Ebstein anomaly is a rare heart defect that’s present at birth (congenital). In Ebstein anomaly, your tricuspid valve — the valve between the two right heart chambers (right atrium and right ventricle) — doesn’t work properly. The tricuspid valve sits lower than normal in the right ventricle, and the tricuspid valve’s leaflets are abnormally formed.
Blood may leak back through the valve, making your heart work less efficiently. Ebstein anomaly may also lead to enlargement of the heart or heart failure.
If you have no signs or symptoms associated with Ebstein anomaly, careful monitoring of your heart may be all that’s necessary. If signs and symptoms bother you, or if the heart is enlarging or becoming weaker, treatment for Ebstein anomaly may be necessary. Treatment options include medications and surgery.
Mild forms of Ebstein anomaly may not cause symptoms until later in adulthood. If signs and symptoms are present, they may include:
- Shortness of breath, especially with exertion
- Heart palpitations or abnormal heart rhythms (arrhythmias)
- A bluish discoloration of the lips and skin caused by low oxygen (cyanosis)
Ebstein anomaly is a heart defect that you have at birth (congenital). Why it occurs is still unknown. To understand how Ebstein anomaly affects your heart, it helps to know a little about how the heart works to supply your body with blood.
How your heart works
Your heart is made up of four chambers. The two upper chambers (atria) receive blood. The two lower chambers (ventricles) pump blood.
Four valves open and close to let blood flow in one direction through the heart. Each valve consists of two or three strong, thin flaps (leaflets) of tissue. When closed, a valve prevents blood from flowing to the next chamber or from returning to the previous chamber.
Oxygen-poor blood returns from your body and flows into the right atrium. Blood then flows through the tricuspid valve and into the right ventricle, which pumps the blood to your lungs to receive oxygen. On the other side of your heart, oxygen-rich blood from your lungs flows into the left atrium, through the mitral valve and into the left ventricle, which then pumps the blood to the rest of your body.
What happens in Ebstein anomaly
In Ebstein anomaly, the tricuspid valve sits lower than normal in the right ventricle. This makes it so that a portion of the right ventricle becomes part of the right atrium (becomes atrialized), causing the right atrium to be larger than usual. Because of this, the right ventricle can’t work properly.
Also, the tricuspid valve’s leaflets are abnormally formed. This can lead to blood leaking backward into the right atrium (tricuspid valve regurgitation).
The placement of the valve and how poorly it’s formed may vary among people. Some people may have a mildly abnormal valve. Others may have a valve that is extremely displaced, and it may leak severely.
The more the tricuspid valve leaks, the more the right atrium enlarges as it receives more blood. At the same time, the right ventricle enlarges (dilates) as it tries to cope with the leaky valve and still deliver blood to the lungs. Thus, the right-sided chambers of the heart enlarge, and as they do, they weaken, which may lead to heart failure.
Other heart conditions associated with Ebstein anomaly
Several other heart conditions may be associated with Ebstein anomaly. A few common conditions include:
Holes in the heart. Many people with Ebstein anomaly have a hole between the two upper chambers of the heart called an atrial septal defect or a small flap-like opening called a patent foramen ovale (PFO). A PFO is a hole between the upper heart chambers that is present in all babies before birth but usually closes after birth, although it may remain open in some people without causing issues.
These holes may allow oxygen-poor blood in the right atrium to mix with oxygen-rich blood in the left atrium, decreasing the amount of oxygen available in your blood. This causes a bluish discoloration of the lips and skin (cyanosis).
Abnormal heartbeats (arrhythmias). Some people with Ebstein anomaly have an abnormal heart rhythm (arrhythmia) characterized by rapid heartbeats (tachycardia).
These types of arrhythmias can make your heart work less effectively, especially when the tricuspid valve is leaking severely. In some cases, a very fast heart rhythm may cause fainting spells (syncope).
Wolff-Parkinson-White (WPW) syndrome. Some people with Ebstein anomaly may also have a condition known as Wolff-Parkinson-White syndrome — an abnormal electrical pathway in the heart. The presence of WPW syndrome can lead to very fast heart rates and fainting spells.