A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of major birth defect.
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
Treatment for the defect can include medicines, surgery and other medical procedures and heart transplants. The treatment depends on the type and severity of the defect and a child's age, size and general health. Today, many children born with complex heart defects grow to adulthood and lead productive lives.
What Causes Congenital Heart Defects?
If you have a child who has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem. However, most of the time doctors don't know why congenital heart defects develop.
Heredity may play a role in some heart defects. For example, a parent who has a congenital heart defect may be more likely than other people to have a child with the condition. In rare cases, more than one child in a family is born with a heart defect.
Children who have genetic disorders, such as Down syndrome, often have congenital heart defects. In fact, half of all babies who have Down syndrome have congenital heart defects.
Smoking during pregnancy also has been linked to several congenital heart defects, including septal defects.
Common Heart Defects
Common types of congenital heart defects, which can affect any part of the heart or its surrounding structures, include:
Aortic Stenosis :-
In aortic stenosis, the aortic valve is stiffened and has a narrowed opening (a condition called stenosis). It does not open properly, which increases strain on the heart because the left ventricle has to pump harder to send blood out to the body. Sometimes the aortic valve also does not close properly, causing it to leak, a condition called aortic regurgitation.
Atrial Septal Defect (ASD) :-
ASD is a hole in the wall (called the septum) that separates the left atrium and the right atrium.
Atrioventricular Canal Defect :-
This defect — also known as endocardial cushion defect or atrioventricular septal defect — is caused by a poorly formed central area of the heart. Typically there is a large hole between the upper chambers of the heart (the atria) and, often, an additional hole between the lower chambers of the heart (the ventricles). Instead of two separate valves allowing flow into the heart (tricuspid on the right and mitral valve on the left), there is one large common valve, which may be quite malformed. Atrioventricular canal defect is commonly seen in children with Down syndrome.
Coarctation of the Aorta (COA) :-
COA is a narrowing of a portion of the aorta, and often seriously decreases the blood flow from the heart out to the lower portion of the body.
Hypoplastic Left Heart Syndrome :-
When the structures of the left side of the heart (the left ventricle, the mitral valve, and the aortic valve) are underdeveloped, they're unable to pump blood adequately to the entire body. This condition is usually diagnosed within the first few days of life, at which point the baby may be critically ill.
How Are Congenital Heart Defects Diagnosed?
Severe congenital heart defects are generally found during pregnancy or soon after birth. Less severe defects aren't diagnosed until children are older.
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.
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
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.
EKG (Electrocardiogram) :-
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.
Chest X Ray :-
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 :-
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.
Cardiac Catheterization :-
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.
Signs and Symptoms of Heart Defects
Because congenital defects often compromise the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as:
- A bluish tinge or color (cyanosis) to the lips, tongue and/or nailbeds
- An increased rate of breathing or difficulty breathing
- Poor appetite or difficulty feeding(which may be associated with color change)
- Failure to thrive (failure to gain weight or weight loss)
- Abnormal heart murmur
- Sweating, especially during feedings
- Diminished strength of the baby's pulse
If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist.
How Are Congenital Heart Defects Treated?
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.
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
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