Ebstein Anomaly—Child

(Ebstein Malformation—Child; Anomaly, Ebstein—Child; Malformation, Ebstein—Child)

Definition

Ebstein anomaly is a rare heart defect. It happens when the tricuspid valve forms lower than normal in the right ventricle. Also, the valve does not open and close as it should. This lets blood leak in the wrong direction.

Heart Chambers and Valves
heart anatomy

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Blood Flow Through the Heart

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Causes

This problem is present at birth. It is not known exactly why the heart does not form the right way.

Risk Factors

Risk factors are not clear. Some possible ones are:

  • Chromosomal abnormalities
  • Environmental exposure
  • Certain medicines taken by a pregnant mother, such as lithium

Symptoms

Problems can be mild to severe. Some children may not have symptoms. Those who do may have:

  • Blue or pale skin color
  • Rapid heart beat or skipped heart beats
  • Low energy
  • Shortness of breath
  • Chest pain

Diagnosis

The doctor will ask about your child’s symptoms and health history. A physical exam will be done.

Pictures may be taken of your child's chest. This can be done with:

An electrocardiogram may also be done to measure the electrical activity of the heart.

Treatment

The goal of treatment is to reduce symptoms. Choices are:

  • Surgery may be done right away to:
    • Fix or replace the tricuspid valve to reduce leaking
    • Destroy abnormal tissue to stop abnormal heart rhythms
  • Medicine to:
    • Help restore normal heart rhythms
    • Reduce fluid in the body
    • Improve the way the heart works

Lifelong monitoring by a heart specialist will be needed.

Prevention

There are no known guidelines to prevent this health problem.

RESOURCES:

Ebstein’s Anomaly Foundation
http://www.ebsteinsanomaly.org

National Organization of Rare Disorders
https://rarediseases.org

CANADIAN RESOURCES:

Canadian Cardiovascular Society
http://www.ccs.ca

Heart and Stroke Foundation of Canada
http://www.heartandstroke.ca

REFERENCES:

Baumgartner H, Bonhoeffer P, et al; Task Force on the Management of Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC), Association for European Paediatric Cardiology (AEPC), ESC Committee for Practice Guidelines (CPG). ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J. 2010 Dec;31(23):2915-2957.

Ebstein’s anomaly. American Heart Association website. Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Ebsteins-Anomaly_UCM_307025_Article.jsp. Accessed November 4, 2020.

Ebstein anomaly. Cincinnati Children’s Hospital website. Available at: http://www.cincinnatichildrens.org/health/e/ebstein. Accessed November 4, 2020.

Ebstein anomaly of the tricuspid valve. EBSCO DynaMed website. Available at:  https://www.dynamed.com/condition/ebstein-anomaly-of-the-tricuspid-valve. Accessed November 4, 2020.

Symptoms and diagnosis of congenital heart defects. American Heart Association website. Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/SymptomsDiagnosisofCongenitalHeartDefects/Symptoms-Diagnosis-of-Congenital-Heart-Defects_UCM_002029_Article.jsp. Accessed November 4, 2020.

7/14/2017 DynaMed Plus Literature Surveillance Update https://www.dynamed.com/condition/ebstein-anomaly-of-the-tricuspid-valve: Patorno E, Huybrechts KF, et al. Lithium use in pregnancy and the risk of cardiac malformations. N Engl J Med. 2017 Jun 8;376(23):2245-2254.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 11/4/2020