A ventricular septal defect (VSD), also called a "hole in the heart," is a common heart defect that's present at birth.

A baby with a small ventricular septal defect may have no problems at all. A baby with a larger ventricular septal defect or associated heart defects may have a telltale bluish tint to the skin — due to oxygen-poor blood — often most visible in the lips and fingernails.

Fortunately, ventricular septal defect is readily treatable. Smaller ventricular septal defects often close on their own or don't cause problems. Others need surgical repair. Many kids with ventricular septal defects have normal, productive lives with few related problems.

Signs and symptoms of serious heart defects often appear during the first few days, weeks and months of your child's life.

Symptoms of a large ventricular septal defect may include:

• A bluish tint to the skin, lips and fingernails (cyanosis)
• Poor eating, failure to thrive
• Fast breathing or breathlessness
• Easy tiring
• Swelling of legs, feet or abdomen
• Rapid heart rate

Although these signs can be caused by other conditions, they may be due to a congenital heart defect.

You and your doctor may not notice signs of a ventricular septal defect at birth. If the defect is small, symptoms may not appear until later in childhood — if ever. Signs and symptoms vary depending on the size of the hole. Your doctor may first suspect a heart defect during a regular checkup while listening to your baby's heart through a stethoscope.

Click to Enlarge

Ventricular septal defect

Although doctors know that heart defects that are present at birth (congenital) arise from errors early in the heart's development, there's often no clear cause. Genetics and environmental factors probably play a role.

A ventricular septal defect occurs when the septum, the muscular wall separating the heart into left and right sides, fails to form fully between the lower chambers of the heart (ventricles) during fetal development. This leaves an opening that allows mixing of new (oxygenated) and used (deoxygenated) blood.

As a result, blood overfills the lungs and overworks the heart. If not treated, the blood pressure in the lungs goes up (pulmonary hypertension) and the ventricles enlarge and no longer work efficiently. Ultimately, this can lead to irreversible damage to the lung arteries and to congestive heart failure.

Congenital heart defects appear to run in families and sometimes occur with other genetic problems, such as Down syndrome. If you already have a child with a congenital heart defect, a genetic counselor can predict the approximate odds that your next child will have one.

Having the following conditions during pregnancy can increase your risk of having a baby with a heart defect.

• Rubella infection. Becoming infected with rubella (German measles) while pregnant can increase the risk of fetal heart defects. The rubella virus crosses the placenta and spreads through the fetus' circulatory system damaging blood vessels and organs, including the heart.
• Poorly controlled diabetes. Uncontrolled diabetes in the mother in turn affects the fetus' blood sugar, causing various damaging effects to the developing fetus.
• Drug or alcohol use or exposure to certain substances. Use of certain medications, alcohol or drugs or exposure to chemicals or radiation during pregnancy can harm the developing fetus.

Call your doctor if your baby or child:

• Tires easily when eating or playing
• Is not gaining weight
• Becomes breathless when eating or crying
• Has a bluish tint to his or her skin, especially around the fingernails and lips
• Breathes rapidly or is short of breath

Your baby's doctor may detect a heart defect by simply listening to your baby's heart. Ventricular septal defects often cause a heart murmur that your doctor can hear through a stethoscope. If your doctor hears a heart murmur or finds other signs or symptoms of a heart defect, he or she may request one or more of these tests:

• Chest X-ray. An X-ray image helps the doctor view your baby's heart and lungs. An X-ray may identify conditions other than a heart defect that may explain your baby's symptoms.
• Electrocardiogram (ECG). This test records the electrical activity of your baby's heart through electrodes attached to the skin. This test helps diagnose heart defects or rhythm problems.
• Echocardiogram. An echocardiogram uses sound waves to produce a video image of the heart. This image can help doctors see if your baby's heart is abnormal and determine if it is pumping properly. Echocardiography can also be done while the baby is still in the womb (fetal echocardiography).
• Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your baby's groin or arm and guided through the blood vessels into the heart. Through catheterization, doctors can diagnose congenital heart defects and test the strength of the baby's ventricles — the heart's pumping chambers — and the function of the heart valves. Doctors are studying this technique for the repair of heart defects.
• Pulse oximetry. This painless test measures how well oxygen is reaching your baby's tissues. It helps determine whether oxygenated blood is mixing with deoxygenated blood, which can help diagnose the type of heart defect present. A small finger clip on the baby's fingertip measures the amount of oxygen in the blood.

