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Ebstein's Anomaly

09/07/2023 Conditions

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Overview

Ebstein’s anomaly is a congenital heart defect in which the tricuspid valve, located between the upper and lower chambers on the right side of the heart (right atrium and right ventricle), forms abnormally, causing it to not close properly. In Ebstein’s anomaly this happens because the valve forms too far down in the heart, causing the upper chamber (right atrium) to be larger than normal and the lower chamber (right ventricle) to be smaller than normal.  

These abnormalities can require the right side of the heart to work harder than normal. In severe cases, the baby may be at risk of heart failure. Surgery may be needed after birth.

Ebstein’s anomaly can sometimes occur along with other heart defects, such as an atrial septal defect (a hole in the wall between the upper chambers of the heart), pulmonary valve stenosis (an abnormality with blockage across the valve leading to the lungs), and an abnormal heartbeat (arrhythmia).

What happens in Ebstein’s anomaly?

The tricuspid valve is made up of three flaps or “leaflets.” In a normal heart, the leaflets open to allow blood that is low in oxygen coming back from the body to flow from the upper chamber (right atrium) down to the lower pumping chamber (right ventricle) and subsequently to the lungs to pick up oxygen. When the right ventricle pumps the blood out to the lungs, the tricuspid valve closes, preventing blood from flowing backwards back into the right atrium.

In a baby with Ebstein’s anomaly, the tricuspid valve leaflets do not form correctly and some leaflets are abnormally “plastered” or attached to the wall of the heart, preventing the valve from closing properly. This allows blood to flow backward into the upper chamber instead of forward out to the lungs (known as tricuspid valve regurgitation).

The extra blood in the right atrium can cause it to enlarge. The abnormally small right ventricle may weaken as it works harder to try and pump enough blood to the lungs. A lack of oxygen in the blood may cause a blue tint to the baby’s skin, lips and nails (known as cyanosis). If left untreated, in some cases fluid may build up in the baby’s body (fetal non-immune hydrops) and heart failure can occur.

Cause

Ebstein’s anomaly is a congenital heart defect, meaning it is present at birth. The condition occurs early in pregnancy when the fetal heart does not form properly.

Ebstein’s anomaly has been associated with exposure to certain medications during pregnancy (such as lithium), but in most cases the cause is unknown.

Symptoms

Newborns with Ebstein’s anomaly may show signs of the condition within the first few days or weeks after birth. However, in mild cases, children with Ebstein’s anomaly may not have symptoms until adulthood.

While the signs and symptoms may vary for each baby, they can include:

  • Heart murmur
  • Bluish skin, lips or nails (cyanosis)
  • Difficulty breathing
  • Abnormal heart rhythm (arrhythmia)
  • Cough
  • Poor weight gain
  • Generalized fatigue
  • Sweating
  • Swelling in the legs and belly

Diagnosis

Ebstein’s anomaly may be detected during a routine prenatal ultrasound. Additional testing, including fetal echocardiography, is typically needed to confirm the diagnosis and learn more about the defect. A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the specialized treatment and expertise required by the baby at birth, optimizing outcomes.

In other cases, the condition may not be diagnosed until after the baby is born. The doctor may detect a heart murmur, an abnormal sound caused by blood flow problems in the heart. Testing may include an electrocardiogram (ECG or EKG), an echocardiogram, a chest X-ray, and cardiac catheterization.

Specialized Evaluation and Care

If Ebstein’s anomaly is suspected or diagnosed during pregnancy, prompt referral to a fetal cardiac center is important for further evaluation and to ensure proper delivery and treatment planning.

At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible for a comprehensive assessment by a team of specialists experienced in working together to diagnose and treat congenital heart defects. Your healthcare team may include maternal-fetal medicine physicians (OB/GYNs specializing in high-risk pregnancies), fetal and pediatric cardiologists, fetal imaging experts, genetic counselors, congenital heart surgeons and neonatologists.

In addition to collecting any previous diagnostic tests, additional testing may include:

Our specialists will then meet with you about the results, provide treatment recommendations, and answer any questions your family has to help you make the most informed decisions regarding your baby’s care and treatment.

