Congenital Heart Diseases
Congenital (kon-JEN-i-tal) heart defects are problems with the heart’s structure that are present at birth. These defects can involve:
- The interior walls of the heart
- The valves inside the heart
- The arteries and veins that carry blood to the heart or out to the body
Congenital heart defects change the normal flow of blood through the heart.
There are many types of congenital heart defects. They range from simple defects with no symptoms to complex defects with severe, life-threatening symptoms.
Congenital heart defects are the most common type of birth defect. They affect 8 of every 1,000 newborns. Each year, more than 35,000 babies in the United States are born with congenital heart defects.
Many of these defects are simple conditions that are easily fixed or need no treatment. A small number of babies are born with complex congenital heart defects that require special medical care soon after birth.
Over the past few decades, the diagnosis and treatment of these complex defects has greatly improved. As a result, almost all children who have complex heart defects survive to adulthood and can live active, productive lives.
Most people who have complex heart defects continue to need special heart care throughout their lives. They may need to pay special attention to how their condition may affect certain issues, such as health insurance, employment, pregnancy and contraception, and other health issues.
In the United States, about 1 million adults are living with congenital heart defects.
Signs and Symptoms of Congenital Heart Diseases
Many congenital heart defects have few or no signs or symptoms. A doctor may not even detect signs of a heart defect during a physical exam.
Some heart defects do have signs and symptoms. They depend on the number, type, and severity of the defects. Severe defects can cause signs and symptoms, usually in newborns. These signs and symptoms may include:
- Rapid breathing
- Cyanosis (a bluish tint to the skin, lips, and fingernails)
- Fatigue (tiredness)
- Poor blood circulation
Congenital heart defects don’t cause chest pain or other painful symptoms.
Heart defects can cause abnormal blood flow through the heart that will make a certain sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs.
Normal growth and development depend on a normal workload for the heart and normal flow of oxygen-rich blood to all parts of the body. Babies who have congenital heart defects may have cyanosis and/or tire easily when feeding. As a result, they may not gain weight or grow as they should.
Older children who have congenital heart defects may get tired easily or short of breath during physical activity.
Many types of congenital heart defects cause the heart to work harder than it should. In severe defects, this can lead to heart failure. Heart failure is a condition in which the heart can’t pump enough blood to meet the body’s needs. Symptoms of heart failure include:
- Fatigue with physical activity
- Shortness of breath
- A buildup of blood and fluid in the lungs
- A buildup of fluid in the feet, ankles, and legs
Diagnosis of Congenital Heart Diseases
Severe congenital heart defects are generally found during pregnancy or soon after birth. Less severe defects aren’t diagnosed until children are older. Sometimes doctors and medical professionals can fail to inform parents of serious congenital abnormalities before birth, which means there may be legal action the parents can take to recover compensation for medical and other health care expenses – read more about wrongful birth.
Minor defects often have no signs or symptoms and are diagnosed based on results from a physical exam and tests done for another reason.
Doctors who specialize in the care of babies and children who have heart problems are called pediatric cardiologists. Cardiac surgeons are other specialists who treat heart defects. These doctors repair heart defects using surgery.
Physical Exam for Congenital Heart Diseases
During a physical exam, the doctor will:
- Listen to your child’s heart and lungs with a stethoscope
- Look for signs of a heart defect, such as cyanosis (a bluish tint to the skin, lips, or fingernails), shortness of breath, rapid breathing, delayed growth, or signs of heart failure
- Diagnostic Tests
Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. During the test, the sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen.
Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it’s working.
Echo is an important test for both diagnosing a heart problem and following the problem over time. In children who have congenital heart defects, echo can show problems with the heart’s structure and how the heart is reacting to these problems. Echo will help your child’s cardiologist decide if and when treatment is needed.
During pregnancy, if your doctor suspects that your baby has a congenital heart defect, a fetal echo can be done. This test uses sound waves to create a picture of the baby’s heart while the baby is still in the womb.
The fetal echo usually is done at about 18 to 22 weeks of pregnancy. If your child is diagnosed with a congenital heart defect before birth, your doctor can plan treatment before the baby is born.
An EKG is a simple, painless test that records the heart’s electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through each part of the heart.
An EKG can detect if one of the heart’s chambers is enlarged, which can help diagnose a heart problem.
A chest x-ray is a painless test that creates pictures of the structures in the chest, such as the heart and lungs. This test can show whether the heart is enlarged or whether the lungs have extra blood flow or extra fluid, a sign of heart failure.
Pulse oximetry shows how much oxygen is in the blood. For this test, a small sensor is attached to a finger or toe (like an adhesive bandage). The sensor gives an estimate of how much oxygen is in the blood.
During cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck and threaded to the heart.
A special dye is injected through the catheter into a blood vessel or a chamber of the heart. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image.
The doctor also can use cardiac catheterization to measure the pressure and oxygen level inside the heart chambers and blood vessels. This can help the doctor determine whether blood is mixing between the two sides of the heart.
Cardiac catheterization also is used to repair some heart defects.
Treatment for Congenital Heart Diseases
Although many children who have congenital heart defects don’t need treatment, some do. Doctors repair congenital heart defects with catheter procedures or surgery.
The treatment your child receives depends on the type and severity of his or her heart defect. Other factors include your child’s age, size, and general health.
Some children who have complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may need to take medicines for years.
Catheter procedures are much easier on patients than surgery because they involve only a needle puncture in the skin where the catheter (thin, flexible tube) is inserted into a vein or an artery.
Doctors don’t have to surgically open the chest or operate directly on the heart to repair the defect(s). This means that recovery may be easier and quicker.
The use of catheter procedures has grown a lot in the past 20 years. They have become the preferred way to repair many simple heart defects, such as atrial septal defect (ASD) and pulmonary valve stenosis.
For an ASD, the doctor inserts a catheter through a vein and threads it into the heart to the septum. The catheter has a tiny, umbrella-like device folded up inside it.
When the catheter reaches the septum, the device is pushed out of the catheter. It’s positioned so that it plugs the hole between the atria. The device is secured in place, and the catheter is then withdrawn from the body.
For pulmonary valve stenosis, the doctor inserts a catheter through a vein and threads it into the heart to the pulmonary valve. A tiny balloon at the end of the catheter is quickly inflated to push apart the leaflets or “doors” of the valve. The balloon is then deflated, and the catheter and balloon are withdrawn. This procedure can be used to repair any narrowed valve in the heart.
To help guide the catheter, doctors often use echocardiography (echo) or transesophageal (tranz-ih-sof-uh-JEE-ul) echocardiography (TEE) and angiography (an-jee-OG-ra-fee).
TEE is a special type of echo that takes pictures of the back of the heart through the esophagus (the passage leading from the mouth to the stomach). TEE also is often used to examine complex heart defects.
Doctors also sometimes combine catheter and surgical procedures to repair complex heart defects, which may involve several kinds of defects.
A child may need open-heart surgery if his or her heart defect can’t be fixed using a catheter procedure. Sometimes, one surgery can repair the defect completely. If that’s not possible, the child may need more surgeries over months or years to fix the problem.
Open-heart surgery may be done to:
- Close holes in the heart with stitches or with a patch
- Repair or replace heart valves
- Widen arteries or openings to heart valves
- Repair complex defects, such as problems with where the blood vessels near the heart are located or how they developed
Rarely, babies are born with multiple defects that are too complex to repair. These babies may need heart transplants. In this procedure, the child’s heart is replaced with a healthy heart from a deceased child that has been donated by that child’s family.