Ebstein's Anomaly is a rare defect, accounting for less than 1 percent of all congenital heart defects. The principal aberration occurring with Ebstein's Anomaly is a malformation of the tricuspid valve, which is located between the right atrium and right ventricle. Two of the three leaflets of the valve (the septal leaflet and the posterior leaflet) are displaced downward into the right ventricular cavity. These valve leaflets vary from mildly deformed to severely deformed. The third leaflet (the anterior leaflet) is not displaced but is typically large and redundant, often described as "sail-like". The portion of the right ventricle that sits above the displaced leaflets is usually thinner than normal and may be referred to as the atrialized portion of the right ventricle. A hole between the upper chambers of the heart, either an atrial septal defect or a patent foramen ovale, is virtually always present in association with Ebstein's anomaly. In some patients with this malformation, the pulmonary valve is also abnormal, either abnormally tight (pulmonary valve stenosis) or entirely closed (pulmonary valve atresia).
Most commonly, the deformed tricuspid valve has a tendency to leak, thus, as the right ventricle contracts some blood flows backwards from the right ventricle to the right atrium. Because of this backwards leakage of blood, a reduced volume of blood enters the right ventricle to be ejected to the lungs. The right atrium, which receives this leaking blood, is usually quite enlarged. Some of the blue blood from the right atrium may pass across the hole in the atrial septum into the left atrium. This blue blood then goes directly out to the body, which may be recognized as cyanosis in the patient. This is frequently present in newborns with Ebstein's anomaly and usually improves over the first weeks of life.
Infrequently, the deformed tricuspid valve forms an imperforate membrane. In this setting, rather than leaking, the tricuspid valve blocks blood from advancing into the right ventricle and out to the lungs.
In patients where the degree of valve deformity is mild and no symptoms are present, no intervention may be required other than prescribing antibiotics prior to dental or surgical procedures to prevent bacterial endocarditis. In patients with more severe involvement, cyanosis, shortness of breath, exercise intolerance and/or significant heart enlargement are often present and surgical intervention is warranted. The surgery usually consists of repairing or replacing the abnormal tricuspid valve and closing the hole between the atria.
What Is Normal Cardiac Anatomy?
When your child has a congenital heart defect, there's usually something wrong with the structure of his or her heart's structure.
Heart With Normal Cardiac Anatomy
When your child has a congenital heart defect, there's usually something wrong with the structure of his or her heart's structure.
The heart is composed of four chambers. The two upper chambers, known as atria, collect blood as it flows back to the heart. The two lower chambers, known as ventricles, pump blood with each heartbeat to the two main arteries (the pulmonary artery and the aorta). The septum is the wall that divides the heart into right and left sides. The atrial septum separates the right and left atria; likewise, the ventricular septum separates the two ventricles.
There are four valves that control the flow of blood through the heart. These flap-like structures allow blood to flow in only one direction. The tricuspid and mitral valves, also known as the atrioventricular valves, separate the upper and lower chambers of the heart. The aortic and pulmonary valves, also known as the arterial valves, separate the ventricles from the main arteries. Oxygen-depleted blood returns from the body and drains into the right atrium via the superior and inferior vena cavas. The blood in the right atrium then passes through the tricuspid valve and enters the right ventricle.
Next, the blood passes through the pulmonary valve, enters the pulmonary artery, and travels to the lungs where it is replenished with oxygen. The oxygen-rich blood returns to the heart via the pulmonary veins, draining into the left atrium. The blood in the left atrium passes through the bicuspid, or mitral, valve and enters the left ventricle.
Finally, the oxygen-rich blood flows through the aortic valve into the aorta and out to the rest of the body.
From Nemours' KidsHealth
- ECG (Electrocardiogram)
- Cardiac Catheterization
- A to Z: Tetralogy of Fallot
- When Your Child Needs a Heart Transplant
- If Your Child Has a Heart Defect
- Tetralogy of Fallot
- Patent Ductus Arteriosus (PDA)
- A to Z: Hypoplastic Left Heart Syndrome
- A to Z: Atrial Flutter
- A to Z: Patent Ductus Arteriosus (PDA)
- Coarctation of the Aorta
- Heart Murmurs and Your Child
- Ventricular Septal Defect
- Atrial Septal Defect
- Congenital Heart Defects
- Heart and Circulatory System
- Congenital Heart Defects Special Needs Factsheet
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Ventricular Septal Defect
A ventricular septal defect (VSD) — sometimes referred to as a hole in the heart — is a type of congenital heart defect. In a VSD, there is an abnormal opening in the dividing wall between the main pumping chambers of the heart (the ventricles).
VSDs are the most common congenital heart defect, and in most cases they're diagnosed and treated successfully with few or no complications.
What Is a Ventricular Septal Defect?
To understand this defect, it helps to know some basics about the way a healthy heart typically works.
The heart has four chambers: The two lower pumping chambers of the heart are called the ventricles, and the two upper filling chambers are the atria.
In a healthy heart, blood that returns from the body to the right-sided filling chamber (right atrium) is low in oxygen. This blood passes to the right-sided pumping chamber (right ventricle), and then travels to the lungs to receive oxygen. The blood that has been enriched with oxygen returns to the left atrium, and then to the left ventricle. It's then pumped out to the body through the aorta, a large blood vessel that carries the blood to the smaller blood vessels in the body.
The right-side and left-side pumping chambers (ventricles) are separated by shared wall, called the ventricular septum. Kids with a VSD have an opening in this wall. As a result:
- When the heart beats, some of the blood in the left ventricle (which has been enriched by oxygen from the lungs) flows through the hole in the septum into the right ventricle.
- In the right ventricle, this oxygen-rich blood mixes with the oxygen-poor blood and goes back to the lungs.