A small ventricular septal defect may never cause any problems. Larger defects can cause a wide range of disabilities — from mild to life-threatening. Treatment can prevent many of these complications.

Eisenmenger's syndrome
Ultimately, if a large ventricular septal defect goes untreated, increased blood flow to the lungs causes high blood pressure in the lung arteries (pulmonary hypertension). Over time, permanent damage to the lung arteries develops and the pulmonary hypertension can become irreversible.

This complication, called Eisenmenger's syndrome, may occur in early childhood, or it can develop progressively over many years. In people with Eisenmenger's syndrome, the majority of the blood flow through the ventricular septal defect goes from the right ventricle to the left and bypasses the lungs. This means deoxygenated blood is pumped to the body and leads to a bluish discoloration of the lips, fingers and toes (cyanosis) and other complications. Once a child has Eisenmenger's syndrome, it's too late to surgically repair the hole because irreversible damage to the lung arteries has already occurred.

Other complications
Other complications may include:

• Heart failure. The increased blood flow through the heart due to a ventricular septal defect can also lead to heart failure, a chronic condition in which the heart can't pump effectively.
• Endocarditis. Children with a ventricular septal defect are at increased risk of an infection of the heart (endocarditis).
• Stroke. Children with large defects, especially occurring with Eisenmenger's syndrome, are at risk of a stroke due to a blood clot passing through the hole in the heart and going to the brain.
• Other heart problems. Ventricular septal defects can also lead to abnormal heart rhythms and valve problems.

Ventricular septal defect and pregnancy
Becoming pregnant is often a concern for women born with a heart defect. Having a repaired ventricular septal defect without any complications or having a very small defect doesn't pose any additional risk in pregnancy. However, having an unrepaired larger defect, heart failure, cyanosis or other heart defects poses a high risk to both mother and fetus. Women with Eisenmenger's syndrome are at the highest risk of complications. Doctors strongly advise these women not to become pregnant.

Women born with a heart defect may also be concerned about the risk that the baby will be born with a heart defect as well. A woman with congenital heart disease increases the risk of congenital heart disease in her fetus from 1 percent to between 2 percent and 20 percent, according to the American Heart Association.

Doctors recommend that any woman with a congenital heart defect, repaired or not, who is considering pregnancy carefully discuss it beforehand with her cardiologist. This is especially important if you're taking medications. It's also important to see both an obstetrician and a cardiologist during pregnancy.

Many babies born with ventricular septal defect won't ever need to have the defect surgically closed. After birth, your doctor may want to observe your baby and treat any symptoms while waiting to see if the defect will close on its own. Depending on the size of the defect, doctors may try to delay surgery until your child is older.

Medications
Medications for ventricular septal defect may include those to:

• Keep the heartbeat regular. Examples include beta blockers (Lopressor, Inderal) and digoxin (Lanoxin).
• Increase the strength of the heart's contractions. Examples include digoxin (Lanoxin).
• Decrease the amount of fluid in circulation. Doing so reduces the volume of blood that must be pumped. These medications, called diuretics, include furosemide (Lasix).

Surgery
Surgery for a ventricular septal defect involves plugging or patching the abnormal opening between the ventricles. This usually involves open-heart surgery, which is done under general anesthesia. The surgery requires a heart-lung machine and an incision in the chest. The doctor uses patches or stitches to close the hole.

Another method — cardiac catheterization — also is being used to close some ventricular septal defects. Patching during catheterization, which is in the investigational stage, doesn't require opening the chest. Rather, the doctor inserts a thin tube (catheter) into a blood vessel in the groin and guides it to the baby's heart. For a ventricular septal defect, the doctor may be able to close the hole by using a small mesh patch or plug during catheterization. The heart tissue grows around the mesh, forming a permanent seal.

