Article: Congenital Heart Disease

What Is Congenital Heart Disease?

The term "congenital heart disease" indicates that a structural problem (or defect) in a baby's heart is present at birth. A baby's heart begins to form shortly after conception. By the end of the 2nd month of pregnancy, the baby's heart is completely formed. It is during this time that a congenital heart defect can occur. In this case, a part of the heart, heart valves, and/or blood vessels near the heart do not develop properly. When this happens, blood flow can:

• Slow down
• Go in the wrong direction or to the wrong place
• Be blocked completely.

Congenital heart disease is the most common type of major birth defect. More than 30,000 babies are born with a congenital heart defect in the United States each year.

Types of Congenital Heart Defects

There are many types of congenital heart defects. They are:

• Abnormal passages in the heart or between blood vessels
• Problems with the heart valves
• Problems with the placement or development of blood vessels near the heart
• Problems with development of the heart itself.

To better understand the effects of these problems, go to the section on "How the Heart Works."

Some of these problems are described below.

Abnormal Passages in the Heart or Blood Vessels

• Atrial septal defect (ASD) is a hole in the wall that separates the upper chambers (atria) of the heart. This causes blood to leak from one atrium to the other.
  
  
• Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles) of the heart. This causes blood to leak from one ventricle to the other.
  
  
• Atrioventricular septal defect (AVSD) includes an ASD, VSD, and abnormal development of the atrioventricular valves (tricuspid and mitral). This causes blood to flow abnormally inside the heart. An AVSD is also known as an atrioventricular canal defect.
  
  
• Patent ductus arteriosus (PDA) is a persistent connection between the aorta and the pulmonary artery. This connection is called the ductus arteriosus and is normally present before birth. In most babies, the vessel closes within a few hours to days after birth. In some children, this vessel fails to close.

Problems with the Heart Valves

Heart and valve abnormalities can affect any of the valves and include the following:

• Stenosis: The valve opening is narrow and does not open completely.
  
  
• Atresia: The valve is not formed so that there is not communication for blood to pass from one chamber to another.
  
  
• Regurgitation: The valve does not close completely causing blood to leak back.

Examples of heart valve problems include:

• Aortic valve stenosis is a defect of the aortic valve in the heart that often causes it to open incompletely. This reduces blood flow to the body.
  
  
• Pulmonary valve atresia is a defect where a solid sheet of tissue forms instead of the pulmonary valve. This prevents oxygen-poor blood in the right side of the heart from traveling normally to the lungs to pick up oxygen.
  
  
• Pulmonary valve stenosis is a narrowing of the pulmonary valve. This slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening to the lungs where the blood picks up oxygen.
  
  
• Tricuspid atresia is a defect where a solid sheet of tissue forms instead of the tricuspid valve. The tricuspid valve is between the right atrium (the upper chamber) and right ventricle (the lower chamber) of the heart. Without the tricuspid valve, oxygen-poor or blue blood entering the right atrium cannot travel normally to the lungs to pick up oxygen.
  
  
• Ebstein's anomaly is a defect where the tricuspid valve is both displaced and abnormally formed. The valve is leaky and allows blue blood to flow back into the right atrium instead of to the lungs to pick up oxygen.

Problems with Placement or Development of Blood Vessels near the Heart

• Transposition of the great vessels is a defect where the location of the "great vessels" (the aorta and pulmonary artery) coming off the heart is switched. The aorta comes off the right ventricle instead of the left ventricle. The pulmonary artery arises from the left ventricle instead of the right ventricle. Therefore, blood without oxygen is continually pumped to the body, instead of blood with oxygen.
  
  
• Tetralogy of Fallot is a combination of four defects:
• Pulmonary valve stenosis is the narrowing of the pulmonary valve that slows the flow of blood from the right ventricle to the lungs.
• VSD is a hole in the wall that separates the left and right ventricles.
• Overriding aorta is a defect where the aorta is positioned between the left and right ventricles, over the VSD.
• Right ventricular hypertrophy is the thickening of the right ventricle. It is caused by the heart having to work harder because of the other defects.
  
