Ebstein Anomaly

An introduction to the Symptoms, Diagnosis and Treatment for Ebstein Anomaly

Overview

Ebstein anomaly is a rare heart defect that’s present at birth (congenital). In Ebstein anomaly, your tricuspid valve — the valve between the two right heart chambers (right atrium and right ventricle) — doesn’t work properly. The tricuspid valve sits lower than normal in the right ventricle, and the tricuspid valve’s leaflets are abnormally formed. Blood may leak back through the valve, making your heart work less efficiently. Ebstein anomaly may also lead to enlargement of the heart or heart failure.

A significant proportion of people with Ebstein anomaly will also have a communication between the top two chambers of the heart – an atrial septal defect (ASD). Abnormal electrical activity of the heart, leading to abnormal heartbeats (arrhythmia) is also a common problem for people with Ebstein anomaly.

If you have no signs or symptoms associated with Ebstein anomaly, careful monitoring of your heart may be all that’s necessary. If signs and symptoms bother you, or if the heart is enlarging or becoming weaker, treatment for Ebstein anomaly may be necessary. Treatment options include medications and surgery.

Ebstein Anomaly

Symptoms

Mild forms of Ebsteins anomaly may not cause symptoms until later in adulthood. If signs and symptoms are present, they may include:

  • Shortness of breath, especially with exertion
  • Fatigue
  • Heart palpitations or abnormal heart rhythms (arrhythmias)
  • A bluish discoloration of the lips and skin caused by low oxygen (cyanosis)

 

Diagnosis

To diagnose Ebstein anomaly, your doctor may review your signs and symptoms and conduct a physical examination. If your doctor suspects an underlying problem, such as congenital heart disease, or if you have other signs and symptoms that may suggest Ebstein anomaly, your doctor may recommend several tests, including:

  • Echocardiogram: This test is often used to diagnose Ebstein anomaly and other congenital heart defects. In this test, sound waves produce detailed images of your heart. This test assesses the structure of your heart, the tricuspid valve and the blood flow through your heart. Your doctor may also order a transesophageal echocardiogram. In this test, your doctor inserts a tube with a tiny sound device (transducer) into the part of your digestive tract that runs from your throat to your stomach (oesophagus). Because the oesophagus lies close to your heart, the transducer provides a detailed image of your heart.
  • Electrocardiogram (ECG): An ECG uses sensors (electrodes) attached to your chest and limbs to measure the timing and duration of your heartbeat. An ECG can help your doctor detect irregularities in your heart’s rhythm and structure and offer clues as to the presence of an extra pathway.
  • Chest X-ray: A chest X-ray shows a picture of your heart, lungs and blood vessels. It can reveal if your heart is enlarged, which may be due to Ebstein anomaly.
  • Cardiac MRI: A cardiac MRI uses magnetic fields and radio waves to create detailed images of your heart. This test may be used to determine the severity of your condition, get a detailed view of the tricuspid valve, and assess the size and function of your lower right heart chamber (right ventricle).
  • Holter monitor: This is a portable version of an ECG. It’s especially useful in diagnosing rhythm disturbances that occur at unpredictable times. You wear the monitor under your clothing. It records information about the electrical activity of your heart as you go about your normal activities for a day or two.
  • Pulse oximetry: In this test, a sensor attached to your finger or toe measures the amount of oxygen in your blood.
  • Exercise stress test: During this test, you walk on a treadmill or ride a stationary bicycle while your blood pressure, heart rate, heart rhythm and breathing are monitored. A stress test may be used to get an idea of how your heart responds to exercise. It can help your doctor decide what level of physical activity is safe for you.
  • Electrophysiology study: This test may be used to diagnose irregular heart rhythms (arrhythmias). In this test, doctors thread thin, flexible tubes (catheters) tipped with electrodes through your blood vessels to a variety of spots within your heart. Once in place, the electrodes can map the spread of electrical impulses through your heart. In addition, your doctor can use the electrodes to stimulate your heart to beat at rates that may trigger — or halt — an arrhythmia. This may help your doctor to determine if medications may help treat the arrhythmia.
  • Cardiac catheterisation: This test can reveal problems inside the heart and lungs. It’s rarely used to diagnose Ebstein anomaly. However, it may be done to confirm the condition or findings of other tests.

