Ebstein Anomaly: Symptoms, Causes, and Treatment
Updated: 1 day ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Quick answer
Ebstein anomaly is a rare heart defect present at birth in which the tricuspid valve is malformed and positioned too low, letting blood leak backward through the right side of the heart. Symptoms include bluish lips, fatigue, rapid heartbeat and shortness of breath, though some have few for years. Treatment ranges from checkups and medicines to valve repair or replacement. [1] [2]
What the research says
According to PubMed:
Leaky valves and rhythm problems are common. A retrospective study of 79 children and young adults with Ebstein anomaly found tricuspid regurgitation in 75.9% (severe in 50%), arrhythmias in 30.4%, and Wolff-Parkinson-White syndrome in 12.7%; 31.6% had surgery. (Adıgüzel et al., DOI).
Catheter ablation works well but often needs repeating. In 76 patients, the first accessory pathway ablation succeeded in 89%, and 31% needed repeat procedures. One-year recurrence fell from 62% in the early era (1990 to 2004) to 19% in the recent era (2005 to 2019), and 93% of pathways were eventually eliminated. (El-Assaad et al., DOI).
Rhythm problems around cone repair are common. In a single-center review of 135 patients who had the da Silva cone repair, 53% had an arrhythmia before surgery and 64% had ablation during surgery; with the center's current electrophysiology approach, 7% had a follow-up arrhythmia. (Karolcik et al., DOI).
Cone repair keeps the valve working years later. In 12 patients who had heart MRI before and a median of about 5 years after cone reconstruction, the share of blood leaking back through the tricuspid valve fell from 69% to 10%, and the heart's pumping improved progressively over time. (Neijenhuis et al., DOI).
The heart reshapes after cone repair. In 257 patients who had cone reconstruction, valve leakage and right ventricle size decreased and left ventricle volume increased after surgery. (O'Leary et al., DOI).
Study details are from PubMed abstracts.
Key facts at a glance
Key fact | What to know |
What it is | A rare congenital heart defect of the tricuspid valve [1] |
What goes wrong | The valve forms too low and does not close, so blood leaks backward [1] |
Who has it | Present at birth; severity varies widely [1] |
Common symptoms | Bluish lips or nails, fatigue, fast or pounding heartbeat, shortness of breath [1] |
Cause | Unknown; genetics and environment likely play a role [1] |
Main complications | Irregular heartbeats, heart failure, sudden cardiac arrest, stroke [1] |
Treatment range | Regular checkups, medicines, or surgery depending on severity [2] |
What is Ebstein anomaly?
A typical heart has four chambers and four one-way valves. The two upper chambers, called the atria, receive incoming blood. The two lower, more muscular chambers, called the ventricles, pump blood out of the heart. Each valve has two or three thin flaps of tissue called leaflets or cusps that open and close to keep blood flowing in the right direction.
Ebstein anomaly is a rare heart condition present at birth, which makes it a congenital heart defect. The problem sits on the right side of the heart.
In this condition, the tricuspid valve, the valve between the top and bottom right chambers, does not form correctly. The valve also sits lower than usual inside the right lower chamber, and its flaps change shape. As a result, the valve does not close as it should.
Blood moves backward from the bottom chamber to the top chamber, a problem called tricuspid valve regurgitation. The heart must then work harder than normal. Over time, the heart can grow larger, and the condition can lead to heart failure.
Symptoms
Some babies born with Ebstein anomaly have few or no symptoms at all. Others have a tricuspid valve that leaks severely, and their symptoms are more noticeable. In some people, symptoms do not appear until later in life.
Symptoms of Ebstein anomaly may include:
Symptom | What it looks like |
Bluish or gray skin | Blue or gray lips or fingernails; depending on skin color, these color changes may be harder or easier to see [1] |
Fatigue | Feeling unusually tired [1] |
Palpitations | A feeling of a pounding or rapid heartbeat, or irregular heartbeats [1] |
Breathlessness | Shortness of breath, especially with activity [1] |
When to see a doctor
Serious heart conditions in a baby are often diagnosed at birth or during pregnancy.
Make a health appointment if you or your baby has symptoms of a possible heart condition. These include feeling short of breath or easily tired with little activity, irregular heartbeats, or changes in skin color. You may be sent to a doctor trained in heart diseases, called a cardiologist.
Conditions linked to Ebstein anomaly
Babies born with Ebstein anomaly may have other heart conditions along with it.
Holes in the heart. Many babies with Ebstein anomaly have a hole between the two upper chambers of the heart. This hole is called an atrial septal defect. Or there may be an opening called a patent foramen ovale, or PFO, which is a hole between the upper heart chambers that all babies have before birth. It usually closes after birth, but it can stay open in some people. A hole in the heart can lower the amount of oxygen in the blood.
Irregular heartbeats, called arrhythmias. An irregular heartbeat can include a fluttering, pounding, or racing heartbeat. Changes in the heartbeat can make it harder for the heart to work as it should.
Wolff-Parkinson-White (WPW) syndrome. In this condition, an extra signaling pathway between the heart's upper and lower chambers causes a fast heartbeat and fainting.
