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Everything You Need to Know About Ebstein Anomaly

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Everything You Need to Know About Ebstein Anomaly

Pediatric Cardiology | by Dr. Subhendu Mandal | Published on 20/10/2023


Do you often experience shortness of breath or a fast heartbeat? If yes, then it might indicate an Ebstein anomaly. It is one of the uncommon and intricate congenital heart conditions affecting people of all ages from children to adults. This condition is named after a German healthcare expert Wilhelm Ebstein who elaborated that the condition comes with different challenges and uncertainties for the patients and their families as well. If you suspect that you might have this condition, first consult your doctor as soon as possible. Secondly, try gaining more information about the Ebstein anomaly so that you can manage it efficiently. 

For diagnosis, you can book your appointment with the only cardiac hospital in the Eastern region, BM Birla Heart Research Centre in Kolkata. You will find highly qualified and skilled cardiologists, cardiac surgeons, and other healthcare professionals here. Please note that we are providing research-based information in this blog and we don’t in any way appreciate overlooking the doctor’s consultation. 

What is Ebstein's Anomaly?

Ebstein anomaly is among the most uncommon congenital heart defects present at birth. This one of the heart conditions affects the heart valve by separating the right heart chambers top and bottom. The valve is known as the tricuspid valve. As an outcome, the valve doesn’t close the way it is supposed to, and the blood starts traveling backward i.e. from the bottom to the chamber. Due to this condition, it becomes difficult for the heart to function properly. For people who have this condition, their heart grows larger, and that eventually causes heart failure. The treatment for this condition entirely depends on the patient’s symptoms and it requires frequent complete body health checkup tests. Some people might get better with medications, while in rare cases, there might be a need for a surgical procedure. 

In people with Ebstein anomaly, the heart can grow larger. The condition can lead to heart failure.

What are Ebstein's Anomaly Symptoms?

Babies who are born with Ebstein anomaly have no symptoms at all or few of them. Some babies might have a tricuspid valve leaking leading to noticeable issues. At times, symptoms might develop later in life. Here are some of the common Ebstein anomaly symptoms that one should look for:

  • Fatigue 
  • Pounding feeling, rapid heartbeat, or arrhythmia 
  • Breath shortness, mainly when someone is indulged in an activity 
  • Blue, gray lips or fingernails, the color might change depending on the skin color of an individual

What are Ebstein's Anomaly causes?

Ebstein anomaly causes are not known as it is a congenital heart defect. However, various factors are contributing to the growth of this condition. Here are some of them:

  • Genetic Factors: It plays a pivotal role as according to research it is found that there are cases of Ebstein anomaly in which congenital heart defects are linked to particular genetic mutations. 
  • Maternal Drug and Alcohol Use: The involvement in substances like drugs or alcohol during pregnancy enhances the risk of developing congenital heart defects including Ebstein’s anomaly. Pregnant females need to stay away from such habits so that fetal growth is not interrupted. 
  • Maternal viral infections- In certain cases, this factor also plays an important role during pregnancy like rubella might enhance the risk of developing congenital heart defects along with Ebstein’s anomaly. 
  • Environmental factors- Susceptibility to some environmental toxins or radiation when a woman is pregnant puts the baby at risk of growing congenital heart defects. 
  • Unknown Factors: In some cases, the particular cause of Ebstein’s anomaly is not known.

How is Ebstein's Anomaly Diagnosed?

To diagnose Ebstein’s anomaly, the healthcare expert will involve initiating a physical assessment and listening to the heart or lungs. If an individual has this condition, the doctor might hear the heart’s rhythm. Babies who have Ebstein anomaly usually have bluish or gray skin color because of low levels of blood oxygen. Here are some tests often recommended by a doctor to confirm the diagnosis: 

  • Pulse oximetry- This test helps measure the oxygen amount in the blood.
  • Echocardiogram- This test involves sound waves to obtain the heart pictures. It helps in identifying the blood flow throughout the heart valves and the heart. 
  • Electrocardiogram (ECG or EKG)- This test involves determining the heartbeat and assisting the doctor in offering the right treatment solution. 
  • Holter monitor- With this test, the healthcare professional can identify and record the activity of a heart.
  • Chest X-ray- This test involves obtaining the heart, lungs, and blood vessels pictures that help in determining whether the heart is enlarged or not. 
  • Cardiac MRI- This test involves magnetic fields and radio waves that help in creating heart-detailed images. With this test, the doctor can identify the heart chamber size and the way it functions.
  • Exercise stress test- With this test, the doctor can determine how the heart of a patient is responding to the exercise. 
  • Electrophysiology study- This test helps in recording the heart’s electrical activity through electrical impulses and a catheter. 
  • Cardiac catheterization- This test assists in measuring the levels of oxygen and pressure in varied parts of the heart.

What are the options for Ebstein’s anomaly treatment?

Ebstein’s anomaly treatment completely relies on the complexity of the condition and the patient’s particular requirements. Here are the options of treatment often recommended to the patient:

  • Medications- This option can help the patient in managing symptoms and complexities related to the Ebstein anomaly. It often involves diuretics to mitigate fluid accumulation, anti-arrhythmia medicines that help in controlling arrhythmias, and blood thinners to avert blood clots. 
  • Surgery- In severe cases, surgical intervention might be required. The surgery type depends on the particular attributes of the heart defects and linked problems. Some of the commonly recommended surgical interventions involve tricuspid valve repair, tricuspid valve replacement, atrial septal defect closure, Fontan procedure, catheter-based procedures, and heart transplantation in serious cases.


Ebstein anomaly is among the conditions that can present considerable challenges, however, with advancements in medical field surgical procedure, quality of life can be achieved for this condition. Doctors recommend early diagnosis and comprehensive care by healthcare professionals to manage this condition. Make sure that you are well informed about this condition and seek the right medical care if diagnosed with Ebstein anomaly. You can live a fulfilling life and take advantage of every life opportunity you want with the right support and positive attitude. Always ensure working with your healthcare professional and you can easily manage this condition without any hassle.



Is Ebstein's anomaly a cyanotic heart disease?

Yes, Ebstein anomaly is a cyanotic heart disease due to low blood oxygen levels.

Is Ebstein's anomaly hereditary?

Most Ebstein anomaly cases are accidental mistakes while the baby is growing during pregnancy, but researchers have discovered certain genetic links with this condition.