Treatment

Treatment of Ebstein anomaly depends on the severity of the defect and your signs and symptoms. The goal of treatment is to reduce your symptoms and avoid future complications, such as heart failure and arrhythmias. Treatments may include:

Regular monitoring

If you have no signs or symptoms or abnormal heart rhythms, your doctor may recommend only careful monitoring of your heart condition with regular check-ups. Follow-up appointments generally include a physical examination and tests. Tests may include an electrocardiogram, echocardiogram, a Holter monitor test and an exercise stress test.

Medications

If you have heart rhythm disturbances, medications may help control your heart rate and maintain normal heart rhythm. Your doctor may also prescribe medications for signs and symptoms of heart failure, if needed, such as drugs to prevent water retention (diuretics) and other medications. You also may be given medications to prevent blood clots if you have certain heart rhythm problems or a hole (atrial septal defect) between the upper heart chambers.

Surgery

Your doctor may recommend surgery when your symptoms are affecting your quality of life. Surgery may also be recommended if you have mild symptoms but your heart is beginning to enlarge and your overall heart function is beginning to decrease. Because Ebstein anomaly is rare, choose a surgeon who’s familiar with the defect and who has training and experience performing procedures to correct it.

Several different types of procedures can be used to surgically treat Ebstein anomaly and associated defects, including:

  • Tricuspid valve repair: In this procedure, surgeons reduce the size of the valve opening and allow the existing valve leaflets to come together to work properly. A band may be placed around the valve to stabilize the repair. This procedure is usually done when there’s enough valve tissue to allow for repair. Some surgeons perform a newer form of tricuspid valve repair called cone reconstruction. In cone reconstruction, surgeons separate the leaflets of the tricuspid valve from the heart muscle. The leaflets are then rotated and reattached, creating a “leaflet cone”. In some cases, your valve may need to be repaired again or your valve may need to be replaced in the future.
  • Tricuspid valve replacement: If the existing valve can’t be repaired, your surgeon may replace the valve by removing the deformed valve and inserting either a biological tissue (bioprosthetic) or mechanical valve. Mechanical valves generally aren’t used often in tricuspid valve replacement. If a mechanical valve is used, you’ll need to take a blood-thinning medication for the rest of your life.
  • Closure of the atrial septal defect: If a hole is present between the two upper chambers of the heart (atrial septal defect), your surgeon can close the hole during surgery to repair or replace the defective valve. Your surgeon can also repair other associated heart defects that may be present during surgery to repair or replace the tricuspid valve.
  • Maze procedure: If you have fast heart rhythms, your surgeon may perform the maze procedure to correct the fast heart rhythms during surgery to repair or replace the tricuspid valve. In this procedure, your surgeon makes small incisions in the upper chambers of your heart to create a pattern or maze of scar tissue. Because scar tissue doesn’t conduct electricity, it interferes with stray electrical impulses that cause some types of fast heart rhythms. Extreme cold (cryotherapy) or radiofrequency energy may also be used to create the scars.
  • Radiofrequency catheter ablation: If you have fast or abnormal heart rhythms, your doctor may perform radiofrequency catheter ablation. In this procedure, your doctor threads one or more catheters through your blood vessels to your heart. Electrodes at the catheter tips can use radiofrequency energy to damage (ablate) a small spot of heart tissue and create an electrical block along the pathway that’s causing your arrhythmia. In some cases, repeat procedures may be necessary.
  • Heart transplantation: If you have severe Ebstein anomaly and poor heart function, a heart transplant may be necessary.

