Congenital Heart Defects

Table of Contents

Congenital heart defects are health conditions associated with the heart’s structure. This defect is present at birth. Congenital heart defects are the most common type of birth defects. These defects may involve the heart wall, heart valves, arteries, and veins near the heart. This defect can interfere with the normal blood flow through the heart. Blood flow may slow down, go in the wrong direction or in the wrong place, or be completely obstructed.

There are many types of congenital heart defects – from simple defects without symptoms to complex defects with severe and life-threatening symptoms.

Congenital heart defects are the most common type of birth defects. About 8 out of every 100 newborns are affected by this type of birth defect. 

Doctors will conduct a physical test and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include: 

  • Rapid breathing
  • Cyanosis – bluish skin, lips and fingernails
  • Fatigue
  • Poor blood circulation

Many congenital heart defects can cause few or no signs and symptoms at all. Usually, the defects are not diagnosed until the children are older.

Many children with congenital heart defects do not require treatment. However, some still do. Treatment may include medications, catheterization procedures, surgery, and heart transplants. Treatment depends on the type of defect, the defect severity, and the child’s age, height, and general health.

The diagnosis and treatment of complex heart defects has greatly improved over the past few decades. As a result, nearly all children who have complex heart defects manage to survive into adulthood and live active and productive lives.

Types of Congenital Heart Defects

Congenital heart defects are when some parts of the heart do not form properly before birth. This changes the normal flow of blood through the heart.

There are many types of congenital heart defects. An example of simple congenital heart defect is a hole in the septum. The hole allows blood from both sides of the heart to mix. Another example of a simple defect is a narrowed valve that blocks blood flow to the lungs or other body parts.

Other heart defects are more complex – including a combination of simple defects, problems with where the blood vessels are located, and more serious problems with how the heart develops.

Examples of Simple Congenital Heart Defects

Hole in the Heart (Septal Defect)

The septum is the wall that separates the spaces on the left and right sides of the heart. The walls prevent blood from mixing between the two sides of the heart. Some babies are born with a hole in the septum. This hole allows blood to mix from both sides of the heart.

  1. Atrial septal defect (ASD)

ASD is a hole in the part of the septum that separates the atria – the upper chambers of the heart. The hole allows oxygen-rich blood from the left atrium to flow into the right atrium, instead of flowing into the left ventricle as it is supposed to. Many children with ASD only have few symptoms.

ASD can be small, medium, or large. A small ASD allows only a small amount of blood to leak from one atrium to the other. It does not affect how the heart works and does not require special treatment. Many small ASDs close on their own when the heart grows during childhood.

Medium and large ASD allow more blood to leak from one atrium to another. These types of ASD tend not to close itself.

About half of all ASDs resolve on their own over time. Medium and large ASD that require treatment may use catheterization procedures or open heart surgery.

2. Ventricular septal defect (VSD)

The VSD is an opening in the part of the septum that separates the ventricles — the lower chambers of the heart. This hole allows oxygen-rich blood to flow from the left ventricle to the right ventricle, instead of flowing into the aorta and out into the body as it should. VSDs can be small, medium, or large. Small VSDs do not cause problems and can close on their own. Medium VSDs tend not to close on their own and may require treatment.

Large VSD allows a large amount of blood to flow from the left ventricle to the right ventricle. As a result, the left side of the heart has to work harder than usual. The extra blood flow increases the blood pressure on the right side of the heart and lungs.

The extra workload of the heart can lead to heart failure and poor growth. If the hole is not closed, high blood pressure can scar the arteries in the lungs.

Doctors use open heart surgery to treat VSDs.

Patent Ductus Arteriosus

Patent ductus arteriosus (PDA) is a relatively common heart defect that occurs shortly after birth. In PDA, abnormal blood flow occurs between the aorta and pulmonary artery.

Before birth, these arteries are connected by blood vessels called the ductus arteriosus. These blood vessels are an important part of fetal blood circulation. Within minutes or up to several days after birth, the ductus arteriosus closes. However, in some infants, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can put pressure on the heart and increase blood pressure in the pulmonary arteries.

A heart murmur (an extra or unusual sound heard during a heartbeat) may be the only sign of PDA. Other signs and symptoms can include shortness of breath, poor nutrition and growth, fatigue, and excessive sweating.

PDA is treated with medications, catheter-based procedures, and surgery. Small PDAs often resolved without treatment.