  
• Truncus arteriosus is a defect of the great vessels (aorta and pulmonary artery). The aorta and pulmonary artery do not form as separate arteries. Instead, a large artery, called the truncus, comes from the heart. As the truncus leaves the heart, it may branch into arteries that carry blood to the body and to the lungs.
  
  
• Coarctation of the aorta is a narrowing of the aorta. It slows or blocks the flow of blood from the heart to the body.
  
  
• Anomalous pulmonary venous return is a defect where 1 or more of the 4 pulmonary veins that normally return oxygen-rich or red blood from the lungs to the heart, return to the wrong chamber in the heart.

Problems with Development of the Heart

• Hypoplastic left heart syndrome* is a combination of defects where the left side of the heart does not develop properly. Usually there is mitral atresia, aortic atresia, and a tiny left ventricle.
• Mitral atresia occurs when a solid sheet of tissue forms instead of the mitral valve, which separates the left atrium and the left ventricle.
• Aortic atresia occurs when a solid sheet of tissue forms instead of the aortic valve, which separates the left ventricle from the aorta.
  
  
• Single ventricle* describes a group of heart defects where only one ventricle is present instead of two. It can be a single right or a single left ventricle. The other ventricle is usually absent or very tiny. Hypoplastic left heart syndrome is an example of a single ventricle defect.

Today, the outlook for an infant born with a heart defect is much better than it was 30 years ago. Rapid advances in infant and childhood surgery, better tests, and new medicines help most children with congenital heart defects. Many children born with more complex or severe heart defects now reach adulthood. Today, there are more than 1 million adults living with congenital heart disease.

Other Names for Congenital Heart Disease

• Congenital heart defects
• Cyanotic heart disease
• Heart defects
• Congenital cardiovascular malformations

How the Heart Works

The heart is a muscle about the size of your fist. It works like a pump and beats 100,000 times a day.

The heart has 2 sides, separated by an inner wall called the septum. The right side of the heart pumps blood to the lungs to pick up oxygen. Then, oxygen-rich blood returns from the lungs to the left side of the heart, and the left side pumps it to the body.

The heart has 4 chambers and 4 valves, and is connected to various blood vessels. Veins are the blood vessels that carry blood from the body to the heart, while arteries are the vessels that carry blood away from the heart to the body.

Heart Chambers

The heart has 4 chambers or "rooms,"--2 on the left side of the heart and 2 on the right.

• The atria (AY-tree-uh) are the two upper chambers that collect blood as it comes into the heart.
• The ventricles (VEN-trih-kuls) are the two lower chambers that pump blood out of the heart to the lungs or other parts of the body.

Heart Valves

Four valves control the flow of blood from the atria to the ventricles and from the ventricles into the two large arteries connected to the heart.

The four valves are:

• The tricuspid (tri-CUSS-pid) valve in the right side of the heart, between the right atrium and the right ventricle
• The pulmonary (PULL-mun-ary) valve in the right side of the heart, between the right ventricle and the entrance to the pulmonary artery that carries blood to the lungs
• The mitral (MI-trul) valve in the left side of the heart, between the left atrium and the left ventricle
• The aortic (ay-OR-tik) valve in the left side of the heart, between the left ventricle and the entrance to the aorta, the artery that carries blood to the body.

Valves are like doors that open and close. They open to allow blood to flow through to the next chamber or to one of the arteries, and then they shut to keep blood from flowing backwards.

When your heart's valves open and close, they make the familiar "lub-DUB" or "lub-DUPP" sounds that your doctor can hear using a stethoscope.

• The first sound is made by the mitral and tricuspid valves closing at the beginning of systole (SIS-toe-lee). Systole is when the heart contracts, or squeezes, and pumps blood out of the heart.
• The second sound is made by the aortic and pulmonary valves closing at beginning of diastole (di-AS-toe-lee). Diastole is when the heart relaxes and fills with blood.

Arteries

The arteries are major blood vessels connected to your heart.

