Ebstein’s Anomaly

1 What is Ebstein’s Anomaly?

Ebstein’s anomaly is a rare heart condition present at birth (congenital). In Ebstein’s anomaly, the tricuspid valve is faulty that allows some blood to flow back and makes the heart work less efficiently. The tricuspid valve prevents blood flowing back into the right ventricle when the heart contracts.

Ebstein’s anomaly causes the heart to work harder, causing enlargement of the heart muscles. This actually makes reduces the capacity of the heart to pump blood, leading to a serious condition called heart failure. Having heart failure means that the heart cannot pump enough blood to meet the demands of the body.

In some patients, Ebstein’s anomaly does not cause any symptoms.

Treatment is only needed if the symptoms cause problems in daily activities or if tests show enlargement or weakening of the heart. Ebstein’s anomaly is treated medicines and surgery.

2 Symptoms

Ebstein’s anomaly can be so mild that it does not cause any symptoms.

If it does, you experience the following:

  • Shortness of breath that becomes worse with exertion
  • Unexplained fatigue
  • Frequent palpitations, and sometimes, you feel that your heart beating erratically and without rhythm (arrhythmia)
  • Bluish discoloration of the lips, nail beds, and skin, caused by insufficient oxygen levels in the blood

Ebstein’s anomaly causes heart failure that needs immediate medical attention. Symptoms of heart failure include fatigue, lightheadedness, confusion, rapid heart rate and shortness of breath.

For diagnosing and treating Ebstein’s anomaly, you are likely to be referred to an a cardiologist, which specializes in managing heart diseases.

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3 Causes

The exact cause on why Ebstein’s anomaly develops is still not known. Ebstein’s anomaly is a congenital condition, which means it develops in the womb. 

To understand what happens in Ebstein’s anomaly, you need to understand the normal heart function. The heart has four chambers, the right ventricle, right atrium, left ventricle and left atrium. The two lower chambers are the ventricles that do most of the pumping work of the heart while the atrium are the two upper chambers that collect blood before transferring it to the ventricles. Blood flows from atrium to the ventricles through the valves including the tricuspid valve.

In the case of Ebstein’s anomaly, the tricuspid valve has a defect causing incomplete closure. This causes the blood to flow back to the right atrium when the heart contracts, reducing heart’s efficiency and causing the heart to beat faster to compensate.

In addition to incomplete closure, the tricuspid valve is also located far down into the right ventricle. This makes the affected area of the right ventricle a part of the right atrium that further reduces heart efficiency. Ebstein’s anomaly becomes worse as the faulty valve leaks more and more blood.

Over time, the right atrium enlarges as it expands to receive more blood. The right ventricle also enlarges as it struggles to pump out blood. As the right atrium and right ventricle enlarge, they weaken resulting in heart failure and complications.

Ebstein’s anomaly is also associated with the following conditions:

  • Atrial septal defect, or a hole between the walls of the left and right atrium. This permits blood from the right atrium (containing unoxygenated blood) to flow to the left atrium (contains oxygenated blood). This reduces the oxygen content of the blood resulting in a bluish discoloration of the lips and skin.
  • Arrhythmias or abnormally fast heart rate. Arrhythmias actually reduce the efficiency of the heart to pump blood, especially if the tricuspid valve is already leaking badly. Arrhythmias reduce blood supply to the organs, causing lightheadedness, fainting, and chest pain.
  • Wolff–Parkinson–White syndrome, which is a feature in some patients with Ebstein’s anomaly. In this condition, there is another extra electrical pathway in the heart. This extra pathway bypasses the normal pathway meant to keep the heart beat in rhythm. Because of the extra source of electrical signal, one part of the heart beats differently, either too fast or out of rhythm, compared to the rest of the heart resulting in heart failure and arrhythmias

4 Making a Diagnosis

Diagnosing Ebstein's anomaly can require several examinations and checkups.

Ebstein’s anomaly may not produce symptoms. The condition causes abnormal heart sounds that can be heard by the doctor during routine exams, but this can be caused by other conditions as well. Even abnormal heart sounds like murmurs are not usually a cause for concern. In case the doctor highly suspects you or your child has a heart problem, you will be referred to a specialist called a cardiologist that specializes in treating heart diseases.

You can get ready and help in the diagnosis by doing the following:

  • Ask if there are any restrictions, like diet and not taking certain medicines, that must be done before checkups
  • List down important things such as felt symptoms and times they first appeared, as well as taken medications and vitamins.
  • In case you are changing doctors, have your medical records in hand and forwarded to your current doctor.

