Ebstein Anomaly :Causes-Symptoms-Diagnosis-Treatment

What is Ebstein's Anomaly?

Ebstein's anomaly, also called Ebstein's malformation, is a rare congenital heart defect.

In patients with Ebstein's anomaly, the valve between the chambers on the right side of the heart (the tricuspid valve) does not close correctly. This can cause blood to flow backwards from the rest of the body and get pumped out to the lungs, which doesn't provide enough oxygen to the rest of the body.

The tricuspid valve has three small leaflets. Normally these leaflets open so that blood can flow from the right atrium (the top chamber of the heart) down into the right ventricle (the bottom chamber of the heart). The valve closes while the heart is pumping, preventing blood from flowing backwards. This image shows the parts of the heart.

What is Ebstein's Anomaly?
Ebstein's Anomaly

If you have Ebstein's anomaly, the flaps on the tricuspid valve are abnormally large or adhered to the heart wall. This can cause the valve to not function properly, and sometimes two of the valve flaps will be located in the ventricle where they don't belong. As a result of these abnormalities, the valve can become blocked. The heart cannot properly close and open, which can lead to blood leakage backwards into the atrium.

The misplaced valve flaps in the ventricle cause a section of the ventricle to become part of the right atrium. This creates an oversized right atrium, which also causes the right ventricle to expand as it pumps harder and harder to push blood to the lungs. Over time, the enlarged right side can cause problems with the heart. A weakened heart can lead to heart failure.

  1. Circulatory system

  1. Heart

  2. Arteries

  3. Veins

  4. Blood vessels

Medical terms

  • Ebstein anomaly is a rare heart defect that' gift at birth (congenital). During this condition, your right atrioventricular valve is within the wrong position and therefore the valve' flaps (leaflets) are malformed. As a result, the valve doesn't work properly. Blood might leak back through the valve, creating your heart work less efficiently. Ebstein anomaly may result in enlargement of the center and heart failure. If you've got no signs or symptoms related to Ebstein anomaly, regular observation of your heart can be all you would like. you would possibly need treatment if signs and symptoms trouble you or if your heart is enlarging or weakening. Treatment choices embrace medications and surgery. 
  • Ebstein anomaly is a left-sided heart abnormality that involves the tricuspid valve The tricuspid valve separates blood flow between the right atrium and right ventricle in the heart In people with Ebstein anomaly there are three cusps (or flaps) instead of two leaflets on the valve causing it to be floppy and unable to close completely This allows blood to leak into the right atrium and right ventricle more easily than normal The condition can lead to multiple complications including poor growth heart failure respiratory problems and pulmonary hypertension—a high blood pressure situation which affects.

Ebstein anomaly is a relatively rare cardiac defect in which there is partial or complete absence of the tricuspid valve associated with an abnormality in the membrane that separates the atria from the ventricles This can cause heart abnormalities and congenital heart disease Ebstein's anomaly occurs equally in both males and females (M:F 1:1).

Symptoms Ebstein Anomaly

Ebstein's anomaly is a rare heart defect that occurs in about one out of twenty thousand infants.

Ebstein's anomaly is often associated with a small hole in the wall between the two upper chambers of the heart – and heart rhythm abnormalities.

What are the symptoms of Ebstein’s anomaly? Ebstein’s anomaly is a birth defect that can cause problems with the development of the heart and other organs in the body. Some common symptoms of Ebstein’s anomaly include heart defects, liver problems, and problems with the brain and spine.

The severity of Ebstein's anomaly affects the symptoms. The more severe the defect, the worse the symptoms will be.

If a defect is severe, it will usually be diagnosed at birth or in the early weeks of life. The baby's skin may have a blue tint, which can be one sign of the problem. Early symptoms of heart failure may also occur. If symptoms appear early on, the condition is usually severe. You need to receive immediate treatment if you get this condition.

Ebstein's anomaly is a defect that can be found in adulthood. Sometimes it is mild in childhood, but it can become more severe over time and symptoms may develop. The most common symptoms in adults are shortness of breath, sometimes accompanied by other symptoms. People who experience chest pain and difficulty breathing during exercise are at risk for arrhythmia.

If you have Ebstein’s anomaly, you should see a cardiologist who specializes in adult congenital heart defects. The doctor will use an electrocardiogram (ECG) to check your heart's size, pumping ability, and other factors.Rhythm is important.

Mild forms of Ebstein anomaly might not cause symptoms until later in adulthood. Signs and symptoms might 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)

When to see a doctor

If your kid has signs or symptoms of heart condition — reminiscent of feeling simply tired or in need of breath, even with traditional activity — or if the skin around the lips and nails appear blue or you have swelling of your legs, consult with your doctor. He or she could refer you to a doctor who focuses on non heritable heart disease (cardiologist).

