Congenital Heart Defect

What Is a Congenital Heart Defect?

A congenital heart defect is a structural problem (or defect) in the heart that is present at birth. A baby's heart begins to develop shortly after conception. During development, structural defects can occur. These defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. Congenital heart defects can disrupt the normal flow of blood through the heart. The blood flow can:

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

Congenital heart defect is the most common type of major birth defect. Each year, more than 30,000 babies in the United States are born with congenital heart defects.

Types of Congenital Heart Defects

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

• 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

Some of these problems are described below.

Abnormal passages in the heart or between blood vessels

• Atrial septal defect (ASD) is a hole in the wall that separates the upper chambers (atria (AY-tree-uh)) 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 (VEN-trih-kuls)) 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 (tri-CUSS-pid) and mitral (MI-trul)). 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 (PULL-mun-ary) artery. This connection is called the ductus arteriosus and is normally present before birth. In most babies, the vessel closes within a few hours or days after birth. In some children, the vessel fails to close, resulting in PDA.

Problems with the heart valves

Congenital heart defects can involve any of the valves and include the following types of problems:

• Stenosis. The valve opening is narrow and does not open completely.
• Atresia. The valve does not form, so there is no opening for blood to pass from one chamber to another.
• Regurgitation. The valve does not close completely, so blood can leak back through the valve.

Examples of particular heart valve problems include:

• Aortic valve stenosis is a narrowing of the aortic (ay-OR-tik) valve in the heart that causes it to open incompletely. This can reduce blood flow to the body.
• Pulmonary valve atresia is a defect in which a solid sheet of tissue forms in place of the pulmonary valve. This prevents blood in the right side of the heart from travelling normally to the lungs to pick up oxygen.
• Pulmonary valve stenosis is a narrowing of the pulmonary valve. The narrowing 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.
• Tricuspid valve atresia is a defect in which a solid sheet of tissue forms in place of the tricuspid valve. Without the tricuspid valve, blood entering the right atrium cannot travel normally to the right ventricle and then to the lungs to pick up oxygen.
• Ebstein's anomaly is a defect in which the tricuspid valve is both displaced and abnormally formed. The valve leaks and allows 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 in which 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 comes off 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. The narrowing 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 in which the aorta is positioned between the left and right ventricles, over the VSD.
  • Right ventricular hypertrophy is the thickening of the right ventricle. The thickening is caused by the heart having to work harder because of the other defects.

• Truncus arteriosus is a defect of the great vessels. 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 in which one or more of the four pulmonary veins, which normally return oxygen-rich 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 in which the left side of the heart does not develop properly. Defects usually include 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 in which 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 defects.

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 two 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 four chambers and four valves and is connected to various blood vessels. Veins are the blood vessels that carry blood from the body to the heart. Arteries are the vessels that carry blood away from the heart to the body.

Heart Chambers

The heart has four chambers or "rooms"—two on the left side of the heart and two on the right.

• The atria are the two upper chambers that collect blood as it comes into the heart.
• The ventricles 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 tricuspid valve is in the right side of the heart, between the right atrium and the right ventricle.
• The pulmonary valve is 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 valve is in the left side of the heart, between the left atrium and the left ventricle.
• The aortic valve is 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 the heart's valves open and close, they make a "lub-DUB" sound that a doctor can hear by using a stethoscope.

• The first sound—the "lub"—is made by the mitral and tricuspid valves closing at the beginning of systole. Systole (SIS-toe-lee) is when the ventricles contract, or squeeze, and pump blood out of the heart.
• The second sound—the "DUB"—is made by the aortic and pulmonary valves closing at beginning of diastole. Diastole (di-AS-toe-lee) is when the ventricles relax and fill with blood pumped into them by the atria.

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.

Other Names for Congenital Heart Defects

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

What Causes Congenital Heart Defects?

Doctors do not know what causes most cases of congenital heart defects. 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 defects.

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

• Having viral infections, such as German measles (rubella), during pregnancy
• Having diabetes
• Taking some types of prescription or over-the-counter medicines 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 Defects?

The most common signs and symptoms of congenital heart defects 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 a child has depend 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.

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 Are Congenital Heart Defects Diagnosed?

Doctors usually diagnose congenital heart defects 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 paediatric cardiologist, will take a family and medical history, do a physical exam, and order several tests.

Physical Exam

During the physical exam, 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 colour of skin and lips, shortness of breath, rapid breathing, and delayed growth
• Listens to your child's lungs

Tests

An echocardiogram is the test most often used to diagnose congenital heart defects. 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 defect, a special test called a foetal echocardiogram can be done. This test uses sound waves to create a picture of the baby's heart while he or she is still in the womb. The test is usually done during the fifth month of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.