During pregnancy, mother and baby will be closely monitored for early detection of complications, including fetal non-immune hydrops (fluid accumulation in multiple areas of the baby’s body) and fetal heart failure, which in some cases may require an early delivery.

Delivery

For the best possible outcomes, delivery should take place at a center with the highest quality congenital heart program, ensuring the expertise and resources required to treat Ebstein’s anomaly at birth, including an advanced neonatal intensive care unit (NICU), if needed.

Delivery and postnatal care should be carefully planned and coordinated. Our Fetal Center team works closely with Texas Children’s Heart Center, seamlessly transitioning your baby’s care at delivery to this national leader in pediatric cardiology and heart surgery. Here, the pediatric heart specialists treating your newborn have been an integral part of their care team since before birth.

Following delivery at Texas Children’s Pavilion for Women, newborns with Ebstein’s anomaly are transferred to Texas Children’s level IV NICU, the highest level of care available for premature and critically ill newborns, or Texas Children’s specialized cardiac intensive care unit (CICU). 

Treatment after Birth

The type and timing of treatment after birth depends on the severity of the tricuspid valve problem and the baby’s symptoms.

In mild cases, treatment may not be required but the child will need to be followed by a pediatric cardiologist. In severe cases, medications may be needed and in some cases surgery to either fix the valve or to allow the heart to bypass this valve and get blood to the lungs and the body without having to use this valve.

In general, treatment strategies for Ebstein’s anomaly include:

  • Regular monitoring for signs the heart is enlarging or weakening
  • Oxygen/breathing support
  • Medications
  • Surgery to repair or replace the tricuspid valve; in rare cases a series of surgical procedures may also be needed if the right ventricle is too small to support the baby’s needs.
  • Heart transplant may be considered in rare cases

Additional surgeries may be needed for any other abnormalities present.

Postnatal Care Team

Depending on your baby’s defect and symptoms, his or her postnatal care team may include:

Babies born with Ebstein’s anomaly require lifelong care by a cardiologist.

At Texas Children’s Heart Center, our pediatric cardiologists will follow your child through adolescence, seamlessly transitioning their care at adulthood to a cardiologist who specializes in the treatment of adults with congenital heart defects. 

Why Texas Children’s Fetal Center?

  • A single location for expert maternal, fetal and pediatric care. Texas Children’s offers mothers and babies the specialized care required for the diagnosis and treatment of congenital heart conditions all in one location, for highly coordinated care and treatment planning.
  • A skilled, experienced team with proven outcomes. We have a dedicated team of maternal-fetal medicine specialists, fetal imaging experts, fetal and pediatric cardiologists, congenital heart surgeons, neonatologists and others who work in concert to care for you and your baby every step of the way, using proven protocols we’ve developed over the years. With their combined expertise and unified approach, this team offers the best possible care for pregnancies involving Ebstein’s anomaly.
  • We care for your child’s cardiac needs at every stage of life, from fetus to adulthood. Our comprehensive approach starts with your first prenatal visit and continues through delivery, postnatal care, childhood and adulthood, thanks to one of the nation’s leading teams of fetal, pediatric and adult congenital heart specialists.

Texas Children’s – #1 in the Nation for Pediatric Cardiology and Heart Surgery

Our Fetal Cardiology Program is a collaboration between Texas Children’s Fetal Center and Texas Children’s Heart Center, ranked #1 in the nation for pediatric cardiology and heart surgery by U.S. News & World Report, with outcomes among the best in the country.

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Additional Resources

Research and Clinical Trials

Texas Children’s, together with our partner institution Baylor College of Medicine, constantly strives to seek new and better treatments for babies with congenital heart defects.

For more information, please contact the Cardiovascular Clinical Research Core at 832-826-2064 or email sandrea@texaschildrens.org.

Learn more about our fetal cardiology research.

 

For more information or to schedule an appointment,

call Texas Children’s Fetal Center at 832-822-2229 or 1-877-FetalRx (338-2579) toll-free.

Our phones are answered 24/7. Immediate appointments are often available.