Narrowed Valve

Simple congenital heart defects can also involve heart valves. This valve controls blood flow from the atria to the ventricles and from the ventricles to the two large arteries connected to the heart (aorta and pulmonary artery).

Valves may have the following types of defects:

  • Stenosis. This defect occurs when the valve caps become thickened, hardened, or joined. As a result, the valve cannot open completely. Thus, the heart has to work harder to pump blood through the valve.
  • Atresia. This defect occurs when the valve neither forms properly nor has a hole for blood to pass through. Valvular atresia generally results in more complex congenital heart disease.
  • Regurgitation. This defect occurs if the valve does not close tightly. As a result, blood leaks back through the valve.

The most common valve defect is pulmonary valve stenosis – which is a narrowing of the pulmonary valve. This valve allows blood to flow from the right ventricle to the pulmonary artery. The blood then travels to the lungs to pick up oxygen.

Pulmonary valve stenosis can vary from mild to severe. Most children who have this defect have no signs or symptoms other than a heart murmur. Mild stenosis does not require treatment.

In infants with severe pulmonary valve stenosis, the right ventricle may be overworked to pump blood into the pulmonary arteries. The baby may have signs and symptoms such as rapid or heavy breathing, fatigue (tiredness), and poor eating habits. Older children who have severe pulmonary valve stenosis may have symptoms such as fatigue.

Some babies may have pulmonary valve stenosis and PDA or ASD. When this happens, oxygen-poor blood can flow from the right side of the heart to the left side. This can lead to cyanosis. Cyanosis is a bluish discoloration on your skin, lips and fingernails. This occurs due to lack of oxygen in the blood leaving the heart.

Severe pulmonary valve stenosis can be treated with catheterization procedures.

Examples of Complex Congenital Heart Disease

Complex congenital heart defects need to be treated surgically. Due to advances in medicine, doctors are now able to successfully repair even very complex congenital heart defects.

The most common complex heart defect is tetralogy of Fallot — which is a combination of four defects:

  • Pulmonary valve stenosis.
  • Large VSD.
  • Overriding aorta. In this defect, the aorta is located between the left and right ventricles, directly above the VSD. 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 defect, the right ventricular muscle is thicker than normal as it has to work harder than it should.

In Fallot’s tetralogy, insufficient blood reaches the lungs for oxygen, and oxygen-poor blood flows to the body.

Infants and children with tetralogy of Fallot have episodes of cyanosis – which may be severe. In the past, when this condition was not treated in infancy, children would get very tired during exercise and could faint. Now, infants with tetralogy of Fallot can be treated to prevent such symptoms. 

Tetralogy of Fallot should be repaired with open-heart surgery – either soon after birth or later in infancy. The timing of the surgery will depend on how narrow the pulmonary arteries are.

Children who have developed heart defects require lifelong medical care from a specialist doctor to ensure their overall health are maintained well.

Causes and Risk Factors of Congenital Heart Defects

Causes

Congenital heart defects occur because the heart does not develop normally during fetal development. In many cases, the cause of congenital heart defects is unidentified. However, researchers believe that genetics might be a factor.

Genetics

It is common for congenital heart defects to occur due to changes in a child’s DNA. DNA changes may or may not come from the parents.

Rarely, congenital heart defects are caused by certain genes inherited from parents. This means that parents who have congenital heart defects increase the risk of having a child with the defect.

Risk Factors

Congenital heart defects are the most common type of birth defect. If your child has a congenital heart defect, you might think you did something wrong during pregnancy that could have caused the problem.

However, in many cases, doctors cannot identify why congenital heart defects occur. Researchers believe that the risk of having a baby with congenital heart defects may be influenced by family history and genetics, pregnancy health, gender, and exposure to environmental factors, such as smoke or certain drugs, during preganncy. Other medical conditions can also increase your risk of having a baby with congenital heart defects.

Family history and genetics

Congenital heart disease is not usually passed on to your children, but there are a number of risks. The risk increases if your partner or your other child has a congenital heart defect.

Environmental factor

Exposure to certain substances during pregnancy can increase the risk of having a baby with congenital heart defects.

  • Smoking during pregnancy or exposure to secondhand smoke.
  • Consuming certain medications – such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acid for acne treatment – in the first trimester

Other medical conditions

These medical conditions increase the risk of having a baby with congenital heart defects:

  • Diabetes. You run a higher risk if you had diabetes before pregnancy, or if you were diagnosed with diabetes while you were in your first trimester. However, a diagnosis of gestational diabetes, which occurs later in pregnancy, is not a major risk factor.
  • Phenylketonuria. This rare inherited disorder affects how the body processes a protein called phenylalanine, which can be found in many foods. Controlling phenylketonuria before pregnancy can help lower your risk of having a baby with congenital heart defects.
  • Rubella. Rubella virus infection, also known as German measles, during pregnancy also increases the risk of having a baby with the defect. 

