Description, Causes and Risk Factors:
Ebstein anomaly is a rare cardiac anomaly that is seen in 1 in 210,000 live births. The primary underlying abnormality is failure of adequate delamination of the tricuspid valve (TV) lea?ets from the endocardium of the right ventricle. This results in the features that are characteristic of EA, which include apical displacement of the lea?ets, particularly the septal lea?et, atrialization of portions of the right ventricle, tricuspid regurgitation (TR), and right ventricular dysfunction. Depending on the degree of delamination and dysplasia of the TV, there are in?nite degrees of anatomic severity that can be expressed. Age of patients at clinical presentation can also be quite variable depending on the anatomic severity of the anomaly.
Currently, the exact cause of Ebstein anomaly is not known. Heredity likely plays a role in the development of all heart defects, meaning that if someone had a congenital heart defect, he or she has an increased chance of having a child with a heart defect. Ebstein anomaly is also more common in children whose mothers took lithium during pregnancy.
If you have Ebstein anomaly, the flaps on the tricuspid valve are abnormally shaped, too large or adhered to the heart wall so they cannot move. It's not unusual for two of the valve flaps to be down in the ventricle where they don't belong. As a result of these abnormalities, the valve cannot open and close correctly, and blood can leak backwards into the atrium.
The misplaced valve flaps in the ventricle cause a section of the ventricle to become part of the right atrium. This creates an oversized right atrium and also causes the right ventricle to expand as it pumps harder and harder to push the blood to the lungs. Over time, the enlarged right side of the heart weakens and heart failure develops.
Children with Ebstein anomaly may have a rapid heart rhythm called supraventricular tachycardia
(SVT) often as a result of a condition called Wolf-Parkinson-White syndrome (WPW). An episode of SVT may cause palpitations. Sometimes this is associated with fainting, dizziness, lightheadedness or chest discomfort. Infants may be unusually fussy or have other symptoms that can't easily be connected with rapid heart rhythm. If you child has had these symptoms, contact your doctor. If your symptoms persist, seek immediate attention. Recurrent SVT may be prevented with medicines. In many cases, the source of the abnormal heart rhythm may be removed by a catheter procedure called radiofrequency ablation.
If the valve abnormality is especially severe, you may have decreased stamina, fatigue, cyanosis, and sometimes fluid retention. Infants may not feed or grow normally. The symptoms may respond to medicines such as diuretics. In some instances surgery (described above) may be recommended.
In adults, the most common symptoms include shortness of breath, occasional chest pain, getting winded easily during exercise and heart rhythm disturbances (arrhythmia).
When the defect is severe, it is usually diagnosed at birth or in the first months of life. The infant's skin may have a bluish tint, which can be the first sign of the defect, along with early symptoms of heart failure. When symptoms appear this early in life, the defect is usually severe and immediate treatment is required.
When Ebstein anomaly is diagnosed in adulthood, the defect is often less severe and the symptoms are less dramatic. Sometimes, Ebstein anomaly is mild in childhood but worsens over time and symptoms develop.
If you are an adult with Ebstein anomaly, you should have regular appointments with a cardiologist who specializes in adult congenital heart defects. The doctor will use an electrocardiogram, chest X-rays, echocardiograms and other tests to monitor your heart's size, pumping ability and rhythm.
Many children with Ebstein anomaly will have no symptoms, so no treatment will be necessary. If the valve is leaking or is narrowed, symptoms will make treatment necessary. Children may first be treated with drugs such as digoxin to strengthen the heart muscle's effectiveness and diuretics to remove excess fluid from the body and reduce the load on the heart.
As an adult with a mild Ebstein anomaly, you may not need any treatment for years. If you have an arrhythmia, you may be treated with medication to control your heart rate and rhythm. Depending on the severity of the arrhythmia, you may need nonsurgical treatment such as radiofrequency ablation to fix your heart rhythm. If you develop heart failure, you may need other medications, such as a diuretic.
Ebstein's anomaly has the greatest variation in severity among all congenital heart defects. Some infants with the defect do not survive gestation, while other individuals live a normal life span and never need treatment.
Surgery is sometimes necessary either to repair or to replace the tricuspid heart valve so that blood flows readily to the lungs to receive oxygen. There are several surgical procedures used to treat Ebstein anomaly:
Repair or replacement of the tricuspid valve:
The goal of this surgery is to fix the defective valve between the right atrium and the right ventricle so that the leaflets open and close correctly. When there is enough tissue present, the valve can be repaired. This is the preferred treatment because it uses your own tissue. When the existing valve cannot be repaired, it is possible to replace it with a mechanical valve or one made of biologic tissue. If you receive a mechanical valve replacement, you will need to take blood-thinning medication for the rest of your life.
Atrial septal defect repair: Many people with Ebstein anomaly have a hole in the septum (the tissue between the heart's upper chambers [the atria]). This hole will be closed surgically at the same time the valve repair is performed.
Arrhythmia surgery (maze procedure): Depending on the type of arrhythmia you have, you may undergo maze surgery in combination with valve surgery. During maze surgery, the surgeon creates new electrical pathways in the heart that restore the normal heart rhythm.
Heart transplant: In the most severe cases, when the valve is seriously deformed, heart function is poor and other treatments are not effective, a heart transplant may be the best treatment option.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.