Ebstein's Anomaly: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Ebstein's Anomaly?
Ebstein's anomaly is usually treated by a cardiologist, a heart doctor. Children see a pediatric cardiologist, a heart doctor for children. A cardiac surgeon, a heart surgeon, may be involved if surgery is needed. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Ebstein's anomaly?
Ebstein's anomaly is a rare heart defect. Parts of the tricuspid valve are abnormal. This valve separates the right lower heart chamber (right ventricle) from the right upper heart chamber (right atrium).
The condition is congenital, which means it is present at birth. The valve sits deeper in the right ventricle than normal, and it often works poorly. Blood can flow backward into the right atrium. This backup can lead to heart enlargement and fluid buildup in the body.
Many people also have a hole in the wall between the two upper chambers. This is called an atrial septal defect. Blood flow across the hole can send oxygen-poor blood to the body. This can cause cyanosis, a blue tint to the skin.
Symptoms
The defect can be slight or very severe, so symptoms range from mild to very severe. In many mild cases, a person has no symptoms for many years, sometimes even permanently.
Symptoms can start soon after birth. They can include bluish lips and nails from low blood oxygen. In severe cases, the baby looks very sick and has trouble breathing.
Older children may have:
- Cough.
- Failure to grow.
- Tiredness.
- Rapid breathing.
- Shortness of breath.
- A very fast heartbeat.
About 5% to 25% of people with Ebstein's anomaly also have Wolff-Parkinson-White (WPW) syndrome. WPW causes heart palpitations, dizziness, and chest tightness.
Some people get worse over time. They may develop heart failure, heart block, or dangerous heart rhythms. Other possible problems include blood clots that travel from the heart to other parts of the body, and brain abscess. In general, the earlier symptoms start, the more severe the disease.
Causes and who gets it
Ebstein's anomaly forms while a baby develops in the womb. The exact cause is unknown. Using certain drugs during pregnancy, such as lithium or benzodiazepines, may play a role. The condition is rare. It is more common in white people.
There is no known way to prevent it. If you take medicines that may be linked to this condition, talk with your provider before a pregnancy.
How doctors diagnose it
A provider may hear abnormal heart sounds, such as a murmur, when listening to the chest with a stethoscope. Tests that can help diagnose the condition include:
- Chest x-ray.
- MRI of the heart.
- Electrocardiogram (ECG), which measures the heart's electrical activity.
- Echocardiogram, an ultrasound of the heart.
Treatment
Treatment depends on how severe the defect is and which symptoms a person has. Medical care may include:
- Medicines to help with heart failure, such as diuretics.
- Oxygen and other breathing support.
- Surgery to correct the valve.
- Replacement of the tricuspid valve. This may be needed for children who keep getting worse or who have more serious complications.
People with congenital heart defects need regular follow-up care from a cardiologist throughout life, even if the defect was repaired. Taking antibiotics before dental surgery may help prevent endocarditis. Ask your cardiologist whether this applies to you.
When to see a doctor
Contact your provider if your child has symptoms of this condition.
Call 911 or go to the emergency room if a child has bluish or gray skin or trouble breathing. Also call for chest pain or discomfort lasting two minutes or more, or fainting or loss of consciousness.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. This kind of doctor can review symptoms, arrange a referral to a heart specialist, and help keep track of checkups and test results. They can also help you stay on top of medicines between specialist visits.
Common questions
Is Ebstein's anomaly present at birth?
Yes. Ebstein's anomaly is congenital, which means it is present at birth. It forms while a baby develops in the womb.
Does Ebstein's anomaly always cause symptoms?
No. In mild cases, a person may have no symptoms for many years, sometimes even permanently. In other people, symptoms start soon after birth.
Can Ebstein's anomaly be prevented?
No. There is no known prevention. If you take medicines that may be linked to the condition, talk with your provider before a pregnancy.
Does Ebstein's anomaly need surgery?
It depends. Treatment depends on how severe the defect is and which symptoms a person has. Medical care may include medicines, oxygen, and surgery to correct or replace the valve.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
