What is Ebstein’s Anomaly? 

Ebstein’s anomaly is a rare disease involving the right side of the heart. This disorder occurs when the tricuspid valve, that divides the two chambers of the right side of the heart, does not form correctly. Normally, the tricuspid valve separates the right atria and right ventricle. In Ebstein anomaly, the valve forms too far down in the ventricle. This makes the right ventricle smaller and weaker than normal. Often there is also a connection between the left and right atria. The tricuspid valve usually has three parts that move freely. In Ebstein anomaly, one or two parts of the valve get stuck to the walls of the heart and don’t move correctly, so blood can leak back in the wrong direction. 

WHO:    Epstein anomaly is present at birth but the signs and symptoms can occur at any age. If the defect is very severe, problems will start right after a baby is born. If the problem is minor, then symptoms may be delayed until people become teenagers or even adults. Because some cases are never diagnosed, the true number of people with this disease is unknown. Some experts estimate that Ebstein anomaly occurs in 1 out of every 20,000 children. Ebstein anomaly seems to be more common in Caucasians, and there is no difference between boys and girls. 

SIGNS & SYMPTOMS:    The main problem in Ebstein anomaly is that the tricuspid valve is not located in the correct position. The valve is not only in the wrong position, but it also leaks because the parts don’t all move correctly. The leaky valve can cause blood to back up into the rest of the body, causing swelling of the legs and belly, an enlarged liver and difficulty breathing. If the blood backs up through the connection between the left and right atria, then there is mixing of oxygenated and unoxygenated blood that is carried to the body. This can cause a bluish discoloration of the fingers and lips called cyanosis. The hole between the atrial chambers can also allow blood clots to pass from the right side of the heart to the left and possibly cause strokes in the brain or tissue damage in the heart. Sometimes, children with Ebstein anomaly may also have an abnormal heart rhythm that can possibly cause fainting, a feeling of their heart racing or skipping beats, shortness of breath, or dizziness. 

POSSIBLE CAUSES:    Like most forms of heart disease present at birth, many factors, including genetics and the environment, are thought to interact and cause Ebstein anomaly. Unfortunately, no one has identified the gene or genes that are responsible for Ebstein anomaly and the environmental factors are still poorly understood. Current research is looking at these questions and other possible causes of heart disease present at birth. 

DIAGNOSIS:    Ebstein anomaly can sometimes be first identified based on signs and symptoms found on physical examination. A physician may hear a heart murmur or extra heart sounds when he or she listens to your child’s chest with a stethoscope. A chest x-ray may show an enlarged heart depending on how severely the tricuspid valve is displaced. An electrocardiogram (EKG) may be done to check for heart rhythm problems or for signs of heart chamber enlargement. The diagnosis is confirmed by an echocardiogram, which looks at the structures of the heart. The echocardiogram allows the pediatric cardiologist to examine the valves and check to see how leaky they are and how much blood is backing up to the rest of the body. Certain patients with Ebstein anomaly may need to have some soft tubing with dye placed in the leg vein and advanced into the heart (cardiac catheterization) to measure pressures and take pictures of their anatomy to completely evaluate their heart function. 

TREATMENT:    Treatment usually depends on how severe the heart defect is. Mild cases usually require no specific treatment, only antibiotics for dental and other kinds of surgeries. Special medications can also be used when too much blood goes the wrong direction and causes heart failure or if abnormal heart rhythms exist. In some cases, surgery may be required, specifically to repair or even replace the tricuspid valve, to close any connection between the atria, and to fix the parts of the right ventricle that are acting like the right atrium. The abnormal heart rhythms can be corrected either at the time of the initial surgery by removing the muscle causing the problem or it can be corrected with catheterization and high energy radio waves to destroy that small part of muscle. 

PROGNOSIS:    The outcome usually depends on how early in life the child started having signs or symptoms and how badly the tricuspid valve is leaking. The earlier that heart failure or abnormal rhythms begin, the more serious is the condition. For those children diagnosed after one year of life, the outcome is usually very good with people living normal lives. Of course they will have to see a cardiologist for routine exams, echocardiograms and medication management. Depending on how leaky the valve is, your child may be restricted from certain activities or intense competitive sports. Your child will also have to take antibiotics prior to and just after any dental procedures or other surgeries.