Ebstein's anomaly

Ebstein's anomaly is an abnormality in the heart valve (tricuspid valve) due to its malformation. As a result, the tricuspid valve function is affected, i.e. it does not close properly causing a disruption in the flow of blood. The blood can leak from the lower chamber to the upper chamber. This condition also occurs if a hole is formed in the atrial septum (the wall separating the upper chambers of the heart).

Patients with ebstein's anomaly of the tricuspid valve will have symptoms associated with anatomical abnormalities and the hemodynamic effects such as the following:

  • Fatigue (extreme tiredness)
  • Cyanosis (bluish discoloration of skin and lips)
  • Dyspnea (breathing difficulty) and cough
  • Palpitations, arrhythmias, and sudden cardiac death
  • Symptoms of right heart failure (for example, edema and ascites which include fluid buildup)

Other less common symptoms include:

  • Bacterial endocarditis (infection of the inner walls of the heart)
  • Paradoxical embolism, stroke, and transient ischemic attacks
  • Brain abscess due to right-to-left shunt

Ebstein anomaly of tricuspid valve is congenital, i.e. it is formed during the child birth. However, the reason why it occurs is not known. The possible reasons are as detailed below:

In ebstein’s disease, the valve between the right atrium (upper chamber) and the right ventricle (lower chamber) is present at a lower position than the normal. As a result, the lower chamber becomes a part of the upper chamber, and thus the ventricle cannot function properly.

Additionally, the leaflets of the valve are not properly formed causing a leakage of the blood back into the upper right chamber.

The other cause is the formation of a hole in the wall separating the upper two chambers. Usually, at birth this hole closes, but if it remains open, it causes mixing of pure blood with impure blood in the two chambers. This decreases the oxygen levels in the blood causing a bluish discoloration called cyanosis.

Ebstein’s anomaly happens during the development of the baby’s heart.

The risk factors for ebsteins anomaly are not known but are believed to be due to environmental and genetic factors.

If the mother is exposed to certain medications (during pregnancy) such as lithium, it can also lead to ebstein’s anomaly in the child.

Complications are not very common in people with ebstein’s anomaly. The complications that can result from the condition are:

  • Heart failure,
  • Heart rhythm problems (arrhythmias)
  • Stroke
  • Sudden cardiac arrest

Upon reviewing your signs and symptoms, your doctor will conduct a physical examination. If a congenital heart disease is suspected, then your doctor will conduct one or more of the following tests:

Test typePurpose of the test
  • Produces images using sound waves
  • To assess the structure of the heart, the valves and blood flow through the heart
  • Produces images in the form of waves
  • To measure the heartbeat (timing and the duration) and detect if any irregularities are present in the heart rhythm
  • The ebstein anomaly ECG shows abnormal peaks and depressions in the PQRS waves.
Chest X-ray
  • Generates images of the heart, lungs and blood vessels
  • The ebstein anomaly radiology reveals an enlarged heart
MRI of the heart
  • Creates more detailed images using magnetic fields and radio waves
  • To determine the severity of ebstein’s anomaly and assess the functioning of lower right heart chamber
Exercise stress test
  • Monitors the heart rate, blood pressure, and breathing during exercise while using tread mill or a stationary bicycle
  • To understand how the heart responds to exercise
Pulse oximetry
  • To measure the amount of oxygen in the blood
Electrophysiological study
  • Maps the electrical impulses through the heart
  • To diagnose irregularities in the heart rhythms

The goal of the ebstein anomaly treatment is to reduce the symptoms and to prevent the complications with ebstein’s anomaly.

Monitoring: In the case of absence of signs and symptoms, a routine monitoring of heart condition is done by performing a physical examination and other related tests.

Medications: If you have irregularities in the heart rhythm, then you will be given drugs to maintain a normal rhythm.

If you have a hole in the septal wall, you may be given medications to prevent blood clots from forming.

If you have signs of heart failure, then you may be given diuretics, to prevent fluid retention.

Surgery: If your symptoms are affecting your quality of life, then you may have to undergo ebstein anomaly surgery. Several surgical procedures are available to treat ebstein’s anomaly such as tricuspid valve repair, valve replacement, closure of the septal hole, etc.

In severe cases, heart transplantation may be required.

By taking certain steps, you or your child with ebstein’s anomaly can cope up with the condition. They are as follows:

  • Regularly going for the follow-up visits to your cardiologist to prevent worsening of the condition
  • Taking the medications as prescribed without forgetting any doses to reduce the symptoms
  • Staying physically active as suggested to strengthen your heart and improve circulation
  • Building a support group with people having similar condition to overcome the related stress