Ebstein’s Anomaly

Ebstein’s anomaly is not common. This rare congenital heart disease is present at birth. The anomaly is also termed Ebstein’s malfunction. In this condition, tricuspid valve parts are not normal. The purpose of the value is to separate the two ventricles. Heart of people suffering from Ebstein’s disease has abnormal positioning of tricuspid and an unusual functioning of separation between two chambers.

The tricuspid valve comprises three small-sized leaflets. The purpose of these flaps is to open for blood flow from the right atrium to the right ventricle. The flaps close to ensure proper blood flow and avoid backward flow. 

If a person suffers from Ebstein’s anomaly, the leaflets are not shaped correctly. For example, the size is too large, or they are attached to the heart wall in such a manner that they cannot move. In addition, the two valves are positioned downwards in the right ventricle where they are not needed. Consequently, these leaflets don’t open or close correctly, leading to a backward leakage into the atrium.

The displaced flaps adjoin the ventricle to the right atrium. As a result, an oversized right atrium is created. The blood is pumped out from it to the lung with pressure. With time the oversized atrium becomes weak and causes heart problems.

Causes Of Ebstein’s Anomaly

One out of every 20,000 newborns suffers from this rare heart condition. A lone gene defect doesn’t cause Ebstein’s anomaly. The candidate genes linked to this condition include GATA4 NKX2.5. One of the causes includes the consumption of lithium-containing drugs during pregnancy.

Ebstein’s malformation constitutes around 0.3 to 0.6% of the total heart conditions that are congenital. The percentage of babies suffering from Ebstein’s condition is 6% in women’s offspring compared to 0.6% in men’s offspring.

Ebstein’s Malformation Symptoms

The severity of systems depends upon the intensity of the defect. If the severity of the defect is high, the symptoms appear after birth or within the first few months. The infant’s skin becomes bluish, which is an early symptom in addition to other symptoms of heart failure. Newborns showing the symptoms of Ebstein’s anomaly need urgent treatment to avoid fatalities.

If this heart disorder is diagnosed in adults, the severity is usually low, and the symptoms are less rigorous. In some cases, the disease is less severe in childhood but gets worse over time, and symptoms start appearing. The common symptoms that appear in adults suffering from Ebstein’s include the following:

● Shortness of breath 

● Chest pain that occurs occasionally

● Arrhythmia (Disturbed heart rhythm)

● Fatigue and tiredness

● Discolored bluish lips due to low oxygen levels 

Adults suffering from this disorder must visit their cardiologists frequently and monitor their stats.

Prognosis & Diagnosis

The mortality rate for different grades for this disease is mentioned as follows:

● For Grade 1, the mortality rate is 0%

● For Grade 2 patients, the rate is 10%

● For patients belonging to Grade 3, the rate of mortality of 4%

● For Grade 4 patients, the mortality rate is 100%

The diagnosis for mild Ebstein’s anomaly is difficult as it has no symptoms. However, it can be diagnosed via physical examination. For adults suffering from a severe heart disorder, the symptoms include rhythmic disturbances or shortness of breath, especially during exercise. For newborns, the symptoms include bluish lips or heart failure symptoms.

Several tests, such as chest X-rays, echocardiograms, etc., are conducted to confirm the diagnosis of Ebstein’s malfunction.


Ebstein’s anomaly is a rare disease among newborns and adults. If the severity is high, a surgical procedure is required to treat it. You must approach an experienced heart surgeon to perform the surgery to ensure that the treatment is successful. Take out some time to inspect the reputation of the hospital where surgery is scheduled and the success rate of the doctor as well.

The surgeries that are performed to treat this condition are listed as follows: 

Replacing/Repairing the Tricuspid Valve

This procedure aims to repair the faulty valve present between the ventricle and right atrium. As a result, the flaps function correctly and prevent backward leakage of blood.

The valve is repaired using the tissue of the patient. This surgery is possible in cases where enough tissue is present in the patient’s heart. If this is not the case, the defective valve can be replaced with a mechanical valve or a valve made with biological tissues. If you have received a mechanical valve as a replacement, you need to take blood-thinning medicines to avoid risks.

Atrial Septal Defect Repairment

Sometimes, the Ebstein anomaly patients have a cavity in the septum. The septum is a tissue that separates the chambers of the heart. The hole is closed through surgical procedures, and a valve repair is also performed to treat this condition.

Arrhythmia Surgery Using Maze Procedures

Valve and maze surgeries are performed simultaneously. The plan for surgery depends upon the severity and other details related to your condition. In this surgery, new pathways are created that result electrically in the restoration of the rhythm of the heart to a normal rate.

Heart Transplant

If the condition of Ebstein’s anomaly patient is severe and other surgical options cannot be availed, then a heart transplant is performed. A transplant is needed when the heart is functioning poorly or the valve is severely deformed.

According to studies, a heart transplant has been proven to be successful in patients aged between 4 and 58. In addition, Ebstein’s disorder patients treated with a transplant turned out to be survivors, and their hearts were functioning well even after ten years.

Risks & Complications

Disorders such as Ebstein’s malfunction occur when the baby’s heart develops during pregnancy. Doctors are not certain what risk factors are associated with this condition. However, genetic and environmental factors contribute to causing this disorder and taking medications containing lithium while the child is in the womb.

The complications possibly caused due to this disorder include:

● Stroke

● Heart failure 

● Instant cardiac arrest

Our doctor considers the severity of the patient’s condition and recommends safety measures accordingly. Get your doctor’s opinion before starting a family. 

Women with mild symptoms can give birth without any risk factors involved. However, if the severity is medium or high, complications can arise, causing the death of the mother or baby. Your doctor decides whether they need to monitor your condition throughout pregnancy or need any treatments before getting pregnant to avoid complications.

Conditions Associated with Ebstein’s Disorder

Some heart conditions linked to Ebstein’s anomaly are mentioned below:

Holes in Heart

Some people suffering from the Ebstein malfunction have a cavity in between the upper right and left atria. Consequently, the oxygen supply in blood declines, causing blue skin and lips.

Abnormality in Heartbeat

If the rhythm of your heart is not normal or your heartbeats are rapid, it makes the working of the heart difficult. This becomes severe if the leakage is critical. It can also result in syncope.

WPW (Wolff-Parkinson-White) Syndrome

People suffering from this disorder have abnormalities in the electric pathway of the heart, causing faster heart rates and fainting.