Ventricular septal defect (VSD)

A ventricular septal defect (VSD), a hole in the heart, is a common heart defect that's present at birth (congenital). The hole (defect) occurs in the wall (septum) that separates the heart's lower chambers (ventricles) and allows blood to pass from the left to the right side of the heart. The oxygen-rich blood then gets pumped back to the lungs instead of out to the body, causing the heart to work harder.

A small ventricular septal defect may cause no problems, and many small VSDs close on their own. Medium or larger VSDs may need surgical repair early in life to prevent complications.

Symptoms

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

Ventricular septal defect (VSD) symptoms in a baby may include:

• Poor eating, failure to thrive
• Fast breathing or breathlessness
• Easy tiring

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 at all. Signs and symptoms vary depending on the size of the hole and other associated heart defects.

Your doctor may first suspect a heart defect during a regular checkup if he or she hears a murmur while listening to your baby's heart with a stethoscope. Sometimes a VSD can be detected by ultrasound before the baby is born.

Sometimes a VSD isn't detected until a person reaches adulthood. Symptoms and signs can include shortness of breath or a heart murmur your doctor hears when listening to your heart with a stethoscope.

When to see a doctor

Call your doctor if your baby or child:

• Tires easily when eating or playing
• Is not gaining weight
• Becomes breathless when eating or crying
• Breathes rapidly or is short of breath

Call your doctor if you develop:

• Shortness of breath when you exert yourself or when you lie down
• Rapid or irregular heartbeat
• Fatigue or weakness

Causes

Congenital heart defects arise from problems early in the heart's development, but there's often no clear cause. Genetics and environmental factors may play a role. VSDs can occur alone or with other congenital heart defects.

During fetal development, a ventricular septal defect occurs when the muscular wall separating the heart into left and right sides (septum) fails to form fully between the lower chambers of the heart (ventricles).

Normally, the right side of the heart pumps blood to the lungs to get oxygen; the left side pumps the oxygen-rich blood to the rest of the body. A VSD allows oxygenated blood to mix with deoxygenated blood, causing increased blood pressure and increased blood flow in the lung arteries. This results in increased work for the heart and lungs.

VSDs may be various sizes, and they can be present in several locations in the wall between the ventricles. There may be one or more VSD.

It's also possible to acquire a VSD later in life, usually after a heart attack or as a complication following certain heart procedures.

Risk factors

Ventricular septal defects may run in families and sometimes may occur with other genetic problems, such as Down syndrome. If you already have a child with a heart defect, a genetic counselor can discuss the risk of your next child having one.

Complications

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

Complications can include:

• Heart failure. In a heart with a medium or large VSD, the heart works harder and the lungs have too much blood pumped to them. Without treatment, heart failure can develop.
• Pulmonary hypertension. Increased blood flow to the lungs due to the VSD causes high blood pressure in the lung arteries (pulmonary hypertension), which can permanently damage them. This complication can cause reversal of blood flow through the hole (Eisenmenger syndrome).
• Endocarditis. This heart infection is an uncommon complication.
• Other heart problems. These include abnormal heart rhythms and valve problems.

Prevention

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. Talk to your doctor before you get pregnant about your health and discuss any lifestyle changes that your doctor may recommend for a healthy pregnancy. 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.
• 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, tobacco and illegal drugs.
• 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.

Diagnosis

Ventricular septal defects (VSDs) often cause a heart murmur that your doctor can hear using a stethoscope. If your doctor hears a heart murmur or finds other signs or symptoms of a heart defect, he or she may order several tests including:

• Echocardiogram. In this test, sound waves produce a video image of the heart. Doctors may use this test to diagnose a ventricular septal defect and determine its size, location and severity. It may also be used to see if there are any other heart problems. Echocardiography can be used on a fetus (fetal echocardiography).
• Electrocardiogram (ECG). This test records the electrical activity of the heart through electrodes attached to the skin and helps diagnose heart defects or rhythm problems.
• Chest X-ray. An X-ray image helps the doctor view the heart and lungs to see if the heart is enlarged and if the lungs have extra fluid.
• Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at the groin or arm and guided through the blood vessels into the heart. Through cardiac catheterization, doctors can diagnose congenital heart defects and determine the function of the heart valves and chambers
• Pulse oximetry. A small clip on the fingertip measures the amount of oxygen in the blood.

Treatment

Many babies born with a small ventricular septal defect (VSD) won't need surgery to close the hole. After birth, your doctor may want to observe your baby and treat symptoms while waiting to see if the defect closes on its own.

Babies who need surgical repair often have the procedure in their first year. Children and adults who have a medium or large ventricular septal defect or one that's causing significant symptoms may need surgery to close the defect.

Some smaller ventricular septal defects are closed surgically to prevent complications related to their locations, such as damage to heart valves. Many people with small VSDs have productive lives with few related problems.

Babies who have large VSDs or who tire easily during feeding may need extra nutrition to help them grow. Some babies may require medication to help treat heart failure.