Causes Ebstein Anomaly

Ebstein anomaly may be a heart defect that you simply have at birth (congenital). The cause is unknown. to know however Ebstein anomaly affects your heart, it helps to know how the guts works to provide your body with blood.The right atrioventricular valve is generally manufactured from 3 parts, known as leaflets or flaps. The leaflets receptive permit blood to maneuver from the proper atrium (top chamber) to the right ventricle (bottom chamber) whereas the heart relaxes. They near to forestall blood from moving from the right ventricle to the right atrium while the heart pumps.In individuals with Ebstein anomaly, the leaflets are placed deeper into the proper ventricle rather than the conventional position. The leaflets are often larger than normal. The defect most frequently causes the valve to figure poorly, and blood may go the incorrect way. rather than flowing bent the lungs, the blood flows back to the right atrium. The backup of blood flow will result in heart enlargement and fluid buildup within the body. There may additionally be narrowing of the valve that ends up in the lungs (pulmonary valve). In several cases, individuals even have a hole in the wall separating the heart' 2 higher chambers (atrial body part defect) and blood flow across this hole might cause oxygen-poor blood to travel to the body. This could cause cyanosis, a blue tint to the skin caused by oxygen-poor blood. Ebstein anomaly happens as a baby develops within the womb. The precise cause is unknown. the employment of bound medication (such as Li or benzodiazepines) throughout physiological state may play a role. The condition is rare. It's very common in white people.

How your heart works

Your heart is formed from four chambers. the 2 higher chambers (atria) receive blood. The 2 lower chambers (ventricles) pump blood. Four valves open and shut to let blood flow in one direction through the heart. Every valve consists of two or 3 strong, skinny flaps (leaflets) of tissue. A closed valve prevents blood from flowing to the succeeding chamber or from returning to the previous chamber. Oxygen-poor blood from your body flows into the correct atrium. Blood then flows through the right atrioventricular valve into the right ventricle, that pumps the blood to your lungs. On the opposite facet of your heart, oxygen-rich blood from your lungs flows into the left atrium, through the left atrioventricular valve and into the left ventricle, that then pumps the blood to the remainder of your body.

What happens in Ebstein anomaly

The atrioventricular valve usually sits between the 2 right heart chambers (right atrium and right ventricle). In the Ebstein anomaly, the angular  valve sits below traditional within the right ventricle. This makes it so that a little of the proper ventricle becomes a part of the right atrium, causing the right atrium to enlarge and not work properly. Also, the tricuspid valve' leaflets are abnormally shaped. This may cause blood unseaworthy backward into the right atrium (tricuspid valve regurgitation). The placement of the valve and the way it's formed varies from person to person. Some individuals have a gently abnormal valve. Others have a valve that leaks severely.

Other heart conditions associated with Ebstein anomaly

Common associated heart conditions include:

  • Holes in the heart. Many folks with Ebstein Associate in Nursing O'malley have a hole between the 2 higher chambers of the guts known as an chamber congenital heart defect or a gap called a patent hiatus ovale (PFO). A PFO may be a hole between the upper heart chambers that everyone babies have before birth that typically closes once birth. It will stay open in some people while not inflicting issues. These holes can decrease the number of O offered in your blood, causing a chromatic discoloration of the lips and skin (cyanosis). 

  • Abnormal heartbeats (arrhythmias). An abnormal regular recurrence or speedy heartbeats build it tough for the center to figure properly, particularly once the atrioventricular valve is unseaworthy severely. Sometimes, an awfully quick heart rhythm causes fainting spells (syncope). 

  • Wolff-Parkinson-White (WPW) syndrome. People with WPW syndrome have an abnormal electrical pathway within the heart which will cause quick heart rates and fainting spells. 

Risk factors Ebstein Anomaly

Congenital heart defects, akin to Ebstein anomaly, occur because the baby' heart develops within the mother's womb. Doctors aren't certain what risk factors are related to the defect. Genetic and environmental factors are believed to play a role. A case history of heart defects or a mother' use of bound medications, such as lithium, throughout maternity would possibly increase the danger of Ebstein anomaly in the child.

Can you live with Ebstein anomaly?