Conditions We Treat

Pulmonary Valve Stenosis

Pulmonary valve stenosis is a condition in which a deformity on or near your pulmonary valve narrows the pulmonary valve opening and slows the blood flow. The pulmonary valve is located between the lower right heart chamber (right ventricle) and the pulmonary arteries. Adults occasionally have pulmonary valve stenosis as a complication of another illness, but mostly, pulmonary valve stenosis develops before birth as a congenital heart defect. Pulmonary valve stenosis ranges from mild to severe. Mild pulmonary stenosis doesn't usually worsen over time, but moderate and severe cases may worsen and require surgery. Fortunately, treatment is generally highly successful, and most people with pulmonary valve stenosis can expect to lead normal lives. Find Out More >>

Patent Foramen Ovale

A patent foramen ovale (PFO) is a hole in the heart that didn't close the way it should have after birth. During fetal development, a small flap-like opening — the foramen ovale — is present in the wall between the right and left upper chambers of the heart (atria). It normally closes during infancy. When the foramen ovale doesn't close, it's called a patent foramen ovale. Patent foramen ovale occurs in about 25% of the normal population, but most people with the condition never know they have it. Learning that you have a patent foramen ovale is understandably concerning, but most people never need treatment for this condition. A patent foramen ovale is often discovered during tests for other problems. In certain conditions, such as unexplained strokes (cryptogenic stroke) in young people, closure might be recommended by your doctor. Find Out More >>

Tetralogy of Fallot

Tetralogy of Fallot is a rare condition caused by a combination of four heart defects that are present at birth (congenital). These defects, which affect the structure of the heart, cause oxygen-poor blood to flow out of the heart and to the rest of the body. Tetralogy of Fallot is usually diagnosed during infancy or soon after. However, it might not be detected until later in life in some adults, depending on the severity of the defects and symptoms. With early diagnosis followed by appropriate surgical treatment, most people who have Tetralogy of Fallot live relatively normal lives. Many adults with repaired Tetralogy of Fallot will require another procedure or intervention during their lifetimes. It is important to have regular follow-up with a cardiologist trained in congenital heart disease who can evaluate you and determine the appropriate timing of another intervention or procedure. At the Irish Congenital Heart Centre, our specialists have trained in congenital heart disease and are expert at caring for people with Tetralogy of Fallot. Find Out More >>

Partial Anomalous Pulmonary Venous Return

Partial anomalous pulmonary venous return, sometimes called partial anomalous pulmonary venous connection, is a heart defect present at birth (congenital) in which some of the pulmonary veins carrying blood from the lungs to the heart flow into other blood vessels or into the heart's upper right chamber (right atrium), instead of correctly entering the heart's upper left chamber (left atrium). This causes some oxygen-rich blood from the lungs to mix with oxygen-poor blood before entering the right atrium. Some people with this defect also have a hole between the upper heart chambers (atrial septal defect), which allows blood to flow between the upper heart chambers (atria). People with this condition may also have other congenital heart defects. Find Out More >>

Ebstein Anomaly

Ebstein anomaly is a rare heart defect that's present at birth (congenital). In Ebstein anomaly, your tricuspid valve — the valve between the two right heart chambers (right atrium and right ventricle) — doesn't work properly. The tricuspid valve sits lower than normal in the right ventricle, and the tricuspid valve's leaflets are abnormally formed. Blood may leak back through the valve, making your heart work less efficiently. Ebstein anomaly may also lead to enlargement of the heart or heart failure. A significant proportion of people with Ebstein anomaly will also have a communication between the top two chambers of the heart - an atrial septal defect (ASD). Abnormal electrical activity of the heart, leading to abnormal heartbeats (arrhythmia) is also a common problem for people with Ebstein anomaly. If you have no signs or symptoms associated with Ebstein anomaly, careful monitoring of your heart may be all that's necessary. If signs and symptoms bother you, or if the heart is enlarging or becoming weaker, treatment for Ebstein anomaly may be necessary. Treatment options include medications and surgery. Find Out More >>

Atrial Septal Defect

An atrial septal defect (ASD) is a hole in the wall between the two upper chambers of your heart (atria). The condition is present at birth (congenital). Small defects may never cause a problem and may be found incidentally. It's also possible that small atrial septal defects may close on their own during infancy or early childhood. Large and long-standing atrial septal defects can damage your heart and lungs. An adult who has had an undetected atrial septal defect for decades may have a shortened life span from heart failure or high blood pressure that affects the arteries in the lungs (pulmonary hypertension). Surgery may be necessary to repair atrial septal defects to prevent complications. Find Out More >>