Gender

Congenital heart defects can occur in both sexes. Congenital heart defects are slightly more common to occur in boys than girls. Some congenital heart defects are characteristic of conditions such as Turner’s syndrome, which affects women more often. 

Signs and Symptoms of Congenital Heart Defects

Many congenital heart defects cause few or no signs and symptoms at all. A doctor may not even detect signs of a heart defect during a physical exam.

That said, certain heart defects cause signs and symptoms, depending on the type and severity of defects. Severe defects can cause signs and symptoms, usually in newborns. These signs and symptoms may include:

  • Rapid breathing
  • Cyanosis (bluish discoloration of the skin, lips and fingernails)
  • Fatigue 
  • Poor blood circulation

Congenital heart defects do not cause chest pain or other painful symptoms.

Heart defects can cause heart murmurs (extra or unusual sounds heard during a heartbeat). The doctor can hear heart murmurs using a stethoscope. However, not all murmurs are a sign of a congenital heart defect. Many healthy children have heart murmurs.

Normal growth and development depends on the normal workload of the heart and flow of oxygen-rich blood to all parts of the body. Babies who have congenital heart defects may develop cyanosis and tire easily during feeding. As a result, they may not gain weight or grow as they should.

Older children with congenital heart defects may tire easily or have shortness of breath when performing physical activity.

Many types of congenital heart defects cause the heart to work harder than it should. With severe defects, this can lead to heart failure. Heart failure is a condition in which the heart cannot pump enough blood to meet the body’s needs. Heart failure symptoms include

  • Shortness of breath or difficulty breathing
  • Fatigue during physical activity
  • Buildup of blood and fluid in the lungs
  • Swelling of the ankles, feet, legs, abdomen, and veins in the neck

Diagnosis of Congenital Heart Defects

Severe congenital heart defects are often diagnosed during pregnancy or soon after birth. Less severe defects are usually not diagnosed until the children are older.

Minor defects often have no signs or symptoms. The doctor may diagnose the defect based on the results of a physical test and tests performed for other conditions. 

Specialists Doctors Involved

A pediatric cardiologist is a doctor who specializes in treating babies and children who have heart problems. Cardiac surgeons are specialists who repair heart defects through surgical procedures.

Physical test

During the physical test, the doctor will:

  • Listen to your child’s heart and lungs using a stethoscope
  • Look for signs of heart defects, such as cyanosis (a bluish tinge to the skin, lips, or fingernails), shortness of breath, rapid breathing, delayed growth, or signs of heart failure.

Diagnostic Tests

Echocardiography

Echocardiography (echo) is a painless test that uses sound waves to create a moving image of the heart. During the test, sound waves (called an ultrasound) bounce off the structures of the heart. The computer converts sound waves into an image on the screen.

Echo allows the doctor to clearly see any problems with how the heart forms or how it works. Echo is an important test for diagnosing heart problems and other potential problems over time. This test can show problems with the heart’s structure and the heart’s reaction to these problems. Echo will help the paediatric cardiologist decide whether or not treatment is required. 

During pregnancy, if the doctor suspects that your baby has a congenital heart defect, fetal echo may be performed. This test uses sound waves to create an image of the baby’s heart during the fetal development.

Fetal echo is usually done at 18 to 22 weeks of pregnancy. If your child is diagnosed with a congenital heart defect before birth, the doctor can plan treatment before the baby is born.

ECG (Electrocardiogram)

An ECG is a simple, painless test that records the electrical activity of the heart. The test shows how fast the heart is beating and its rhythm (regular or irregular). The ECG also records the strength and timing of electrical signals as they pass through the heart.

An ECG can detect if any of the chambers of the heart are enlarged – which can help diagnose heart problems.

Chest X-ray

A chest X-ray is a painless test that creates images of structures in the chest, such as the heart and lungs. This test can show if the heart is enlarged. It can also show whether the lungs have extra blood flow or extra fluid – which can be a sign of heart failure.

Pulse Oximeter

In this test, a small sensor is attached to the finger or toe (like an adhesive bandage). The sensor provides an estimate of how much oxygen is in the blood.

