Ebstein’s Anomaly – Symptoms and Causes

Overview

Ebstein’s anomaly is a congenital heart defect. It affects the tricuspid valve between the right heart chambers. This rare condition prevents the valve from closing properly.

As a result, blood flows backward from the lower to upper chamber. This abnormal blood flow forces the heart to work harder than normal.

The heart may enlarge as it tries to compensate for this inefficiency. Without proper treatment, this condition can eventually progress to heart failure in some cases.

Signs and Symptoms

People born with Ebstein’s anomaly may experience different symptoms. Some have very mild symptoms, while others have more serious ones. In some cases, symptoms don’t appear until later in life.

Common symptoms include:

  • Blue or gray coloring in lips or fingernails (this may be harder or easier to see depending on skin tone)
  • Feeling tired or having low energy
  • Heart irregularities such as pounding, racing, or skipping beats
  • Breathing difficulty, particularly during physical activities
  • Swelling in the legs, ankles, or belly area
  • Dizziness or fainting
  • Heart murmur, which may be noticed during a doctor’s exam

When Medical Care Is Needed

Many serious heart conditions in babies are found during pregnancy or right after birth.

If you notice your baby showing signs of a heart problem, such as:

  • Breathing problems
  • Getting tired easily
  • Irregular heartbeats
  • Changes in skin color

It’s important to schedule an appointment with a healthcare provider. They may refer you to a heart specialist (cardiologist) who can evaluate the condition properly and recommend appropriate treatment.

Causes of This Heart Problem at Birth

The heart has four separate spaces or chambers. The top two chambers, atria, take in blood. The bottom two chambers, ventricles, push blood out to the body.

Blood moves through the heart in one direction thanks to four special doors called valves. Each valve has two or three thin, strong tissue flaps.

When a valve closes, it stops blood from flowing to the next chamber and prevents blood from going backward.

On the right side of the heart, the tricuspid valve sits between the upper and lower chambers. It controls blood flow between these areas.

Children born with this condition often have other heart problems:

  • Heart Openings: Many babies have a hole between the top chambers called an atrial septal defect. Some have a patent foramen ovale (PFO), which is a normal opening before birth that should close afterward but stays open. These holes can lower oxygen levels in the blood.

  • Abnormal Heart Rhythms: The heart may beat in an unusual pattern. This can include flutter, racing, and pounding sensations. These rhythm changes make it harder for the heart to work properly.

  • Wolff-Parkinson-White Syndrome: This problem creates an extra pathway for electrical signals between the upper and lower heart chambers. It causes a very fast heartbeat and fainting spells.

When someone has this heart condition, their tricuspid valve sits too low in the right lower heart chamber.

The valve flaps also have an unusual shape. This can let blood flow backward into the right upper chamber, a problem called tricuspid valve regurgitation.

Risk Factors

Ebstein anomaly develops during fetal growth in the womb. The exact causes remain unclear, but scientists believe both genetic and environmental factors play a role.

Certain medications taken during pregnancy may increase risk. For instance, lithium use by pregnant women has been linked to higher chances of the baby developing this heart condition.

Pregnancy with Heart Valve Issues

Women with mild heart valve abnormalities can often have successful pregnancies. However, pregnancy, labor, and delivery create additional stress on the heart.

In rare cases, serious complications may develop that affect both the mother and baby’s health. It’s important to consult with your healthcare team before becoming pregnant to discuss potential risks.

Heart-related complications may include irregular heartbeats, heart failure, sudden cardiac arrest, and stroke. Each of these requires careful management and monitoring by medical professionals.


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