What is Ebstein’s Anomaly?

Ebstein’s anomaly is a heart defect where the tricuspid valve, which separates the right upper and lower heart chambers, is deformed.1 The tricuspid valve is either malformed, misplaced, or both.2

For example:

The shape of the tricuspid valve’s flap may be deformed leading to one or more of the three leaflets (structures that make up the valve) getting stuck to the walls of the right ventricle or to the wall between the heart’s left and right ventricle.3,4 The tricuspid valve can also be lower than usual in the right lower heart chamber.3

Therefore, the malformed heart valve can not properly close, allowing blood to flow backward into the right atrium, also known as tricuspid valve regurgitation1.3,4 Because of this regurgitation, the right atrium may become enlarged because of the extra intake of blood1.4 Additionally, the increased pressure from higher blood volumes in the right atrium can lead to the foramen ovale remaining open, allowing for the mixing of oxygenated and deoxygenated blood between the right and left atria.5 In extreme cases, the right ventricle can become too small from lack of blood flow and can result in not enough blood being pumped to the lungs for reoxygenation.1

Ebstein’s anomaly is often seen with other heart defects, including pulmonary valve stenosis or atresia, atrial septal defects, or ventricular septal defects.5 In fact, up to 94% of patients with Ebstein’s Anomaly also have an atrial septal defect or a patent foramen ovale defect. An extra electrical conduction pathway may be apparent, also called supraventricular tachycardia, and is a condition called Wolff-Parkinson-White syndrome.

Abnormal tricuspid valve: the deformed valve allows blood to leak backward into the RA, causing the atrium to enlarge and the ventricle to be smaller. 

Open foramen ovale remaining open, allowing for the mixing of oxygenated and deoxygenated blood between the right and left ventricles

Symptoms:

Unlike most single-ventricle defects, Ebstein’s anomaly’s symptoms can range from unnoticeable to severe. Patients may have symptoms from birth or they may not develop symptoms until later in life. Symptoms can include:2

  • Blue coloring of the lips and nails (cyanosis)

  • Trouble breathing

  • Trouble feeding

  • Failure to grow

  • Coughing

  • Fatigue

  • Rapid breathing

  • Shortness of breath

  • Tachycardia or other arrhythmias

  • Decreased stamina

  • Swelling from fluid retention

  • Heart murmurs or clicking

  • Chest pain

  • Dizziness or fainting

Diagnosis:1-5

Echocardiogram (Echo)

Cardiac MRI

Exercise Stress Tests

Chest X-ray (CXR)

Electrocardiogram (EKG)

Pulse Oximetry

Cardiac Catheterization

Holter Monitor

Treatments

Treatment of Ebstein’s Anomaly varies based on the severity of the defect. Treatment can include regular check ups, medicines, or a procedure depending on the patient's needs.3 The goals of treatment are to prevent complications and reduce symptoms, such as arrhythmias and heart failure. Doctors may prescribe medicines to control the arrhythmias, prevent the buildup of fluid in the body, and prevent blood clots. In more severe cases, surgery is recommended to repair the tricuspid valve and remedy the tricuspid regurgitation. Procedures will repair or replace the tricuspid valve. In the tricuspid valve repair procedure, the surgeon will patch holes or tears in the valve flaps and remove extra tissue blocking the valve opening. Another valve repair, known as the cone procedure, separates the heart muscle from the tissue that should form the tricuspid valve. With that tissue, the surgeon will create a working tricuspid valve. A valve replacement is also possible, replacing the original valve with a biologic valve. The surgeon would likely close any ASDs as well.2,3 If arrhythmias are severe, the surgeon may perform a maze procedure or ablation, both using scar tissue to block the heart signals that cause the irregular heartbeats. In the most severe cases, heart transplantation may be necessary.2–4

Additional Resources

References

1. American Heart Association. Ebstein’s Anomaly. American Heart Association. September 15, 2023. Accessed January 18, 2025. https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ebsteins-anomaly 

2. Cleveland Clinic. Ebstein’s Anomaly (Adults). Cleveland Clinic. September 7, 2022. Accessed January 18, 2025. https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

3. Mayo Clinic Staff. Ebstein anomaly. Mayo Clinic. June 9, 2023. Accessed September 18, 2025. https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/symptoms-causes/syc-20352127#:~:text=Ebstein%20anomaly%20is%20a%20rare%20heart%20problem%20that's%20present%20at,is%20called%20the%20tricuspid%20valve.

4. Children’s Hospital of Philadelphia. Ebstein’s Anomaly of the Tricuspid Valve. Children’s Hospital of Philadelphia. Accessed January 18, 2025. https://www.google.com/url?q=https://www.chop.edu/conditions-diseases/ebstein-s-anomaly-tricuspid-valve&sa=D&source=editors&ust=1737258106456685&usg=AOvVaw20baziv9jr_TMDQPexaVuo

5. Cincinnati Children’s. Ebstein Anomaly. Cincinnati Children’s. May 2022. Accessed January 18, 2025. https://www.cincinnatichildrens.org/health/e/ebstein