Ebstein anomaly is a congenital heart defect characterized by the lack of one or more of the tricuspid valve leaflets The deformity may range from mild to severe The severity of this heart condition ranges from having only a mild murmur to presenting with cyanosis and/or congestive heart failure Although Ebstein anomaly is not necessarily life-threatening people living with this congenital heart disease need to follow a treatment plan that includes surgery and medications to prevent complications such as arrhythmias (abnormal heart rhythms) Your doctor will determine which type of treatment you need based on your symptoms and difficulties.

How long do people live with the Ebstein anomaly?

Ebstein anomaly is a rare heart defect that affects the development of the tricuspid valve and causes it to sit high in the right atrium The main symptom with this condition is an enlarged right atrium causing a higher risk of blood clots forming in the right atrium and being pumped into the lungs This condition can be life-threatening if left untreated A person who suffers from Ebstein anomaly may live into adulthood or grow old enough to reproduce; however there are no definitive statistics on how long people live with this condition Many babies undergo surgery shortly after birth that can help decrease their risk of.

How do you get Ebstein anomaly?

You get Ebstein anomaly when the tricuspid valve between your right atrium and right ventricle is abnormal The abnormality causes blood to leak backward (regurgitate) into the wall of the right ventricle flooding your lungs with too much oxygen-rich blood In severe cases this can cause heart failure It’s not clear what causes patients with Ebstein anomaly to develop heart failure later in life It could be that accumulated scar tissue damages the normally functioning valve or that other parts of the heart enlarge due to muscle strain caused by overuse from pumping too much blood through them for.

What happens in Ebstein anomaly?

Ebstein anomaly is a heart defect characterized by a flat spot in the tricuspid (the valve at the right side of your heart) and an abnormal band of tissue connecting the lower parts of the right and left ventricles The word Ebstein refers to German pediatrician who first described this type of defect.

Why does the Ebstein anomaly have a box shaped heart?

Ebstein anomaly usually occurs when the tricuspid valve is displaced downward and to the right of its normal position This compressed area creates a small box-shaped heart that cannot contract normally The result of this malformation is that oxygenated blood can flow back into the right atrium through the tricuspid valve causing a backup of unoxygenated blood in the lungs.

Complications Ebstein Anomaly

Mild Ebstein anomalies may not cause any complications.

However, possible complications of Ebstein anomaly include:

  • Heart failure

  • Sudden cardiac arrest

  • Stroke

Taking some precautions before taking part in sports or changing into pregnancy might facilitate forestall complications. If your heart size is almost traditional and you have no regular recurrence disturbances, you'll be able to in all probability participate in most physical activities. betting on your signs and symptoms, your doctor might suggest that you simply avoid competitive sports, akin to soccer or basketball. If you're designing on having a baby, check with your doctor. Many ladies with delicate Ebstein anomalies can safely have children. however pregnancy, labor and delivery place extra strain on your heart. Rarely, severe complications can develop that will cause death to mother or baby. Together, you and your doctor can decide what proportion of observance you wish throughout gestation and childbirth. Sometimes, alternative treatments for your condition or symptoms are also counseled before you become pregnant.

Diagnosis Ebstein Anomaly

If you or your kid doesn't have signs or symptoms of heart trouble, the doctor would possibly suspect a retardant solely once hearing abnormal heart sounds throughout a routine physical exam. Abnormal heart sounds, love a heart murmur, aren't sometimes cause for concern. However, your doctor or your child' doctor can possibly refer you to a doctor who specializes in treating heart conditions (cardiologist) to see the cause. A chest X-ray is going to be taken to appear at the dimensions of the heart, which can be larger than normal. Often, the diagnosis of Ebstein' anomaly is suspected because of the massive heart on chest X-ray. An associate sonogram is employed to diagnose Ebstein' anomaly. It conjointly helps determine any further heart defects. This takes a look at permits the pediatric medical specialist (heart doctor) to see the degree of valve displacement, the severity of valve outpouring (insufficiency) or valve narrowing (stenosis). It also helps see the dimensions of the guts chambers, and if an open opening is present. associate ECG (ECG) records the heart' rhythm. If your kid has complained a few athletics hearts and also the answer isn't found during this initial test, they may go back with a recorder. Your kid can also have an associate exercise check done to higher inspect their heart to perform throughout activity. Some patients with abnormal rhythms may have additional testing to spot and treat their heart rhythm problems. Invasive diagnostic testing isn't as normally performed today. bound patients with Ebstein' anomaly may need viscus catheterization to totally look at their cardiac anatomy and function.