Cardiac Catheterization

In cardiac catheterization, a thin, flexible tube called a catheter is inserted into a blood vessel in the arm, groin (upper thigh), or neck. The tube is passed to the heart.

A special dye is injected through a catheter into a vein or one of the chambers of the heart. The dye allows the doctor to see blood flowing through the heart and blood vessels on x-ray images.

Doctors may also use cardiac catheterization to measure the pressure and oxygen levels in the chambers of the heart and blood vessels. This can help the doctor determine if blood is mixed from both sides of the heart.

Cardiac catheterization is also used to repair certain heart defects.

Treatment for Congenital Heart Defects

Although many children have congenital heart defects that do not require treatment, some children still do. Doctors may repair congenital heart defects through catheterization or surgical procedures.

In some cases, doctors combine catheters and surgical procedures to repair complex heart defects, which may involve several types of defects.

The treatment that your child receives depends on the type and severity of the heart defect. Other factors include your child’s age, size and general health.

Some children who have complex congenital heart defects may require several catheterization or surgical procedures for several years, or they may be asked to take medication regularly for years.

Catheterization Procedure

Catheterization procedures are easier compared to surgery. This procedure only involves a needle pricking the skin where a catheter (a thin, flexible tube) is inserted into a blood vessel or artery.

The doctor does not have to surgically open the chest or operate directly on the heart to repair the defect. This may help speed up the recovery. 

The use of catheterization procedures has increased a lot in the last 20 years. This procedure has become the preferred way of repairing many simple heart defects, such as atrial septal defect (ASD) and pulmonary valve stenosis. In repairing ASD, the doctor inserts a catheter into a vein in the groin (upper thigh), followed by inserting a tube into the heart septum. A device consisting of two small discs or an umbrella-like device is attached to the catheter. When the catheter reaches the septum, the device is pushed out of the catheter. This device is attached to block the holes between the atria. It is put in place and the catheter is pulled from the body.

Within 6 months, normal tissue develops on top of the device. The cover does not need to be replaced when the child grows.

For pulmonary valve stenosis, the doctor inserts a catheter into a vein and inserts it into the pulmonary valve of the heart. The tiny balloon at the end of the catheter quickly inflates to separate the tiny blades, or valve “doors”. Then, the balloon is deflated and the catheter and balloon are withdrawn. This procedure can be used to repair narrowed valves in the heart.

To help guide the catheter, doctors often use echocardiography (echo), transesophageal echo (TEE), and coronary angiography.

TEE is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the tube from the mouth to the stomach. Doctors also use TEE to check for complex heart defects.

Surgery

A child may require open heart surgery if the heart defect cannot be repaired using a catheterization procedure. In some cases, one surgery can repair a defect completely. If that is not possible, your child may require more surgeries to treat the problem.

Heart surgeons may use open heart surgery to:

  • Close the hole in the heart with stitches or patches
  • Repair or replace heart valves
  • Widen arteries or openings to heart valves
  • Repair complex defects, such as problems with the location of blood vessels near the heart or how the defects form

Rarely, babies are born with several defects that are too complex to repair. In this case, a heart transplant may be required. In this procedure, the child’s heart is replaced with a healthy heart of a recently deceased child. The healthy heart is given from donors.

Home Care For Patients Diagnosed with Congenital Heart Defects

Treating congenital heart defects in children has a higher success rate compared to the past. Advances in testing and treatment allow most children with the condition to survive into adulthood. They can lead active and productive lives. 

Many of these children only require periodic check-ups with a cardiologist (heart specialist) as they grow older and become adults.

Children who have complex heart defects require long-term medical care from specialist doctors. This will help them stay as healthy as possible and maintain a good quality of life.

Children and Youth

Continuous Care

Continuous care is important for your child’s health. This includes:

  • Scheduled checkups with a pediatric heart specialist as directed
  • Routine check-ups with the pediatrician or family doctor
  • Take medication as prescribed

Children who have severe heart defects may have a slightly increased risk of infective endocarditis (IE). IE is a serious infection of the inner lining of the heart chambers and valves.

The doctor or dentist may give your child antibiotics prior to medical or dental procedures (such as surgery or dental cleaning) that can allow bacteria to enter the bloodstream. The doctor will tell you whether your child needs antibiotics before the procedure.

To lower the risk of IE, gently brush your child’s teeth daily. When they get older, make sure they brush their teeth every day and visit the dentist regularly. Talk to your doctor and dentist on how to maintain your child’s oral health.