Causes and risk factors
Ebstein anomaly is a heart condition that a person is born with. The cause is not known. It develops as the baby, also called a fetus, grows in the womb during pregnancy.
Researchers are not sure exactly what increases the risk. Genetics and environmental factors are believed to be involved. Using some medicines during pregnancy, such as lithium, might increase the risk of Ebstein anomaly in the baby.
Complications
Possible complications of Ebstein anomaly include irregular heartbeats, heart failure, sudden cardiac arrest, and stroke.
Pregnancy and Ebstein anomaly
It may be possible to have a successful pregnancy with mild Ebstein anomaly. But pregnancy, labor, and delivery put extra strain on the heart. Rarely, extreme complications can develop that can cause serious health concerns in the mother or baby.
Before becoming pregnant, talk with your healthcare team about the possible risks and complications. Together you can plan for any special care needed during pregnancy.
How Ebstein anomaly is diagnosed
To diagnose Ebstein anomaly, a healthcare professional examines the baby and listens to the heart and lungs. A heart sound called a murmur may be heard. Several tests help confirm the diagnosis and show how serious the condition is:
Test | What it does |
Pulse oximetry | A sensor on a finger or toe measures the amount of oxygen in the blood |
Echocardiogram | Sound waves create pictures of the beating heart and show how blood flows through the heart and valves |
Electrocardiogram (ECG or EKG) | A simple test that checks the heartbeat using sticky patches on the chest, and sometimes the arms and legs |
Holter monitor | A portable ECG worn for a day or more to record heart activity during daily life |
Chest X-ray | A picture of the heart, lungs, and blood vessels that can show an enlarged heart |
Cardiac MRI | Magnetic fields and radio waves create detailed images of the tricuspid valve, heart chamber size, and how well the chambers work |
Exercise stress test | Walking on a treadmill or riding a stationary bike while the heart is checked to see how it reacts to exercise |
Electrophysiology study (EP study) | A thin tube is guided to the heart to record its electricity, locate what causes a fast or irregular heartbeat, and sometimes treat it |
Cardiac catheterization | A tube is guided to the heart through a blood vessel; dye makes the arteries show on X-ray, and pressures and oxygen levels can be measured |
Source: [2]
Treatment options
Treatment of Ebstein anomaly depends on how severe the condition is and on the symptoms. The goals are to reduce symptoms and prevent complications such as irregular heartbeats and heart failure. Treatment may include regular health checkups, medicines, or a heart procedure or surgery.
Regular health checkups
If Ebstein anomaly is not causing irregular heartbeats or other symptoms, regular health checkups may be all that is needed. Checkups are usually done at least once a year and typically include a physical exam and imaging tests to look at the heart.
Medications
If you have Ebstein anomaly, you may get medicine to control irregular heartbeats or other changes in the heartbeat, prevent fluid buildup in the body (too much fluid can be a sign of heart failure), and prevent blood clots, which may happen if the condition also occurs with a hole in the heart. Some babies are also given an inhaled substance called nitric oxide to help improve blood flow to the lungs.
Surgery or other procedures
Surgery is typically done if Ebstein anomaly causes severe tricuspid regurgitation with heart failure or increasing difficulty with exercise. Surgery may also be recommended if other symptoms, such as some irregular heartbeats, are very bad or affecting quality of life.
If surgery is needed, it is important to choose a surgeon who is familiar with Ebstein anomaly and has training and experience doing procedures to fix the condition.
Procedure | What it involves |
Tricuspid valve repair | Open-heart surgery fixes the damaged valve; holes or tears in the flaps may be patched and extra tissue removed. The cone procedure rebuilds the valve from the tissue that should have formed it. The valve may need repair again or replacement in the future. |
Tricuspid valve replacement | If the valve cannot be repaired, it is removed and replaced with a biologic valve made from cow, pig, or human heart tissue, done as open-heart or minimally invasive surgery. Mechanical valves are not often used. |
Closure of the atrial septal defect | Surgery fixes a hole between the upper chambers; other heart conditions may be repaired at the same time. |
Maze procedure | Small cuts in the upper chambers create a scar pattern that blocks the electrical signals causing irregular rhythms; heat or cold energy can also create the scars. Done during valve surgery when needed. |
Radiofrequency catheter ablation | Thin tubes guided to the heart use heat energy to damage a small area of heart tissue; the resulting scar blocks the signals that cause fast or irregular heartbeats. |
Heart transplant | May be needed if severe Ebstein anomaly is causing the heart to fail. |
Source: [2]
Self-care and staying safe with Ebstein anomaly
These tips can help manage Ebstein anomaly symptoms and improve comfort.
Get regular health checkups. Choose a heart doctor trained in treating heart conditions present at birth, called a congenital cardiologist. Tell your healthcare team if there are any new symptoms, or if symptoms get worse.
Take medicines as told. Taking the right dose at the right time may help ease symptoms such as racing heartbeats, fatigue, and shortness of breath.
