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Genetic and Rare Diseases Information Center (GARD)

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Ebstein's anomaly


Other Names for this Disease

  • Ebstein anomaly
  • Ebstein's malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The  backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery.[1]
Last updated: 4/30/2014

References

  1. Kaneshiro NK, Chen MA. Ebstein's anomaly. MedlinePlus. February 7, 2012; http://www.nlm.nih.gov/medlineplus/ency/article/007321.htm. Accessed 4/30/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Ebstein's anomaly. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Ebstein's anomaly. This website is maintained by the National Library of Medicine.
  • The MayoClinic.com provides information about Ebstein's anomaly. Click on the above link to access this information.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ebstein's anomaly. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ebstein anomaly
  • Ebstein's malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.