• The pulmonary artery carries blood pumped from the right side of the heart to the lungs to pick up a fresh supply of oxygen.
• The aorta is the main artery that carries oxygen-rich blood pumped from the left side of the heart out to the body.
• The coronary arteries are the other important arteries attached to the heart. They carry oxygen-rich blood from the aorta to the heart muscle, which must have its own blood supply to function.

Veins

The veins are also major blood vessels connected to your heart.

• The pulmonary veins carry oxygen-rich blood from the lungs to the left side of the heart so it can be pumped out to the body.
• The vena cava is a large vein that carries oxygen-poor blood from the body back to the heart.

What Causes Congenital Heart Disease?

Doctors do not know what causes most cases of congenital heart disease. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition.

Babies who have certain other birth defects, such as Down syndrome, are also more likely to have congenital heart disease.

Other factors that raise the risk for congenital heart disease are:

• Having viral infections such as German measles during pregnancy
  
  
• Having diabetes
  
  
• Taking some types of prescription or over-the-counter medications during pregnancy
  
  
• Being repeatedly exposed to some chemicals or x-rays during pregnancy
  
  
• Using alcohol or street drugs during pregnancy.

Research continues to find the causes of congenital heart defects.

What Are the Signs and Symptoms of Congenital Heart Disease?

The most common signs and symptoms of congenital heart disease are:

• A heart murmur
  
  
• A bluish tint to skin, lips, and fingernails ("blue baby")
  
  
• Fast breathing
  
  
• Shortness of breath
  
  
• Poor feeding, especially in infants because they tire easily while nursing
  
  
• Poor weight gain in infants
  
  
• Tiring easily during exercise or activity (older children).

The signs and symptoms that your child has depends on:

• The number and types of defects
  
  
• The severity of the defect.

Some infants and children have no signs or symptoms. Others have severe or life-threatening symptoms. Go to the "What Is Congenital Heart Disease" section for more details about the signs and symptoms of each type of congenital heart defect.

Many types of congenital heart defects cause the heart to work harder than it should. This stresses the heart and can lead to heart failure, causing the heart muscle to weaken and the heart to enlarge.

How is Congenital Heart Disease Diagnosed?

Doctors usually diagnose congenital heart disease during pregnancy or within the first few months after birth. Some children with less severe defects are not diagnosed until they are older and more demands are put on their hearts. Others are not diagnosed until they are adults.

If your child's doctor suspects a congenital heart defect, he or she will refer your child to a specialist who treats heart problems in children. The specialist, a pediatric cardiologist, will take a family and medical history, do a physical examination, and order several tests.

Physical Examination

During the physical examination, the doctor:

• Listens to your child's heart with a stethoscope for a heart murmur
• Looks for signs of illness or physical problems such as bluish color of skin and lips, shortness of breath, rapid breathing, and delayed growth
• Listens to your child's lungs.

Testing

An echocardiogram is the test most often used to diagnose congenital heart disease. This test uses sound waves to create a picture of the heart. An echocardiogram helps diagnose heart failure and problems with how the heart is formed.

During pregnancy, if your doctor suspects that your baby has a congenital heart disease, a special test called a fetal echocardiogram can be done. This test uses sound waves to create a picture of the baby's heart while still in the womb. It is usually done during the 5th month of pregnancy. If your child is diagnosed with a congenital heart disease before birth, your doctor can plan treatment before the baby is born.

Other tests used to help diagnose congenital heart diseases include:

• EKG or ECG (electrocardiogram). This test measures the rate and regularity of your child's heartbeat.
  
  
• Chest x-ray. A chest x-ray takes a picture of your child's heart and lungs. It can show if your child's heart is enlarged or if there is any fluid in your child's lungs.
  
  
• Pulse oximetry (ok-sim-eh-tree). This test uses a sensor to see how well your child's lungs are passing oxygen to the blood and whether or not there is any mixing of red (oxygenated) blood and blue (de-oxygenated) blood. The sensor is placed on the child's fingertip or toe (like a bandaid). A small computer unit shows the amount of oxygen in the blood through the skin. This test does not hurt.
  