Stay active. Be as physically active as possible. Exercise can help strengthen the heart and improve blood flow. Ask your healthcare team how much exercise is right for you or your child. Some people born with a heart condition may need to limit exercise or sports activities, but many others with a congenital heart defect can take part in such activities.
Create a helpful network. Living with a heart condition can make some people feel stressed or anxious. Talking to a therapist or counselor may be helpful.
Join a support group. Talking with other people who have experienced the same situation may bring comfort and encouragement. Ask your healthcare team whether support groups for this condition exist in your area.
Preparing for your appointment
You may be sent to a doctor trained in treating heart conditions, called a cardiologist. When you make the appointment, ask if there is anything you need to do ahead of time. For example, you may be told not to eat or drink for a while before certain tests.
Make a list of the symptoms, including any that may seem unrelated to Ebstein anomaly, and note when they started. Include important personal information such as a family history of heart conditions, and all medicines, vitamins, or other supplements with dosages. Also write down the questions you want to ask. If you are seeing a new healthcare professional, get a copy of your medical records and send them to the new office.
Questions to ask the healthcare professional include: What is the most likely cause of these symptoms? What tests are needed? What treatments are available, which do you recommend, and why? What are the side effects of treatment? Are there any diet or activity restrictions? Is there information you can take home, and what websites do you recommend?
Your healthcare professional is likely to ask whether the symptoms come and go or happen all the time, how severe they are, whether anything improves them, and what, if anything, makes them worse.
Conclusion and next steps
Ebstein anomaly is a rare congenital heart defect, but its effects span a wide range. Some people never notice it, while others need lifelong care from a heart team.
The most important step is an accurate diagnosis followed by a plan matched to the severity. If symptoms are mild, regular checkups may be all that is needed. If the valve leak is severe, medicines and modern surgical techniques can relieve symptoms and protect the heart.
Next steps: If you or your baby has symptoms such as unexplained fatigue, a pounding heartbeat, or bluish lips or fingernails, talk to a healthcare professional.
Frequently asked questions
What are the symptoms of Ebstein anomaly?
Symptoms can include blue or gray lips or fingernails, fatigue, a feeling of a pounding or rapid heartbeat or irregular heartbeats, and shortness of breath, especially with activity. Some people have few or no symptoms, and signs may not appear until later in life. [1]
What causes Ebstein anomaly?
Ebstein anomaly is present at birth, and the exact cause is not known. Researchers believe genetics and environmental factors are involved, and some medicines used during pregnancy, such as lithium, might increase the risk. [1]
Is Ebstein anomaly the same as a hole in the heart?
Not exactly, but the two often occur together. Ebstein anomaly is a problem with the tricuspid valve, while a hole between the upper chambers of the heart, called an atrial septal defect, is a separate condition that frequently accompanies it. [1]
What is the cone procedure for Ebstein anomaly?
The cone procedure is a type of tricuspid valve repair. The heart surgeon separates the heart muscle from the tissue that should have formed the tricuspid valve, then uses that tissue to create a working valve. [2]
Can you play sports with Ebstein anomaly?
It depends on the severity of the condition. Some people with a congenital heart defect need to limit exercise or sports, while many others can take part in such activities. Ask your healthcare team what level of activity is right for you or your child. [2]
This article is for general education and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare professional about your individual situation.
References
Mayo Clinic Staff. Ebstein anomaly - Symptoms and causes. Mayo Clinic. February 25, 2025. https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/symptoms-causes/syc-20352127
Mayo Clinic Staff. Ebstein anomaly - Diagnosis and treatment. Mayo Clinic. February 25, 2025. https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/diagnosis-treatment/drc-20352132
Adıgüzel A, Aypar E, Karagöz T, et al. Ebstein's anomaly in children and young adults: clinical features, arrhythmia, surgical management, and factors affecting arrhythmia and mortality. Cardiol Young. 2025;35(1):38-45. PMID 39789986. https://doi.org/10.1017/S1047951124025599
El-Assaad I, DeWitt ES, Mah DY, et al. Accessory pathway ablation in Ebstein anomaly: a challenging substrate. Heart Rhythm. 2021;18(11):1844-1851. PMID 34126268. https://doi.org/10.1016/j.hrthm.2021.06.1171
Karolcik BA, Follansbee CW, Stoll VK, et al. The electrophysiology experience in patients with Ebstein's anomaly undergoing the da Silva cone repair at UPMC Children's Hospital of Pittsburgh. J Cardiovasc Electrophysiol. 2026;37(7):1442-1449. PMID 42138586. https://doi.org/10.1111/jce.70330
Neijenhuis RML, Tsang VT, Marek J, et al. Cone reconstruction for Ebstein anomaly: late biventricular function and possible remodeling. J Thorac Cardiovasc Surg. 2021;161(3):1097-1108. PMID 33293067. https://doi.org/10.1016/j.jtcvs.2020.10.124
O'Leary PW, Qureshi MY, Cetta F, et al. Cone reconstruction for Ebstein anomaly: ventricular remodeling and preliminary impact of stem cell therapy. Mayo Clin Proc. 2021;96(12):3053-3061. PMID 34479739. https://doi.org/10.1016/j.mayocp.2021.02.015
Comments