Bebê deitado com a barriga para cima é examinado por uma médica com um estetoscópio.

Ebstein’s Anomaly: Understand the disease that can affect one in 10,000 babies | Drauzio Varella

Congenital heart defect, malformation of the heart is present from birth and affects one in 10,000 babies.

First discovered in 1866, Ebstein’s anomaly is a rare heart defect that is present at birth (congenital). In this condition, the tricuspid valve is in the wrong position, and the leaflets (heart valves) are malformed. As a result, the valve does not function properly.

The tricuspid valve is the heart valve located between the right atrium and the right ventricle, which has the function of preventing unoxygenated blood from returning its path, blocking the regular exchange of oxygen and carbon dioxide with the lungs.

“The valve is more displaced to the apical region than usual, usually presenting thicker leaflets”, explains Dr. Luciane Mattos Pereira, pediatric cardiologist.

As a result, blood can leak through the valve, causing the heart to work less efficiently, which causes heart enlargement and heart failure.

What happens in Ebstein’s anomaly

The word “anomaly” means “something different”. In Ebstein’s, this “something different” is the position of the tricuspid valve and the way its parts move. This causes a portion of the right ventricle to become part of the right atrium, which becomes larger than normal and does not function properly.

In addition, the tricuspid valve leaflets are abnormally shaped. Its location and malformation vary from person to person. Some patients may have a slightly abnormal valve, while others may have a severe leak.

See also: Congenital heart disease: what it is, diagnosis and treatment

who can have

The disease, which occurs in the early stages of a child’s life, has no clear causes, although it is speculated that genetic and environmental factors may play a role in its onset.

Although with unknown causes, the problem, according to Dr. Luciane, “may be related to the use of lithium during pregnancy, but without other relative factors”.

Know the pathologies that the problem can cause:

  • Interatrial communication (IC);
  • arrhythmias;
  • Wolff-Parkinson-White syndrome.


Ebstein’s anomaly can be seen in the ultrasound before the baby is born and is also identified as soon as the baby is born because his skin turns blue or his heart makes unusual sounds.

The best test to confirm the disease is a echocardiogram (heart ultrasound).

Other tests that can be done are:

  • one radiography chestwhich usually shows a very large heart;
  • a electrocardiogram (also known as ECG), for recording the electrical activity of the heart. The exam may show an abnormal heartbeat or signs that the right heart chambers are larger than normal.

Consequences of Ebstein’s Anomaly

Ebstein’s anomaly can cause problems that range from mild to very severe. Children with a mild form of this disorder may not have any symptoms until they are older. This is what the pediatric cardiologist explains: “As the anatomical variation is large, the clinical picture will also present a lot of variation, ranging from mild/moderate valve regurgitation (reflux) without many clinical symptoms, to cases in which the valve is not functional and makes it difficult for blood to pass through the pulmonary valve, and may even present pulmonary atresia (dheart disease)”.

Therefore, signs that a child may have Ebstein’s anomaly are difficulty breathing and a bluish tinge to the skin and under the nails (cyanosis).

The condition can cause a child to:

  • do not grow as expected;
  • get tired easily;
  • feel that you are often out of breath;
  • have a frequent cough;
  • have a fast heartbeat (palpitations);
  • have difficulty accompanying other children in physical activities.

In more severe cases, the child has swelling (edema) in the legs or fluid in the abdomen (ascites). Doctors also often hear abnormal heart sounds, such as a heart murmur.

Babies born with the disease often have other heart problems, such as a heart defect. atrial septum (an abnormal hole between the upper chambers of the heart) or a patent foramen ovale (an abnormal opening between the upper chambers of the heart that usually closes shortly after birth).

When one of these holes is open, oxygen-poor blood from the right side of the heart can flow to the left side of the heart and then to the rest of the body. This causes a low concentration of oxygen in the bloodstream, which is associated with the bluish color of the lips and under the nails.

In some children, the pulmonic valve (the other valve on the right side of the heart) may also be very narrow (known as pulmonic valve stenosis or pulmonary stenosis) or even closed completely (pulmonary atresia). These problems with the pulmonary valve also contribute to cyanosis (bluish tinge).

Ebstein’s anomaly, in many cases, affects the heart’s electrical system. Some children will also have an accessory electrical pathway called Wolff-Parkinson-White syndrome, which can cause a very fast (tachycardia) or irregular heartbeat.

See also: Heart murmur interview


Treatment is designed according to the severity of the anomaly, explains Dr. Luciane. “Talking about specific treatment depends a lot on how this anomaly is, because it has a very wide spectrum. It can be something light, as it can be a lot of other things,” she points out.

The good news is that treatment exists to reduce symptoms and prevent future complications, such as heart failure and arrhythmias. Therefore, the surgical procedure of choice will vary according to the clinic, the patient’s age and the anatomical shape.

The Brazilian doctor José Pedro da Silva is rworld-renowned for the ‘cone technique’, which extends the life of patients with Ebstein’s anomaly. “There is a restoration of this valve. It is possible to perform plasty of other valves in other ways, but this is the technique with the best result”, explains Dr. Luciane.

Newborns who have heart disease need early surgery to repair the tricuspid valve.

In adolescents and adults symptomatic of the anomaly, it is advisable to repair or replace the tricuspid valve with a prosthetic valve.

See also: Evolution of cardiovascular surgery

degrees of severity

There are different degrees of involvement of the tricuspid valve and the right ventricle (RV). Consequently, the clinical manifestations can be very variable, from very severe newborns to asymptomatic cases that reach adulthood without the need for treatment.

For this, it is important to consult a cardiologist to assess the patient’s clinical condition.

Can it be prevented?

It is not possible to prevent this disease. However, having good monitoring during pregnancy and being aware of risk factors can help to avoid complications.

Patient life expectancy

It is complex to talk about life expectancy, but even patients who are treated properly still maintain a reduced life expectancy. According to dr. Luciane, the complexity occurs due to the anatomical variation of the anomaly.

“This expectation cannot be defined very well because, if it is a mild anomaly, this valve will be repaired.” That is, it can be preserved and accompany the individual for the rest of his life, or it is still possible to put a prosthesis in place.

Patients who have a more complicated picture depend on the possibility of correction. “It may be that they end up becoming univentricular (single ventricle), and then the life expectancy is much shorter”, emphasizes the pediatric cardiologist.

See also: Heart disease

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