  
• Cardiac catheterization. In this test, a thin flexible tube is passed through an artery or vein at the top of the leg (groin) or in the arm to reach the heart. With the assistance of x-rays, your child's doctor can then see the child's blood vessels and heart. The catheter also measures the pressure inside the heart and blood vessels and can determine if blood is mixing between the two sides of the heart. Sometimes, a dye that can be seen by x-ray is injected into the heart. This enables your doctor to see the flow of blood throughout the heart and blood vessels.

How is Congenital Heart Disease Treated?

Doctors treat congenital heart disease with:

• Medications
  
  
• Special procedures using catheters
  
  
• Surgery
  
  
• Heart transplants.

The treatment your child receives depends on the type and severity of the defect. Other factors include your child's age, size, and general health. Treatment can be simple or very complex. Many children are treated with medications and are monitored by their doctor. Other children may need surgery.

Medications

Your child may take one or more of the following medications to help the heart work better and lessen symptoms:

• Digoxin is thought to improve heart function and can keep the heartbeat regular.
  
  
• Diuretics treat the buildup of fluid in the heart and body.
  
  
• ACE inhibitors decrease the work the heart has to do and may help remodel the heart and blood vessels to work more efficiently.
  
  
• Beta-blockers slow the heart rate and lower blood pressure to decrease the workload on the heart.
  
  
• Inotropes strengthen the heart's pumping ability.
  
  
• Prostaglandin E1 is used to keep the ductus arteriosus open in some defects until corrective surgery can be performed. This improves blood flow and oxygen levels until the defect is corrected. The ductus arteriosus normally closes within a few days after birth.

Special Procedures Using Catheters

Doctors can correct some congenital heart diseases during cardiac catheterization. These are called catheter-based procedures or interventions. They can be used instead of open-heart surgery, which is a major operation. A catheter is inserted through blood vessels in your child's groin. It is then threaded to the heart where some holes in the interior walls of the heart can be fixed, a patent ductus can be closed, and narrow valves and blood vessels can be opened up. Interventional catheterization:

• Does not require your child's chest to be opened
  
  
• Lets your child recover quickly
  
  
• Has different risks than open heart surgery.

Surgery

Your child may need open-heart surgery if the defect cannot be repaired using a catheter-based procedure. Some surgeries repair the defect completely. Other surgeries improve your child's health but do not completely repair the defect. Open-heart surgeries that may correct the defect include:

• Closing holes with sutures or with a patch
  
  
• Repairing valves
  
  
• Widening arteries or openings to valves
  
  
• Putting the great arteries (aorta and pulmonary artery) back to their normal position.

Sometimes, open-heart surgeries can improve a child's health but do not repair the problem. Examples include:

• Decreasing blood flow to the lungs by placing a band around the pulmonary artery
  
  
• Increasing blood flow to the lungs by connecting an artery from the aorta to the pulmonary artery
  
  
• Connecting the veins that bring back blue blood directly to the pulmonary artery in a 3-stage surgery when the right ventricle is not developed, e.g., Hypoplastic left heart syndrome

Heart Transplantation

Babies born with multiple defects that are too complex to repair may need a heart transplant. In this procedure, the child's heart is replaced with a healthy heart that has been donated.

How is Congenital Heart Disease Prevented?

There is no known way to prevent congenital heart disease, but there are things you can do to lower the chance that your baby will have a congenital heart defect. However, even by lowering the risks, your baby may still develop congenital heart disease.

If you are planning to become pregnant or are pregnant, talk to your doctor about any medications that you are taking, including:

• Over-the-counter medications
  
  
• Prescription medications
  
  
• Vitamin and mineral supplements
  
  
• Herbal supplements.

Your doctor will recommend that you take folate before you become pregnant. This is recommended mainly to prevent abnormalities in the baby's nervous system, but there is some evidence that it may also help prevent certain types of congenital heart defects.

