasty is often recommended for children and younger people with narrowed valves. During this procedure, a small tube (catheter) is passed through the blood vessels to the site of the narrowed valve. A balloon attached to the catheter is inflated, which helps to stretch or widen the valve and relieve any blockage in blood flow^[15].

Surgery: In heart surgery, a surgeon opens the chest to work directly on the heart. Surgery may be required for many reasons, such as to repair a hole in the heart, repair a patent ductus arteriosus, or repair or replace heart valves^[14]. If treatment is required but balloon valvuloplasty is ineffective or unsuitable, it’s usually necessary to remove and replace the valve using open heart surgery^[15].

In certain very severe situations, if surgery can’t be performed, a heart transplant may be indicated^[13].

Living with congenital heart disease

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^[19]. Scientists estimate that more than 2 million people in the United States are living with a heart defect^[20].

Lifelong care: Though treatments have improved, many people with a heart defect are not cured, even if their heart defect has been repaired. People with a heart defect can develop other health problems over time, depending on their specific heart defect, the number of heart defects they have, the severity of their heart defect, and ongoing appropriate medical care^[20]. Routine checkups with a heart doctor (cardiologist) can help people with heart defects stay as healthy as possible^[8].

Regular checkups: Adults who have congenital heart disease need routine checkups. You should have a primary care doctor and might also need to see your cardiologist regularly, such as once a year^[22]. Most people need to be seen at least once per year, though the frequency varies based on the specific condition^[23].

Preventing infections: You may have a higher risk of an infection in your heart called endocarditis. Talk to your doctor about your own risk. You may need to take antibiotics before certain dental or surgical procedures to prevent infection. Also, take good care of your teeth and gums^[22].

Physical activity: Most people with congenital heart defects can be physically active and get regular exercise. Physical activity can help the heart become strong. However, some may need to restrict the type or intensity of exercise depending on the type of heart problem and how severe it is. Your doctor can tell you if you should limit activity or sports and can help make an exercise program that is enjoyable and safe^[19][22].

Heart-healthy lifestyle:

• Eat heart-healthy foods, including vegetables, fruits, nuts, beans, lean meat, fish, and whole grains
• Limit alcohol, sodium, and sugar
• Take your medicines exactly as prescribed
• Lose weight if you need to, and stay at a healthy weight
• Don’t smoke
• Manage other health problems such as high blood pressure, high cholesterol, and diabetes^[22]

Avoiding infections: Get the flu vaccine every year. Talk with your doctor about getting a pneumococcal vaccine. Stay up to date on your COVID-19 vaccines^[22].

Mental health: Let your doctor know if you’re feeling sad or hopeless much of the time or if you are worried and anxious. Having heart disease can be hard on your emotions. Treatment with counseling and medicine can help^[22].

Birth control and pregnancy: If you can become pregnant and don’t want to be, think about using a form of birth control that poses the lowest risk to your health. Talk with your family doctor, gynecologist, or cardiologist about the right options for you. If you have congenital heart disease or have a partner who has it, consider what is the risk of passing a heart problem to your child and what are the possible health risks during pregnancy^[22].

Know your condition: Children and adults with heart defects can help with their health care by knowing their medical history, including the type(s) of heart defect(s) they have, procedures or surgeries they have had performed, medicines and doses of current and past prescribed medicines, and type(s) of medical care they are receiving now. As children transition to adult health care, it is important to notify any new healthcare provider(s) about the child’s heart defect^[20].