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Ebstein anomaly

Ebstein's anomaly; Ebstein's malformation; Congenital heart defect - Ebstein; Birth defect heart - Ebstein; Cyanotic heart disease - Ebstein

Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The tricuspid valve separates the right lower heart chamber (right ventricle) from the right upper heart chamber (right atrium). In Ebstein anomaly, the positioning of the tricuspid valve and how it functions to separate the two chambers is abnormal.

The condition is congenital, which means it is present at birth.

Causes

The tricuspid valve is normally made of three parts, called leaflets or flaps. The leaflets open to allow blood to move from the right atrium (top chamber) to the right ventricle (bottom chamber) while the heart relaxes. They close to prevent blood from moving from the right ventricle to the right atrium while the heart pumps.

In people with Ebstein anomaly, the leaflets are placed deeper into the right ventricle instead of the normal position. The leaflets are often larger than normal. The defect most often causes the valve to work poorly, and blood may go the wrong way. Instead of flowing out to the lungs, the blood flows back into the right atrium. The backup of blood flow can lead to heart enlargement and fluid buildup in the body. There may also be narrowing of the valve that leads to the lungs (pulmonary valve).

In many cases, people also have a hole in the wall separating the heart's two upper chambers (atrial septal defect) and blood flow across this hole may cause oxygen-poor blood to go to the body. This can cause cyanosis, a blue tint to the skin caused by oxygen-poor blood.

Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people.

Symptoms

The abnormality can be slight or very severe. Therefore, the symptoms can also range from mild to very severe. Symptoms can develop soon after birth, and can include bluish-colored lips and nails due to low blood oxygen levels. In severe cases, the baby appears very sick and has trouble breathing. In mild cases, the affected person may be asymptomatic for many years, sometimes even permanently.

Symptoms in older children may include:

  • Cough
  • Failure to grow
  • Fatigue
  • Rapid breathing
  • Shortness of breath
  • Very fast heartbeat

Exams and Tests

Newborns who have a severe leakage across the tricuspid valve will have a very low level of oxygen in their blood and significant heart enlargement. The health care provider may hear abnormal heart sounds, such as a murmur, when listening to the chest with a stethoscope.

Tests that can help diagnose this condition include:

  • Chest x-ray
  • Magnetic resonance imaging (MRI) of the heart
  • Measurement of the electrical activity of the heart (ECG)
  • Ultrasound of the heart (echocardiogram)

Treatment

Treatment depends on the severity of the defect and the specific symptoms. Medical care may include:

  • Medicines to help with heart failure, such as diuretics.
  • Oxygen and other breathing support.
  • Surgery to correct the valve.
  • Replacement of the tricuspid valve. This may be needed for children who continue to worsen or who have more serious complications.

Outlook (Prognosis)

In general, the earlier symptoms develop, the more severe the disease.

Some people may have either no symptoms or very mild symptoms. Others may worsen over time, developing blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms.

Possible Complications

A severe leakage can lead to swelling of the heart and liver, and congestive heart failure.

Other complications may include:

  • Abnormal heart rhythms (arrhythmias), including abnormally fast rhythms (tachyarrhythmias) and abnormally slow rhythms (bradyarrhythmias and heart block)
  • Blood clots from the heart to other parts of the body
  • Brain abscess

When to Contact a Medical Professional

Call your provider if your child develops symptoms of this condition. Get medical attention right away if breathing problems occur.

Prevention

There is no known prevention, other than talking with your provider before a pregnancy if you are taking medicines that are thought to be related to developing this disease. You may be able to prevent some of the complications of the disease. For example, taking antibiotics before dental surgery may help prevent endocarditis.

References

Bhatt AB, Foster E, Kuehl K, et al. Congenital heart disease in the older adult: a scientific statement from the American Heart Association. Circulation. 2015;131(21):1884-1931. PMID: 25896865  pubmed.ncbi.nlm.nih.gov/25896865/.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Cyanotic congenital heart lesions: lesions associated with decreased pulmonary blood flow. In: Kliegman RM, St.Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 457.

Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019;139:e698-e800. PMID: 30121239 pubmed.ncbi.nlm.nih.gov/30121239/.

Webb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease in the adult and pediatric patient. In: Zipes DP, Libby P, Bonow RO, Mann DL, Tomaselli GF, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 11th ed. Philadelphia, PA: Elsevier; 2019:chap 75.

  • Congenital heart defects (CHD) overview

    Animation

  •  

    Congenital heart defects (CHD) overview - Animation

    Congenital heart disease describes defects of the heart or its vessels that are present at birth. They are the most common types of birth defect, affecting 1 out of every 120 babies. Some heart defects are severe, but many are not, ranging from simple defects with no symptoms, to complex defects with severe life-threatening symptoms. Each year, more than 35,000 babies in the United States are born with congenital heart defects. Most are simple defects that are easily corrected or do not need treatment. However, a small number of babies are born with complex heart defects and require special medical attention soon after birth. Over the past few decades, the diagnosis and treatment of these complex defects has greatly improved. Thanks to new and effective treatments, almost all children with complex heart defects grow to adulthood and can live active, productive lives. Most of these patients will nonetheless continue to need special heart care throughout their lives. Living with a congenital heart disease can also impact health insurance, employment, pregnancy, contraception, and the risk of infection during routine health procedures. Today, approximately 1 million American adults are living with congenital heart defects.

  • Ebstein's anomaly

    Ebstein's anomaly - illustration

    Ebstein's anomaly is a congenital heart condition which results in an abnormality of the tricuspid valve. In this condition the tricuspid valve is elongated and displaced downward towards the right ventricle. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium.

    Ebstein's anomaly

    illustration

  • Congenital heart defects (CHD) overview

    Animation

  •  

    Congenital heart defects (CHD) overview - Animation

    Congenital heart disease describes defects of the heart or its vessels that are present at birth. They are the most common types of birth defect, affecting 1 out of every 120 babies. Some heart defects are severe, but many are not, ranging from simple defects with no symptoms, to complex defects with severe life-threatening symptoms. Each year, more than 35,000 babies in the United States are born with congenital heart defects. Most are simple defects that are easily corrected or do not need treatment. However, a small number of babies are born with complex heart defects and require special medical attention soon after birth. Over the past few decades, the diagnosis and treatment of these complex defects has greatly improved. Thanks to new and effective treatments, almost all children with complex heart defects grow to adulthood and can live active, productive lives. Most of these patients will nonetheless continue to need special heart care throughout their lives. Living with a congenital heart disease can also impact health insurance, employment, pregnancy, contraception, and the risk of infection during routine health procedures. Today, approximately 1 million American adults are living with congenital heart defects.

  • Ebstein's anomaly

    Ebstein's anomaly - illustration

    Ebstein's anomaly is a congenital heart condition which results in an abnormality of the tricuspid valve. In this condition the tricuspid valve is elongated and displaced downward towards the right ventricle. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium.

    Ebstein's anomaly

    illustration

 

Review Date: 1/27/2020

Reviewed By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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