Your doctor might recommend several tests, including:

  • Echocardiogram. This takes a look at using sound waves to supply} detailed pictures of your heart. It shows the structure of your atrioventricular valve and therefore the blood flow through your heart. Sometimes, a transesophageal sonography is done. This test uses a tube with a small sound device (transducer) inserted into the a part of your willall|alimentary tract|digestive tube|gastrointestinal tract|GI tract|duct|epithelial duct|canal|channel} that runs from your throat to your abdomen (esophagus). As a result of your gullet lying getting ready to your heart, this test can provide a close image of your heart. 

  • Electrocardiogram (ECG). Sensors (electrodes) hooked up to your chest and limbs live the temporal order and length of your heartbeat. A cardiogram will facilitate show issues along with your heart' rhythm and structure. Some personal devices, comparable to smartwatches, supply remote ECG monitoring. raise your doctor if this is often a choice for you. 

  • Holter monitor. A Holter monitor may be a transportable EKG device that you just wear from the doctor' office. It records your heart' electrical activity as you perform your traditional activities for each day or two. 

  • Chest X-ray. A chest X-ray is a picture of your heart, lungs and blood vessels. It can tell your doctor if your heart is enlarged.

  • Cardiac MRI. An internal organ magnetic resonance imaging uses magnetic fields and radio waves to make detailed pictures of your heart. This check offers your doctor a close read of your angulate valve. It permits your doctor to ascertain the dimensions of your heart chambers and the way they work well. 

  • 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, your blood pressure, heart rate, heart rhythm and breathing are monitored as you walk on a treadmill or ride a stationary bicycle. An exercise stress test can show how your heart responds to exercise. It can help your doctor decide what level of physical activity is safe for you.

  • Electrophysiology study (EP). To perform this test, the doctor threads thin, versatile tubes (catheters) tipped with electrodes through your blood vessels to areas inside your heart to map your heart's electrical impulses. In addition, your doctor can use the electrodes to stimulate your heart to beat at rates that will trigger — or halt — an arrhythmia. This will facilitate your doctor to verify if medications can help treat the arrhythmia. 

  • Cardiac catheterization. A long, skinny tube (catheter) is inserted into a vase in your groin, arm or neck and target-hunting your heart for X-ray imaging. A special dye injected through the tube offers your doctor a clearer read of blood flow through your heart, blood vessels and valves. Throughout the test, your doctor will leave pressures and chemical element levels in your heart and appearance for issues within the center and lungs. 

Treatment Ebstein Anomaly

Ebstein's anomaly is the most severe congenital heart defect, with a great variation in severity among all infants. Some infants with the defect do not survive gestation, while other individuals live a normal life span and never need treatment.

If you have a mild Ebstein’s malformation, as an adult you may not need any treatment for years. If you have an arrhythmia, which is an irregular heartbeat, you may be treated with medication to control your heart rate and rhythm. Depending on the severity of the arrhythmia, you may need nonsurgical treatment such as radiofrequency. If you have a heart rhythm problem, you may need to have the electrical activity of your heart "fixed" with an ablation. This procedure can involve taking other medications in order to help your heart stay healthy.

There is no known cause for Ebstein’s anomaly, so the course of the condition is unpredictable. In the worst case scenario, your symptoms could become bothersome or your heart could enlarge, causing a decrease in heart function. If this happens, surgery may be necessary.

Treatment of Ebstein anomaly depends on the severity of the defect and your signs and symptoms. The goal of treatment is to scale back your symptoms and avoid future complications, cherish coronary failure and arrhythmias.

Regular monitoring

If you have no signs or symptoms or abnormal heart rhythms, your doctor may suggest observance of your cardiomyopathy with regular checkups. Follow-up appointments typically embody physical communicating associated tests such as electrocardiogram, echocardiogram, Holter monitor test and exercise stress test.


If you have got rhythm disturbances, medications may help manage your pulse rate and maintain traditional heart rhythm. Your doctor may additionally visit medications to ease signs and symptoms of heart failure, reminiscent of medicine to stop water retention (diuretics). If you have heart rhythm issues or a hole (atrial body part defect) between the higher heart chambers, your doctor may prescribe medications to prevent blood clots. Some babies are given an indrawn substance known as gas to assist improve blood flow to the lungs.

Surgery or other procedures

Your doctor would possibly advocate surgery if your symptoms are poignant to your quality of life. Surgery may also be suggested if your heart is enlarging and your heart performance is decreasing. If you want surgery, it's vital to settle on a physician who's accustomed to the defect and who has coaching and knowledge of playing procedures to correct it. Many varieties of procedures are wont to surgically treat Ebstein anomaly and associated defects.

