Ebstein’s Anomaly is an exceedingly rare heart defect of the tricuspid valve. Normally, this valve controls blood flow from the right atrium that receives blood returning from the body to the right ventricle, the pumping chamber that pumps that blood to the lungs for oxygenation.
When Ebstein’s Anomaly occurs, the three leaflets that make up the tricuspid valve are malformed. Sometimes, two of the leaflets are displaced downward into the ventricle, while the third leaflet is larger than normal and sometimes abnormally attached to the wall of the ventricle, which is usually abnormally small. When this occurs, blood leaks backward from the ventricle to the atrium. This causes enlargement of the atrium and it can lead to congestive heart failure, a back up of blood flow that results in a fluid buildup in the lungs.
In addition, an opening in the septum between the two atria that occurs normally in the fetus, called the foramen ovale, fails to close in some newborns with Ebstein’s Anomaly because of the high volume of blood in the right atrium. This leads to a mixing of blue blood (without oxygen) from the right atrium with red blood (oxygenated) in the left atrium. This results in poor oxygen levels in blood that is circulated throughout the body.
Oftentimes, Ebstein’s anomaly occurs with other heart defects including atrial septal defect, ventricular septal defect and/or pulmonary stenosis.
What causes Ebstein’s Anomaly?
Ebstein’s Anomaly occurs during fetal development. Some congenital heart defects, including Ebstein’s Anomaly, may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Most of the time, this heart defect occurs sporadically (by chance), which no clear reason for its development.
What are the symptoms of Ebstein’s Anomaly?
Symptoms are usually noted shortly after birth. However in some cases they aren’t noted until later in childhood. This is because there is a wide spectrum of severity with this deformity. Therefore, symptoms can range from mild to severe. Newborns who are symptomatic from birth are usually critically ill, with low levels of oxygen saturation in the blood. These babies have a massive cardiac enlargement and immature, underdeveloped lungs.
Symptoms may come on more gradually for children who have a mild defect. The following are the most common symptoms of Ebstein’s Anomaly. However, each child may experience symptoms differently. Symptoms include:
- Blue color of the skin, lips and nailbeds. (cyanosis)
- Heart murmur or extra heart sounds
- Abnormal heart rhythms
- Fast breathing during rest or exercise
- Cough and congestion in the lungs
- Shortness of breath or labored breathing
- Fatigue
How is Ebstein’s Anomaly diagnosed?
A pediatric cardiologist and/or neonatologist may be involved with your child’s care. A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects as well as heart problems that may develop later in childhood. A neonatologist specializes in illnesses affecting newborns, both premature and full-term. Cyanosis is a major indication that there is a problem with your newborn. Your child’s physician may have also heard a heart murmur during a physical examination. Other diagnostic tests are needed to help with the diagnosis, and may include a Chest X-ray, Echocardiogram, or Electrocardiogram.
How is Ebstein’s Anomaly treated?
Most children with a more mild form of this condition can be managed with medication that serves to control congestive heart failure or abnormal heart rhythms. However, if the condition is severe, causing progressive arrhythmia or progressively lower levels of oxygen in the blood (cyanosis), surgery may be required.
Your child’s pediatric cardiologist will outline options for treatment with you. There are several surgical approaches to fixing Ebstein’s Anomaly, each depending on your child’s circumstance. Surgery may involve fixing or replacing the tricuspid valve and closing the foramen ovale.
A newborn with a severe defect requires emergent treatment. The baby will be placed in the neonatal intensive care unit and may require aggressive resuscitation and will be placed on a ventilator to assist his/her breathing. Intravenous (IV) medications may be given to help the heart and lungs function more efficiently. The surgical techniques used in these circumstances are done in stages and are similar to those used to treat single ventricle defects. The goal of surgery, in these instances, is to bypass the right ventricle and use one good ventricle, in this case the left one, to do the work that is normally done by both ventricles.
What is the long-term outlook for children treated for Ebstein’s Anomaly?
Due to variability in severity and presentation of Ebstein’s anomaly, the long-term outlook for these children also varies. In general, severe forms will present very early, at birth in some cases, and these patients represent the most severe form with the most guarded outlook.
In less severe forms, surgery to repair or replace the diseased valve is sometimes required. Also, depending on the patient, activity levels are sometimes reduced and/or restricted.
Source: Children’s Hospital Boston
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