You need to avoid:

• Strong chemicals, including some cleaning products
  
  
• Repeated x-rays
  
  
• Any harmful or poisonous materials.

If you or anyone in your family has congenital heart disease, genetic testing may be available. This may show a genetic cause for congenital heart disease. Testing cannot prevent congenital heart disease, but may be able to make you aware of the risks.

Living with Congenital Heart Disease

With new advances in testing and treatment, most children with congenital heart disease grow into adulthood and live productive lives. Some continue to need specialized care for survival and to maintain a good quality of life. Some may need multiple procedures including cardiac catheterizations and surgeries. Others may need pacemakers to help their heart beat properly.

For Parents

Mothers of children born with a heart defect often think that they did something during pregnancy to cause the problem. We do not know the cause of most cases of congenital heart disease. It is important that mothers know that they did not cause their child's illness.

Most children with congenital heart disease grow up to a healthy adulthood. Expect that your child will be productive and able to work. Only children with complex heart disease may continue to need special medical attention.

Treatment and care for your child in such cases can be costly. The cost of surgery and hospital stays is very high. Your health insurance may not pay for everything. Many parents need help to cover medical bills. You can get information from your doctor and hospital about how to apply for financial aid.

It is important that you keep your health insurance current. If you think of changing jobs, make sure that the health insurance at the new job will cover your child who has congenital heart disease. Some health insurance plans may not cover some medical conditions that you had before joining the new plan.

It is also very important for your child to have health insurance as adulthood approaches. Review your current health insurance plan. Find out how coverage can be extended beyond the age of 18. Some policies may allow you to keep your child on your plan if he or she remains in school or is disabled.

Caring for a child with a serious heart problem can be demanding. If both parents work, one of you may have to quit and stay home with your child if you cannot find suitable day care. The drain on your energy, emotions, and finances can be very stressful. Ask your child's doctor about support groups and other support in your area. Don't be shy about seeking counseling if the stress seems overwhelming.

General Issues

It is important for your child to have ongoing regular medical care. This includes:

• Following up with your child's heart specialist as directed
  
  
• Following up with your child's pediatrician or family doctor for routine exams
  
  
• Taking medications as prescribed.

You may consider having your child wear a medical alert bracelet or necklace. This tells anyone caring for your child that your child has a congenital heart disease.

Adults, teenagers, and children should have routine dental care to prevent infections of the mouth. Most people with congenital heart disease need to take antibiotics before a dental procedure, treatment, or cleaning. Talk to your doctor before going to the dentist.

Children with Congenital Heart Disease

Some children with congenital heart disease sometimes do not grow and develop as fast as other children the same age. Your child may be smaller and thinner than other children. Your child may also start activities like rolling over, sitting, and walking later than other children. After treatments and surgery, growth and development often improve.

Your child may need extra calories to grow. If your child's heart has to pump faster because of the defect, the body needs more energy to keep up the extra work. This may cause your child to tire quickly. Some babies are not able to eat enough because they tire while feeding. Older children also may tire before finishing a meal.

Exercise for Children

Exercise helps children strengthen their muscles and stay healthy. Your child may tire easily, so take frequent breaks and let your child rest during activities if necessary. Some children with congenital heart disease may need to limit the amount or type of exercise. Talk to your doctor about what is safe exercise for your child.

Remember to ask your doctor for a note for school and other organizations describing any limits on your child's exercise or physical activities.

Emotional Issues for Children

Children with a serious heart problem may have a hard time coping or feel isolated because they may have to be in the hospital frequently. Some children feel sad or frustrated with their body image and their inability to be a "normal" kid. Sometimes brothers or sisters are jealous of all the attention received by the child with congenital heart disease.

Parents may feel stress over financial and insurance issues. Your child may feel that he or she is the cause of this stress. Help your child by talking to him or her and allow your child to be involved in everyday activities. If you have concerns about your child's emotional health, talk to your child's doctor.