Other tests used to help diagnose congenital heart defects include:

• ECG or EKG (electrocardiogram). An ECG 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 the heart is enlarged or if there is fluid in the 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 there is any mixing of oxygen-rich and oxygen-poor blood. The sensor is placed on the child's fingertip or toe (like an adhesive bandage). A small computer unit shows the amount of oxygen in the blood through the skin. The test does not hurt.
• Cardiac catheterisation. In this test, a thin flexible tube is passed through an artery or vein at the upper thigh (groin) or in the arm to reach the heart. With the assistance of x rays, the doctor can then see your 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 the doctor to see the flow of blood throughout the heart and blood vessels.

How Are Congenital Heart Defects Treated?

Doctors treat congenital heart defects with:

• Medicines
• 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 medicines and are monitored by their doctor. Other children may need surgery.

Medicines

Your child may take one or more of the following medicines 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 defects during cardiac catheterisation. 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 a blood vessel 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 arteriosus can be closed, and narrow valves and blood vessels can be opened up. Cardiac catheterisation:

• 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 can't be repaired using a catheter-based procedure. Some surgeries repair the defect completely. Other surgeries improve the child's health but do not completely repair the defect. Open-heart surgery may be done to:

• Close holes with stitches or with a patch
• Repair valves
• Widen arteries or openings to valves
• Put the great vessels (aorta and pulmonary artery) in their correct positions

Sometimes, open-heart surgery can improve a child's health but 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 oxygen-poor blood directly to the pulmonary artery in a three-stage surgery when the right ventricle is not developed (for example, hypoplastic left heart syndrome)

Heart Transplants

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 Can Congenital Heart Defects Be Prevented?

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

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

• Over-the-counter medicines
• Prescription medicines
• 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, and there is some evidence that it may also help prevent certain types of congenital heart defects.

You should avoid:

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

If you or anyone in your family has a congenital heart defect, genetic testing may be available. It can show if there is a genetic cause for a congenital heart defect. Testing cannot prevent a congenital heart defect but it may be able to make you aware of the risks.

Living With a Congenital Heart Defect

With new advances in testing and treatment, most children with congenital heart defects 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 catheterisations and surgeries. Others may need pacemakers to help their hearts beat properly.

Parents

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

Most children with congenital heart defects grow up to a healthy adulthood. Only children with complex heart defects may continue to need special medical attention into adulthood.

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

It is important to keep your health insurance current. If you change jobs, make sure that the new health insurance will cover your child who has a congenital heart defect. Some health insurance plans may not cover some medical conditions that you or your covered family member 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 to your child 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 them may have to quit and stay home with the child if suitable day care can't be found. The drain on energy, emotions, and finances can be very stressful. Ask your child's doctor about support groups and other types of support in your area. Seek counselling if the stress is 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 paediatrician or family doctor for routine exams
• Taking medicines 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 defect.

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

Children With Congenital Heart Defects

Some children with congenital heart defects do not grow and develop as fast as other children who are the same age. Your child may be smaller and thinner than other children. Your child may also start activities such as 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 he or she should rest or take frequent breaks during activities, if necessary. Some children with congenital heart defects may need to limit the amount or type of exercise they do. Talk to your doctor about what is safe exercise for your child.

Remember to ask your doctor for a note for school and other organisations 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 may feel isolated if they 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 a congenital heart defect.

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 Defects

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 defects 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 followup with the doctor.

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

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

Adults With Congenital Heart Defects

Today, most babies born with heart defects will live to be adults. Many of these adults believe that the surgery they had in childhood was a "cure" and may not realize that regular medical followup is needed to survive and maintain good health.

When thinking about changing jobs, adults with congenital heart defects should carefully consider the impact on their health insurance coverage. 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 coverage.

There are laws that protect people with congenital heart defects 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 Defects

Women with congenital heart defects who want to become pregnant (or who are pregnant) should:

• Talk to their doctor about health risks during pregnancy
• Talk to their doctor about medicines that can be taken during pregnancy
• Consult with specialists who take care of pregnant women with congenital heart defects

Key Points

• The term "congenital heart defect" describes a structural problem (or defect) in the heart that is 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 defects are the most common type of major birth defect. Each year, more than 30,000 babies in the United States are born with congenital heart defects.
• 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 of congenital heart defects. Heredity may play a role.
• The most common signs and symptoms of congenital heart defects 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)

• Doctors usually diagnose a congenital heart defect while the child is still very young. In some children, it is not diagnosed for a number of years. Sometimes congenital heart defects can be diagnosed before the baby is born.
• An echocardiogram is the test most often used to diagnose congenital heart defects. It helps diagnose heart failure and problems with how the heart is formed.
• Doctors treat congenital heart defects with:
  • Medicines
  • 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 defects grow into adulthood and live healthy, productive lives. Some continue to need specialized care to survive and to maintain a good quality of life.