Medications

Medications for ventricular septal defect depend on the severity of heart failure symptoms. The goal of medication is to decrease the amount of fluid in circulation and in the lungs. Medications called diuretics, such as furosemide (Lasix), reduce how much blood must be pumped.

Surgeries or other procedures

Surgical treatment for ventricular septal defect involves plugging or patching the abnormal opening between the ventricles. If you or your child is having surgery to repair a ventricular defect, consider having surgery performed by surgeons and cardiologists with training and expertise in conducting these procedures.

Procedures to treat VSD may include:

• Surgical repair. This procedure of choice in most cases usually involves open-heart surgery under general anesthesia. The surgery requires a heart-lung machine and an incision in the chest. The doctor uses a patch or stitches to close the hole.
• Catheter procedure. Closing a ventricular septal defect during catheterization 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 heart. The doctor then uses a specially sized mesh device to close the hole.

After repair, your doctor will schedule regular medical follow-up to ensure that the ventricular septal defect remains closed and to look for signs of complications. Depending on the size of the defect and the presence of other problems, your doctor will tell you how frequently you or your child will need to be seen.

Lifestyle and home remedies

After your ventricular septal defect (VSD) is repaired, you or your child will need follow-up care throughout life for doctors to monitor your condition and check for any signs of complications.

Your doctor may suggest that you or your child have regular follow-up appointments with a doctor who specializes in congenital heart disease. In follow-up appointments, your doctor may evaluate you or your child and order imaging tests to monitor your or your child's condition.

Here are a few tips for managing your or your child's condition:

• Consider pregnancy carefully. Before becoming pregnant, talk to a doctor trained in heart conditions (cardiologist) to determine if you can undergo pregnancy safely. This is especially important if you're taking medications. It's also important to see both an obstetrician and a cardiologist during pregnancy.

  Having a repaired VSD without complications or having a small defect doesn't pose a large additional pregnancy risk. However, having an unrepaired, larger defect; heart failure; pulmonary hypertension; abnormal heart rhythms; or other heart defects poses a high risk to both mother and fetus.

  Doctors strongly advise women with Eisenmenger syndrome not to become pregnant because of the high risk of complications.

• Prevent endocarditis. You or your child usually won't need to take antibiotics before certain dental procedures to prevent an infection of the heart's inner lining (endocarditis).

  However, your doctor may recommend antibiotics if you've had prior endocarditis, a heart valve replacement, if you have had a recent VSD repair with artificial material, if you still have leaks through the VSD, if the repaired VSD is next to a defect that's been repaired with artificial material, or if you have a large ventricular septal defect that's causing low oxygen levels.

  For most people with a ventricular septal defect, good oral hygiene and regular dental checkups can prevent endocarditis.

• Follow exercise recommendations. Your doctor can advise you about which activities are safe for you or your child. If some activities pose special dangers, encourage your child to engage in other, safer activities. Keep in mind that many children with VSDs can lead healthy, fully active, productive lives.

  Children with small defects or a repaired hole in the heart will usually have few or no restrictions on activity or exercise. Children whose hearts don't pump as normally will need to follow some limits. A child with irreversible pulmonary hypertension (Eisenmenger syndrome) has the greatest number of restrictions.

Coping and support

Consider joining a support group for families of children born with heart defects. Support groups can help parents, families and caregivers find answers, connect with other families, and share their hopes and concerns with others facing similar challenges.

Preparing for an appointment

If you or your child develops signs and symptoms common to ventricular septal defect, call your doctor. After an initial examination, it's likely that the doctor will refer you or your child to a doctor who specializes in the diagnosis and treatment of heart conditions (cardiologist).

Here's some information to help you prepare for your appointment.

What you can do

• Write down signs and symptoms you or your child has had and for how long.
• Write down key medical information, including other health problems and the names of any medications you or your child is taking, or procedures you or your child have had (including reports).
• Find a family member or friend who can come with you to the appointment, if possible. Someone who accompanies you can help remember what the doctor says.
• Write down the questions to ask your doctor.

Questions to ask the doctor at the initial appointment include:

• What is likely causing these symptoms?
• Are there other possible causes?
• What tests are needed?
• Should a specialist be consulted?

Questions to ask if you are referred to a cardiologist include:

• How large is the defect?
• What is the risk of complications from this condition?
• What treatment do you recommend?
• How often should we schedule follow-up exams and tests?
• What signs and symptoms should I watch for at home?
• What is the long-term outlook for this condition?
• Do you recommend dietary or activity restrictions?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor may ask a number of questions, including:

If you are the person affected:

• What are the symptoms?
• When did the symptoms begin?
• Have the symptoms gotten worse over time?
• Are you aware of heart problems in your family?
• Are you being treated, or have you recently been treated for other health conditions?
• Are you planning to become pregnant?

If your baby or child is affected:

• Does your child tire easily while eating or playing?
• Is your child gaining weight?
• Does your child breathe rapidly or run out of breath when eating or crying?
• Has your child been diagnosed with other medical conditions?

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