Teenagers with Congenital Heart Disease

The teenage years are difficult for most children. It is a time of risk taking, and denial is often used as a way of coping. There is pressure to be like other teenagers. Some teenagers with congenital heart disease still need specialized care and must take medicine on a regular basis. Help your teenager cope with the stresses of growing up with a serious health problem. Remind your teenager that with proper care, he or she can grow up healthy and participate in most, if not all, activities.

Let your teenager help make decisions about medical care. This fosters independence and encourages regular follow up with the doctor.

Many teenagers with congenital heart disease can participate in organized sports. Restrictions of activity vary depending on the teenager, the type of sport, and the type of heart disease. Some children need to limit the amount of activity while others need to avoid contact sports. Your doctor can help you and your teenager decide which sports activities are right for him or her.

It is important that your teenager gets a good education. As an adult, your son or daughter may not be able to have jobs that require strenuous work, long work hours, and exposure to extreme temperatures if he or she has a serious heart problem. Getting a good education and advanced job training "opens the door" to the kinds of jobs that are ideal for those who cannot do strenuous work.

Overall, parents should be aware that the vast majority of children born with congenital heart disease live normal, healthy lives and should be encouraged to do so.

Adults with Congenital Heart Disease

Today, most babies born with a heart defect will live to be adults. Many of these adults believe that the surgery they had in childhood was a "cure" and do not understand that regular medical follow up is needed to maintain good health and survival.

Adults with congenital heart disease should carefully consider changing jobs because health insurance benefits may change. Some health plans have waiting periods or clauses to exclude some kinds of coverage. Before making any job changes, find out if the change will affect your health insurance.

There are laws that protect people with congenital heart disease who are having trouble getting a job. The Americans with Disabilities Act and Work Incentives Improvement Act try to ensure equal hiring for all people, including those with health conditions.

Pregnancy and Congenital Heart Disease

Women with congenital heart disease who want to become pregnant (or who are pregnant) need to:

• Talk to their doctor about health risks during pregnancy
  
  
• Talk to their doctor about medications that can be taken during pregnancy
  
  
• Consult with specialists who take care of pregnant women with these health conditions.

Summary

• Congenital heart disease describes several problems (or defects) that are present at birth.
  
  
• The defects occur during the development of a baby's heart. A part of the heart, heart valves, and/or blood vessels near the heart do not develop properly.
  
  
• Congenital heart defects can cause blood flow to:
• Slow down
• Go in the wrong direction or to the wrong place
• Be blocked completely.
  
  
• Congenital heart disease is the most common type of major birth defect. More than 30,000 babies are born in the United States each year with a congenital heart defect.
  
  
• There are many types of congenital heart defects. They are due to:
• Holes in the wall of the heart or blood vessels
• Problems with the heart valves
• Problems with the placement or development of blood vessels near the heart
• Problems with development of the heart itself.
  
  
• Doctors do not know what causes most cases congenital heart disease. Heredity may play a role.
  
  
• The most common signs and symptoms of congenital heart disease are:
• A bluish tint to skin, lips, and fingernails ("blue baby")
• A heart murmur
• Fast breathing
• Shortness of breath
• Poor feeding, especially in infants because they tire easily while nursing
• Poor weight gain in infants
• Tiring easily during exercise or activity (older children).
  
  
• Doctors usually diagnose congenital heart disease while the child is still very young. Some children will live for years before it is diagnosed. In some cases, congenital heart disease can be diagnosed before the baby is born.
  
  
• An echocardiogram is the test most often used to diagnose congenital heart disease. It helps diagnose heart failure and problems with how the heart is formed.
  
  
• Doctors treat congenital heart disease with:
• Medications
• Special procedures using catheters
• Surgery
• Heart transplants.
  
  
• The treatment your child receives depends on the type and severity of the defect. Other factors include your child's age, size, and general health.
  
  
• With new advances in testing and treatment, many children with congenital heart disease grow into adulthood and live productive lives. Some continue to need specialized care for survival and to maintain a good quality of life.

Source: National Heart, Lung and Blood Institute
Cache Date: December 10, 2004