The blood flowing through the hole creates an extra noise, which is known as a heart murmur. The heart murmur can be heard when a doctor listens to the heart with a stethoscope.
VSDs can be in different places on the ventricular septum, and they can be different sizes. The symptoms and medical treatment of the VSD will depend on those factors. In some rare cases, VSDs are part of more complex types of congenital heart disease.
What Causes a VSD?
Ventricular septal defects happen during fetal heart development and are present at birth. During the first weeks after conception, the heart develops from a large tube, dividing into sections that will eventually become the walls and chambers. If there's a problem during this process, it can create a hole in the ventricular septum.
In some cases, the tendency to develop a VSD may be due to genetic syndromes that cause extra or missing pieces of chromosomes. The vast majority of these defects, though, have no clear cause.
Signs and Symptoms
VSDs are usually found in the first few weeks of life by a doctor during a routine checkup. The doctor will hear a heart murmur as blood passes between the left and right ventricles. A murmur from a VSD has certain features that let a doctor know that's it's not due to other causes.
Whether a VSD causes any symptoms depends on the size of the hole and its location. Small VSDs usually won't cause symptoms, and might close on their own. Older kids or teens who have small VSDs that don't close usually have no symptoms other than the heart murmur. They might need to see a doctor regularly to make sure the VSD isn't causing any problems.
Medium and large VSDs that haven't been treated in childhood may cause noticeable symptoms. Babies may have faster breathing and get tired out during attempts to feed. They may start sweating or crying with feeding, and may gain weight at a slower rate.
These signs generally indicate that the VSD will not close by itself, and cardiac surgery may be needed. This usually is done within the first 3 months of life to prevent other complications. A cardiologist can prescribe medicine to lessen symptoms before surgery.
People with a VSD are at greater risk for developing endocarditis, an infection of the inner surface of the heart caused by bacteria in the bloodstream. Bacteria are always in our mouths, and small amounts get into the bloodstream when we chew and brush our teeth.
The best way to protect the heart from endocarditis is to reduce oral bacteria by brushing and flossing daily, and visiting the dentist regularly. In general, it's not recommended that patients with simple VSDs take antibiotics before dental visits, except for the first 6 months after surgery.
Diagnosing a VSD
If your child has a heart murmur, your doctor may refer you to a pediatric cardiologist, a doctor who specializes in diagnosing and treating childhood heart conditions.
The cardiologist will do an exam and take your child's medical history. If a VSD is suspected, the cardiologist may order one or more of these tests:
- a chest X-ray, which produces a picture of the heart and surrounding organs
- an electrocardiogram (EKG), which records the electrical activity of the heart
- an echocardiogram (echo), which uses sound waves to produce a picture of the heart and to visualize blood flow through the heart chambers. This is often the primary tool used to diagnose a VSD.
- a cardiac catheterization, which provides information about the heart structures and blood pressure and blood oxygen levels in the heart chambers. This test usually is done for a VSD only when more information is needed than the other tests can give. (It's sometimes also used to close certain kinds of VSDs.)
Treating a VSD
Once a VSD is diagnosed, treatment depends on the child's age and the size, location, and severity of the defect. A child with a small defect that causes no symptoms may only need to visit a cardiologist regularly to make sure that there are no other problems.
In most kids, a small defect will close on its own without surgery. Some might not close, but won't get any larger. Kids with small VSDs generally do not need to restrict their activities.
Kids with medium to large VSDs likely will take prescription medicines to aid circulation and help the heart work more efficiently. Medicines alone, however, will not close the VSD, and in these cases, surgery may be necessary.
In most cases, surgery is done within the first few weeks to months of a child's life. The surgeon makes an incision in the chest wall and a heart-lung machine will maintain circulation while the surgeon closes the hole. The surgeon can stitch the hole closed directly or, more commonly, will sew a patch of manmade surgical material over it. Eventually, the tissue of the heart heals over the patch or stitches, and by 6 months after the surgery, the hole will be completely covered with tissue.
Certain types of VSDs may be closed by cardiac catheterization. A thin, flexible tube (a catheter) is inserted into a blood vessel in the leg that leads to the heart. A cardiologist guides the tube into the heart to make measurements of blood flow, pressure, and oxygen levels in the heart chambers. A special implant, shaped into two disks formed of flexible wire mesh, is positioned into the hole in the septum. The device is designed to flatten against the septum on both sides to close and permanently seal the VSD.
After healing from an operation to repair the defect, a child with a VSD should have no further symptoms or problems.
Caring for a Child With a VSD
Some kids with VSDs may take heart medication before surgery to help ease symptoms from the defect. Those who have surgery for larger VSDs usually leave the hospital within 4 to 5 days after surgery if there are no problems.
In most cases, kids who have VSD surgery recover quickly and without complications. But doctors will closely watch the child for signs or symptoms of any problems.
Your child may have another echocardiogram to make sure that the heart defect has closed completely. If your child is having trouble breathing, call your doctor or go to the emergency department immediately.
Other symptoms that may indicate a problem include:
- a bluish color (cyanosis) to the skin around the mouth or on the lips and tongue
- poor appetite or difficulty feeding
- failure to gain weight or weight loss
- listlessness or decreased activity level
- a long-lasting or unexplained fever
- increasing pain, tenderness, or pus oozing from the incision
Call your doctor if you notice any of these signs in your child after closure of the VSD.
Any time a child is diagnosed with a heart condition, it can be scary. But the good news is that your pediatric cardiologist will be very familiar with this condition and how to best manage it. Most kids who've had a VSD corrected go on to live healthy, active lives.
Reviewed by: Steven B. Ritz, MD
Date reviewed: December 08, 2016