  • Tricuspid valve repair. Surgeons cut back the scale of the valve gap and permit the valve leaflets to return along to figure properly. A band can be placed round the valve to stay it in place. This procedure is typically done once there's enough valve tissue to permit repair. A more recent kind of atrioventricular valve repair is termed cone reconstruction. Surgeons separate the leaflets of the tricuspid valve from the guts muscle. The leaflets are then turned and reattached, making a "leaflet cone." Sometimes, your valve may have to be repaired once more or replaced within the future. 

  • Tricuspid valve replacement. If the valve can't be repaired, your MD could possibly take it away and replace it with either a biological tissue (bioprosthetic) or mechanical valve. Mechanical valves aren't used typically for atrioventricular valve replacement. If you've got a mechanical valve, you would like a blood agent to stop blood clots. If you have any kind of artificial valve, you ought to take medication to prevent an inflammation of the inner lining of your heart (endocarditis) before dental procedures. 

  • Closure of the atrial septal defect. If there's a hole between the upper chambers of the heart (atrial septal defect), your surgeon can repair or replace the defective valve. Your surgeon can also repair other heart defects you have during this surgery.

  • Maze procedure. If you've got quick heart rhythms, your operating surgeon might perform the Maze procedure throughout valve repair or replacement surgery. During this procedure, your surgeon makes tiny incisions within the higher chambers of your heart to make a pattern, or maze, of connective tissue. As a result of scar tissue not conducting electricity, it interrupts the stray heart signals that cause some sorts of arrhythmias. Extreme cold (cryotherapy) or heat (radiofrequency) energy can also be wont to create the scars. 

  • Radiofrequency catheter ablation. If you've got quick or abnormal heart rhythms, your doctor would possibly perform this procedure. Your doctor threads one or a lot of catheters through your blood vessels to your heart. Sensors at the ideas of the catheters use heat (radiofrequency energy) to wreck (ablate) attiny low space of heart tissue. This blocks the abnormal signals that are inflicting your arrhythmia. Some individuals might have repeat procedures. 

  • Heart transplantation. If you have severe Ebstein anomaly and poor heart function, a heart transplant might be necessary.

Coping and support

If you or your kid has a gentle Ebstein anomaly, here's what you'll be able to do to manage symptoms and improve comfort.

  • Follow up on medical care. See a specialist seasoned in treating inherent cardiovascular disease for normal checkups. Report new or worsening signs or symptoms to the doctor. Timely treatment will keep the condition from worsening. 

  • Take medications as prescribed. Taking the right dose at the right time can help ease symptoms such as racing heartbeats, fatigue and shortness of breath.

  • Stay active. Be as physically active as your or your child' doctor allows. Exercise can strengthen the guts and improve blood flow. Encourage leisure with breaks as needed. raise the doctor for a note you'll provide to your child' lecturers or caregivers describing activity restrictions. 

  • Create a support network. Although many folks with non heritable heart defects lead normal, healthy lives, living with a heart defect is often difficult if you or your kid wants specialized care. a significant health condition can produce a physical, emotional and money strain. Having family and friends you'll have faith in is critical. Some people realize that support teams are a useful supply of information, comfort and friendship. 

Preparing for your appointment

Your medical care doctor could refer you to a doctor who focuses on treating heart conditions (cardiologist). Here's some data to assist you make preparations for your appointment.

What you can do

When you build the doctor' appointment, take care to raise it if you wish to try to do something in advance, corresponding to limiting your or your child's diet. Write down the subsequent info and take it with you to the appointment:

  • Symptoms, including any that may seem unrelated to the reason for your appointment

  • When the symptoms began

  • All medications, vitamins and supplements currently being taken, including doses

  • Questions to ask the doctor

If you're seeing a new doctor, request that a copy of medical records be sent to the new office.

For Ebstein anomaly, specific questions to ask your doctor include:

  • What's the most likely cause of these symptoms?

  • What kinds of tests do I or my child need?

  • What treatments are available, and which do you recommend?

  • What side effects can the treatment cause?

  • How can I best manage this condition with other conditions I have or my child has?

  • Do I or does my child need to restrict activity?

  • Are there brochures or other printed material I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your doctor is likely to ask you questions, such as:

  • How often do you have symptoms?

  • Does anything seem to improve the symptoms?

  • What, if anything, makes symptoms worse?

  • What medications are you or your child taking?

General summary

  1. Ebstein's anomaly is not curable but the symptoms can be treated Surgery may be necessary to place a tube in the heart to repair holes or defects Patients who have this condition should follow their doctor's instructions and get regular checkups Consult a physician if you have any of the following symptoms: shortness of breath rapid breathing fainting or sudden death It is possible that having this condition could increase your risk for infection and bleeding problems as well as other cardiac abnormalities.

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