Atrioventricular Canal Defect

Atrioventricular canal defect is a combination of heart problems resulting in a defect in the centre of the heart. The condition occurs when there's a hole between the heart's chambers and problems with the valves that regulate blood flow in the heart. Sometimes called endocardial cushion defect or atrioventricular septal defect, atrioventricular canal defect is present at birth (congenital). The condition is often associated with Down Syndrome. Atrioventricular canal defect allows extra blood to flow to the lungs. The extra blood forces the heart to overwork, causing the heart muscle to enlarge. Untreated, atrioventricular canal defect can cause heart failure and high blood pressure in the lungs. Doctors generally recommend surgery during the first year of life to close the hole in the heart and to reconstruct the valves. Find Out More >>

Bicuspid Aortic Valve

Bicuspid aortic valve is the commonest form of congenital heart disease. Approximately 1% of the population are born with this condition. A bicuspid aortic valve is an aortic valve that has only two leafelts (bicuspid) instead of the normal three leaflets (tricuspid) . Some people may also be born with one (unicuspid) or four (quadricuspid) leaflets, but these are rare. A bicuspid aortic valve may cause the heart's aortic valve to narrow (aortic valve stenosis). This narrowing prevents the valve from opening fully, which reduces or blocks blood flow from the heart to the body. In some cases, the bicuspid aortic valve doesn't close efficiently, causing blood to leak backward into the left ventricle (aortic valve regurgitation). Some people with a bicuspid aortic valve may develop an enlarged aorta — the main blood vessel leading from the heart (see also  our Aortopathy section) Most people with a bicuspid aortic valve aren't affected by valve problems until they are adults, and some may not be affected until they are older adults. However if you are known to have a biscupid aortic valve, you should be followed up by a cardiologist at regular intervals. Find Out More >>

Coarctation of the Aorta

Coarctation of the aorta — or aortic coarctation — is a narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen-rich blood to your body. When this occurs, your heart must pump harder to force blood through the narrowed part of your aorta. Coarctation of the aorta is generally present at birth (congenital). The condition can range from mild to severe, and might not be detected until adulthood, depending on how narrowed the aorta is. Coarctation of the aorta often occurs along with other heart defects. While treatment is usually successful, the condition requires careful lifelong follow-up. Find Out More >>

Ventricular Septal Defect

A ventricular septal defect (VSD) is a type of hole in the heart. It is 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. This means that 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. Find Out More >>

Transposition of the Great Arteries

Transposition of the great arteries is a serious but rare heart defect present at birth (congenital), in which the two main arteries leaving the heart are reversed (transposed). The condition is also called dextro-transposition of the great arteries. A rarer type of this condition is called levo-transposition of the great arteries. Transposition of the great arteries changes the way blood circulates through the body, leaving a shortage of oxygen in blood flowing from the heart to the rest of the body. Without an adequate supply of oxygen-rich blood, the body can't function properly and your child faces serious complications or death without treatment. Transposition of the great arteries is usually detected either prenatally or within the first hours to weeks of life. Corrective surgery soon after birth is the usual treatment for transposition of the great arteries, and with proper treatment, the outlook is promising. Even when this condition is diagnosed and treated early in childhood, there is a potential to develop complications later in life. All people with Transposition of the Great Arteries should have lifelong follow up with a congenital heart specialist. Our experts at the Irish Congenital Heart Centre are trained in congenital cardiology and have vast experience in treating people with Transposition of the Great Arteries. Find Out More >>

Hypoplastic Left Heart Syndrome

Hypoplastic left heart syndrome is a complex and rare heart defect present at birth (congenital). The left side of the heart is critically underdeveloped in hypoplastic left heart syndrome. If your baby is born with hypoplastic left heart syndrome, the left side of the heart can't effectively pump blood to the body. Instead, the right side of the heart must pump blood to the lungs and to the rest of the body. Medication to prevent closure of the connection (ductus arteriosus) between the right and left sides, followed by either surgery or a heart transplant, is necessary to treat hypoplastic left heart syndrome. With advances in care, the outlook for babies born with hypoplastic left heart syndrome is better now than in the past. All people who are born with hypoplastic left heart syndrome will have undergone multiple complex cardiac surgeries and require lifelong follow up by a specialist congenital heart expert. Find Out More >>

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