Even after repair, your child will need some medical follow-up to ensure that the ventricular septal defect remains closed. Depending on the size of the ventricular septal defect and the presence or absence of any other problems, your doctor will tell you how frequently your child will need to be seen.

Preventive antibiotics
In the past, it was recommended that all people with a ventricular septal defect take antibiotics before dental work and certain types of surgical procedures.

But guidelines issued by the American Heart Association in 2007 have substantially revised this recommendation. After weighing the risks and benefits of preventive antibiotics, the reviewing committee found that the risks outweighed the benefits for most people, except a small group of people at high risk of serious complications of infective endocarditis.

The reviewers found that random germs caused infective endocarditis more frequently than did routine dental or medical procedures. They suggest a more effective strategy for preventing endocarditis may be to practice good oral hygiene and get regular dental checkups. They also noted that taking preventive antibiotics carries certain uncommon though possible risks, such as an allergic reaction, and may contribute to growing antibiotic resistance.

Because of these changes, preventive antibiotics are no longer recommended for many people with ventricular septal defects. However, some people still need antibiotics, such as those who:

• Have other heart conditions or artificial valves
• Have a large ventricular septal defect that's causing a low blood oxygen level
• Have had repair with prosthetic material

If you've been told you or your child needs to take antibiotics before any procedures in the past, talk with your doctor about how these new recommendations apply to you.

In most cases, you can't do anything to prevent having a baby with a ventricular septal defect. However, it's important to do everything possible to have a healthy pregnancy. Here are the basics:

• Get early prenatal care, even before you're pregnant. Quitting smoking, reducing stress, stopping birth control - these are all things to talk to your doctor about before you get pregnant. Also, be sure you talk to your doctor about any medications you're taking.
• Eat a balanced diet. Include a vitamin supplement that contains folic acid. Also, limit caffeine.
• Exercise regularly. Work with your doctor to develop an exercise plan that's right for you.
• Avoid risks. These include harmful substances such as alcohol, cigarettes and illicit drugs. Also, avoid X-rays, hot tubs and saunas.
• Avoid infections. Be sure you're up-to-date on all of your vaccinations before becoming pregnant. Certain types of infections can be harmful to a developing fetus.
• Keep diabetes under control. If you have diabetes, work with your doctor to be sure it's well controlled before getting pregnant.

If you have a family history of heart defects or other genetic disorders, consider talking with a genetic counselor before getting pregnant.

If your child has a congenital heart defect, or has had surgery to correct one, you may have some concerns about whether he or she can safely play, go to school and fit in with other kids. You might also wonder about your child's future as an adult. Here are some of the issues you and your child may face:

• Preventing infection. A child who has congenital heart disease may need to take preventive antibiotics before certain dental and surgical procedures. Your doctor will help you learn if this is necessary. Maintaining good oral hygiene and getting regular dental checkups can help prevent infection.
• Exercise and play. Children with small defects or a repaired hole in the heart will usually have few or no restrictions on activity or exercise. For children whose hearts have reduced pumping ability, more limits are set. A child with irreversible pulmonary hypertension (Eisenmenger's syndrome) has the greatest number of restrictions. Your child's heart doctor (pediatric cardiologist) can help you learn what is safe for your child.

Parents of children with congenital heart defects often worry about the risks of rough play and vigorous activity even after successful treatment.

Although some children may need to limit the amount or type of exercise, many can lead normal or near-normal lives. Your doctor can advise you about which activities are safe for your child. If some activities pose special dangers, encourage your child in other pursuits instead of focusing on what he or she can't do. Although every circumstance is different, remember that many children with ventricular septal defects grow up to lead healthy, productive lives.

It may also be helpful to join a support group for families of children born with heart defects. Support groups can offer practical advice and useful resources to help parents, families and caregivers find answers, connect with other families, and share their hopes and concerns with others facing similar challenges.