What is Ebstein’s anomaly?
Ebstein’s anomaly is a rare heart defect in which parts of the tricuspid valve are irregular. The tricuspid valve separates the lower right heart chamber (right ventricle) from the upper right heart chamber (right atrium). In Ebstein’s anomaly, the position of the tricuspid valve and how it works to separate the two chambers is abnormal.
The disorder is congenital, which means it is present at birth.
Causes of Ebstein’s anomaly
The tricuspid valve usually consists of three parts, called leaflets or flaps. The leaflets open to allow blood to change from the right atrium (upper chamber) to the right ventricle (lower chamber) while the heart relaxes. They are closed to prevent blood from moving from the right ventricle to the right atrium while the heart pumps.
In people with Ebstein’s anomaly, the leaflets are placed deeper into the right ventricle rather than the normal position. The brochures are usually larger than normal. The defect often causes the valve to malfunction, and blood can leak out. Instead of flowing into the lungs, the blood returns to the right atrium. The backup of blood flow can lead to an enlarged heart and accumulation of fluid in the body. There may also be a narrowing of the valve that leads to the lungs (pulmonary valve).
In many cases, people also have a hole in the wall that separates the two upper chambers of the heart (atrial septal defect), and blood flow through this hole can cause oxygen-poor blood to go to the body. This can cause cyanosis, a blue shade to the skin caused by oxygen-poor blood.
Ebstein’s anomaly occurs when the baby develops in the womb. The exact cause is unknown. The use of certain medications (such as lithium or benzodiazepines) during pregnancy can play a role. The condition is rare. It is more common in white people.
Signs and symptoms of Ebstein’s anomaly
The most common sign of Ebstein’s anomaly in newborns and infants is a blue discoloration of the skin, lips, or nails (cyanosis). In some severe cases, the baby may have trouble breathing.
Older children may have the following symptoms:
- Rapid breathing or shortness of breath
- Slow growth
- Racing heartbeat
Diagnosis of Ebstein’s anomaly
A chest X-ray will be taken to judge the size of the heart, which may be quite enlarged. The diagnosis of Ebstein’s anomaly is often suspected because of the large size of the heart on the chest X-ray.
An echocardiogram is used to definitively diagnose Ebstein’s anomaly and identify any accompanying heart defects. This test allows the pediatric cardiologist to determine the degree of valve displacement, the severity of the valve leak (insufficiency) or valve narrowing (stenosis), the size of the heart chambers, and whether there is a patent foramen ovale. (open).
An electrocardiogram (ECG) records your heart rhythm. If the child has complained of a racing heart and the answer is not found in this initial test, they can go home with a recorder that is used to try to capture episodes of tachycardia (rapid heart rate). Your child may also have a stress test to better assess his heart function during activity. Some patients with abnormal heart rhythms may require additional electrophysiological testing to better identify and potentially treat their heart rhythm problems.
Invasive diagnostic tests are not performed as frequently today as in the past due to the availability of better non-invasive techniques such as echocardiograms and MRI. However, some patients with Ebstein’s anomaly may require cardiac catheterization to fully define their cardiac anatomy and function.
Treatment for Ebstein’s anomaly
Ebstein’s anomaly has the utmost variation in severity among all congenital heart defects. Some babies with the defect do not survive pregnancy, while other people live normal lives and never need treatment.
As an adult with mild Ebstein malformation, you may not need any treatment for years. If you have an arrhythmia, you may be treated with medicine to control your heart rate and rhythm. Depending on the severity of the arrhythmia, you may need non-surgical treatment, such as radiofrequency ablation, to correct the heart rhythm. If you grow heart failure, you may need other medications, such as a diuretic.
However, the course of Ebstein’s anomaly is unpredictable and the condition could worsen to the point where your symptoms are bothersome or your heart could enlarge, causing decreased heart function. In any of these situations, surgical treatment may be necessary.
Type of surgery is cast-off to treat Ebstein’s anomaly?
Ebstein’s anomaly is a rare heart defect, particularly in adults, so if you need surgery, you will want to choose a surgeon who is experienced in treating adults with this specific condition. The most likely place to find a cardiac surgeon with this type of experience will be in a large academic medical center.
There are several surgical procedures that are used to treat Ebstein’s anomaly:
Tricuspid valve repair or replacement
The goal of this surgery is to repair the faulty valve between the right atrium and the right ventricle so that the leaflets open and close properly.
When enough tissue is present, the valve can be repaired. This is the preferred treatment because it uses its own tissue. When the existing valve cannot be repaired, it is possible to replace it with a mechanical valve or one made from biological tissue. If you receive a mechanical valve replacement, you will need to take blood-thinning medications for the rest of your life.
Atrial communication repair
Many people with Ebstein’s anomaly have a hole in the septum (the tissue between the upper chambers of the heart [the atria]). This hole will be surgically closed at the same time as the valve repair is performed.
Arrhythmia surgery (maze procedure)
Depending on the type of arrhythmia you have, you may have labyrinth surgery in combination with valve surgery. During maze surgery, the surgeon creates new electrical pathways in the heart that restore normal heart rhythm.
In the most severe cases, when the valve is severely deformed, heart function is poor, and other treatments are not effective, a heart transplant may be the best treatment option.
In a recently published study of patients ages 4 to 58 who underwent surgery for Ebstein’s anomaly, survival, and cardiac function were very good 10 years later.
Mild Ebstein’s anomaly may not cause complications.
However, the possible complications of Ebstein’s anomaly include:
- Heart failure
- Sudden cardiac arrest
Taking some precautions before playing sports or getting pregnant can help prevent complications.
If your heart size is near normal and you have no heart rhythm disturbances, you can probably participate in most physical activities. Depending on your signs and symptoms, your doctor may recommend that you avoid certain competitive sports, such as soccer or basketball.
If you are planning to have a baby, talk to your doctor. Many women with mild Ebstein’s anomaly can safely have children. But pregnancy, labor, and delivery put extra pressure on your heart. In rare cases, serious complications can develop that can cause the death of the mother or the baby. Together, you and your doctor can decide how much control you need during pregnancy and delivery. In some cases, other treatments for your condition or symptoms may be recommended before you get pregnant.