Be prepared in advance and have a list of questions you might want to ask your doctor, in case time is limited. In case of Ebstein’s anomaly, here are some useful questions to ask:

  • What could be the cause of my symptoms?
  • What are the tests needed? Are there any required restrictions or preparations?
  • Do I need treatment, even if I don’t feel any symptoms?
  • What are the available treatment options for me? What are the side effects?
  • Are there any alternatives?
  • What should be done in case I have other health problems?
  • Are there any activity restrictions to my child or me during treatment?
  • Can I have the generic versions of drugs used for treatment?

Your doctor may ask you questions such as:

  • When the symptoms were first seen or experienced?
  • Are the symptoms continuous or tends appears occasionally?
  • Do the symptoms improve or worsen?
  • If you were previously diagnosed with Ebstein’s anomaly, were you hospitalized, have surgery or regularly took prescribed medications?

5 Treatment

The goal of treatment for Ebstein's anomaly is to reduce symptoms and prevent the development of heart complications. If the heart defect is not very severe, your doctor may only do regular monitoring. For monitoring, you will have to undergo regular checkups.

You may have to undergo procedures during checkups:

  • Physical exam
  • Electrocardiogram
  • Chest x-ray
  • Echocardiogram
  • A Holter monitor test
  • Exercise test, to check your heart’s response during strenuous activity

Medications

You may be prescribed medications to address problems in heart rhythm and heart rate. Also, you may also be given medications if you have swelling due to excess fluid buildup and heart failure.

Surgery

Ebstein’s anomaly is caused by a heart defect, and surgery may be recommended if the symptoms are becoming severe and adversely affects your quality of life. Ebstein’s anomaly is a relatively rare condition, and if you consider surgery, ask to have a surgeon familiar or has previous experience in treating the condition.

There are different surgical procedures for addressing Ebstein’s anomaly:

  • Tricupid valve repair aims to reduce the size of valve opening and cause the valves to work together like a normal heart. The doctor considers tricuspid valve repair if there is enough tissue around the affected valve. A relatively newer technique involves shaping the valve into a cone, which works much like a normal valve
  • Tricuspid valve replacement replaces the defective valve with a mechanical or specially-treated biological tissue valve. Tricuspid valve replacement is the option if the valve cannot be repaired. For mechanical valves, you will need to take blood-thinning medication for the rest of your life.
  • Closure of atrial septal defect, which involves closing the hole between your left and right atrium, may be done if present in addition to repairing the defective valve.
  • Maze Procedure, is an open-heart surgery that aims to correct fast and irregular heart rhythms by slowing down electrical impulses that stimulate the heart muscles to contract. To do this, the surgeon makes a series of incisions using a scalpel or a freezing metal tip in the right atrium where the electrical impulses travel. These incisions heal and create a barrier that slows down travel of electrical signals, so the heart rate slows down.
  • Radiofrequency catheter ablation, which involves inserting a catheter into a blood vessel and make it travel to your heart. Once imaging devices show that the catheters are in the right place, they are charged with electrical impulses to destroy a tiny spot of tissue in the heart, causing a block in the flow of electrical signals that slows down heart rate. This procedure can help resolve arrhythmia, but repeat procedures may be necessary.
  • Heart transplantation may be necessary if the valve or heart defect is very severe

6 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with Ebstein's anomaly.

Symptoms of Ebstein’s anomaly can have an adverse effect on the quality of life of you or your child.

You can cope by doing the following:

  • Quick treatment is key to better prognosis and it keeps the disease from getting worse. Follow scheduled checkups with your cardiologist or pediatrician. Actively monitor the condition and make sure to report any signs of new or worsening symptoms.
  • Take medications according to doctor’s instructions. Medicines can help reduce or prevent symptoms such as fast and irregular heartbeats, fatigue and shortness of breath.
  • You or your child should be physically active. Exercise strengthens the heart and promotes good blood circulation. The doctor will recommend the appropriate intensity or amount of exercise you or your child needs.
  • If you are a parent of the child with Ebstein’s anomaly, try to make his or her life as normal as possible. Allow enough playtime spaced with breaks as needed. You can give a note to the child’s teachers and caregivers regarding restrictions on your child’s physical activity.
  • Make sure to develop a good support network. It is not easy to live a normal life if you or your child has a heart problem like Ebstein’s anomaly, but you can find relief from your close family members, friends or others with the same condition. They can give you support and encouragement in case you got overwhelmed.

7 Risks and Complications

The exact cause of Ebstein's anomaly is unknown, but there are certain factors that increase risks.

Ebstein’s anomaly is a genetic condition that develops in the womb.

A family history of heart defects and Ebstein’s anomaly can predispose your child to the same condition.

Ebstein’s anomaly is also a risk to babies born to mothers who used drugs like lithium or benzodiazepines during pregnancy.

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