As children with heart defects grow and become teenagers, they must realize they have a different heart condition. They should also identify the type of defect they have, ways to treat it, and the required treatment. They need to be able to recognize signs and symptoms and know how to respond.

Work with your child’s healthcare provider to put together a package of medical records and information that covers all aspects of your child’s heart defect, including:

  • Diagnosis
  • Procedure or surgery
  • Medication prescriptions
  • Recommendations on medical checkup and how to prevent complications
  • Health Insurance

Review your current health insurance plans to fully understand what is covered and what is not. It is also important to update your health insurance. If you are planning to change jobs, find out if your new health insurance will cover treatment for your child’s congenital heart defects.

Food and Nutrition

Some children with congenital heart defects do not grow and develop as fast as other children. If your child’s heart is pumping harder than usual due to a heart defect, he or she may tire quickly while eating. This could lead to poor eating habits.

Poor eating habits might make your child smaller and thinner than other children. Your child may also start certain activities – such as rolling over, sitting, and walking – later on compared to other children. After treatment and surgery, growth and development may improve.

To help your child get sufficient calorie intake, ask the doctor regarding the best feeding schedule. You should also ask whether your baby requires nutritional supplements. Make sure your child gets nutritious meals as they grow up. This will help with growth and development.

Physical Activity

Physical activity helps children strengthen their muscles and stay healthy. Ask the doctor what type of physical activity is best for your child. Certain children and adolescents who have congenital heart defects may need to limit some activities.

Do not forget to ask the doctor for a certificate that explains your child’s physical activity limits. Schools and other groups may require this information.

Emotional Problems

Children and adolescents who have serious conditions or illnesses may have emotional problems. For example, they may feel isolated if they have to go to the hospital frequently.

Some children may feel sad or frustrated with their body image and their inability to be “normal” children. Your child’s siblings might get jealous since their brother or sister gets more attention from you due to their health condition. 

If you have concerns about your child’s emotional state, talk to their doctor.

Transitions of Care

The important transition from child care moving to adult care can be challenging. Consult the youth healthcare provider to create a plan that can help the care transition. Start planning as soon as your child is able and willing to fully take part in this process.

A care transition plan has many benefits. This will help your child: 

  • Be accustomed to interacting with healthcare providers
  • Learn more about the adult healthcare system
  • Understand the importance of having health insurance and learn what insurance covers
  • Learn and take responsibility for their own medical care

A transition care plan can also help your child think about other important issues, such as future education and employment, birth control and pregnancy planning, and make healthy choices about nutrition, physical activity, and other lifestyle habits.

Adults

Adults who still have to get routine medical check-ups for congenital heart defects in their youth may need to continue seeing a specialist doctor into adulthood. Adults should pay attention to the following problems.

Medical History

Some people think that the surgery they had as a child for their congenital heart defects has gotten them fully recovered. They do not realize that they still require regular medical checkups to maintain their overall health.

Some adults may not know what type of heart defect they had (or are currently experiencing) or how it was repaired. They should learn about their medical history and know as much as possible about the medications.

Preventing Infective Endocarditis

People who have congenital heart defects may require antibiotics prior to some medical or dental procedures that can allow bacteria to enter the bloodstream. These bacteria can cause infective endocarditis (IE). IE is a serious infection of the inner lining of the heart chambers and valves.

Your doctor will tell you whether you need to take antibiotics before any medical or dental procedures. Regular brushing, flossing, and visits to the dentist can also help prevent IE.

Birth Control and Pregnancy

Women who have heart defects should talk to their doctors about the types of birth control that are safe for them. Many women with the condition can safely use most methods. However, some women should avoid certain types of birth control, such as birth control pills or an intrauterine device (IUD).

Many women with simple heart defects go through normal pregnancies and deliveries. Women with congenital heart defects who desire to become pregnant (or who are pregnant) should consult their doctor about the health risks. They should also consult a doctor who specializes in treating pregnant women who have congenital heart defects.

Women who have congenital heart defects may be at a higher risk than other women of having babies with congenital heart defects.

Pregnant women who have congenital heart defects should talk to their doctor on whether they should undergo fetal echocardiography (echo). This test uses sound waves to create an image of the baby’s heart.

Fetal echo provides information to the doctor about the size and shape of the baby’s heart. This test also shows the function of the chambers and valves.

Health and Work Insurance

Adults with congenital heart defects should carefully consider how a job change will affect their health insurance coverage.

Some health insurance plans come with waiting periods for certain types of coverage. Before making any job changes, find out if the change will affect your insurance coverage.

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