An Ebstein's anomaly is a congenital heart defect that affects the tricuspid valve, the valve that separates the right atrium from the right ventricle. In people with Ebstein's anomaly, the tricuspid valve is malformed and misplaced, causing blood to leak back into the right atrium. Symptoms include enlargement of the right side of the heart, low oxygen levels in the blood, and failure of the heart.
The exact cause of Ebstein’s anomaly is unknown, but it is present at birth. It may be related to genetic factors, environmental factors, or a combination of both. Some possible risk factors include:
Having a family history of congenital heart defects.
Having a mother who took certain medications, such as lithium, during pregnancy.
Having a mother who had an infection, such as rubella, during pregnancy.
The symptoms of Ebstein’s anomaly vary depending on the severity of the defect and the presence of other heart problems. Some people have no symptoms or mild symptoms, while others may have severe symptoms that appear shortly after birth or later in life. The following symptoms are common:
Blue or gray skin color, especially around the lips and nails (cyanosis).
Fatigue and weakness.
Shortness of breath, especially with exertion or lying down.
Swelling of the legs, abdomen, or face (edema).
Irregular or rapid heartbeat (arrhythmia).
Chest pain or discomfort.
Fainting or dizziness.
Ebstein’s anomaly can be diagnosed before or after birth using various tests and imaging techniques. Some of the tests that can help diagnose Ebstein’s anomaly are:
Fetal echocardiogram: This is an ultrasound of the baby’s heart that can detect structural abnormalities and blood flow problems before birth.
Electrocardiogram (ECG): This is a test that measures the electrical activity of the heart and can detect arrhythmias and enlarged heart chambers.
Chest X-ray: This is an image of the chest that can show the size and shape of the heart and lungs.
Echocardiogram: This is an ultrasound of the heart that can show the structure and function of the heart valves and chambers, as well as the blood flow and pressure in the heart.
In cardiac catheterization, a thin tube (catheter) is inserted into a blood vessel and guided to the heart. The doctor can then measure the pressure and oxygen levels in the heart chambers, and inject a dye to see the blood flow and the shape of the heart valves.
The treatment of Ebstein’s anomaly depends on the severity of the defect, the age of the person, and the presence of other heart problems. Some of the possible treatment options are:
The use of medication can help control the symptoms of Ebstein's anomaly, such as arrhythmias, edema, and heart failure. These medications include beta blockers, diuretics, antiarrhythmics, and anticoagulants.
The tricuspid valve may need to be repaired or replaced, any holes in the heart may need to be closed, or other heart defects may need to be corrected with surgery. Depending on the individual case and the doctor's recommendation, there are various types of surgery that can be performed, including valve repair, valve replacement, cone procedures, and heart transplants.
Using catheters to deliver devices or substances to the heart is a less invasive alternative to surgery. There are a number of procedures that can be performed, including atrial septal defect closure, radiofrequency ablation, and device implantation.
There is no known way to prevent Ebstein’s anomaly, but some steps can be taken to reduce the risk of complications and improve the quality of life of people with this condition. Some of the preventive measures include:
Getting regular check-ups and follow-ups with a cardiologist.
Taking medications as prescribed and following the doctor’s instructions.
Avoiding smoking, alcohol, caffeine, and illicit drugs.
Eating a healthy diet and maintaining a healthy weight.
Getting enough exercise and physical activity, as advised by the doctor.
Managing stress and emotional well-being.
Seeking support from family, friends, or support groups.
