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Disease Profile
Ebstein’s anomaly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
All ages
ICD-10
Q22.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Ebstein's malformation; Ebstein anomaly
Categories
Congenital and Genetic Diseases; Heart Diseases
Summary
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]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Ebstein anomaly of the tricuspid valve | 0010316 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Imperforate tricuspid valve | 0011575 | |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
30%-79% of people have these symptoms | ||
Atrial fibrillation |
Quivering upper heart chambers resulting in irregular heartbeat
|
0005110 |
Chest pain | 0100749 | |
Patent ductus arteriosus | 0001643 | |
Right bundle branch block | 0011712 | |
5%-29% of people have these symptoms | ||
Abnormal endocardium morphology | 0004306 | |
Arterial thrombosis |
Blood clot in artery
|
0004420 |
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Sudden cardiac death |
Premature sudden cardiac death
|
0001645 |
Percent of people who have these symptoms is not available through HPO | ||
Atrial standstill | 0025478 | |
0000007 | ||
Ventricular preexcitation | 0004309 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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The major differential diagnosis, particularly during fetal life, is dysplasia of the leaflets of the tricuspid valve. This, as can Ebstein's malformation if associated with pulmonary atresia, can lead to gross thinning of the walls of the right ventricle which should not be confused with Uhl's anomaly (see this term). The severest forms of Ebstein's malformation can produce an imperforate tricuspid valve, which must be distinguished from tricuspid atresia (see this term).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Ebstein's Anomaly Foundation
2514 Flint Hill Road
Coopersburg, PA 18036
Telephone: 610-659-9870
E-mail: [email protected]
Website: https://www.ebsteinsanomaly.org/
Organizations Providing General Support
-
Adult Congenital Heart Association (ACHA)
280 North Providence Road, Suite 6
Media, PA 19063
Toll-free: 1-888-921-ACHA
Telephone: +1-215-849-1260
E-mail: [email protected]
Website: https://www.achaheart.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- 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.
- Genetics Home Reference (GHR) contains information on Ebstein's anomaly. This website is maintained by the National Library of Medicine.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
References
- Kaneshiro NK, Chen MA. Ebstein's anomaly. MedlinePlus. February 7, 2012; https://www.nlm.nih.gov/medlineplus/ency/article/007321.htm. Accessed 4/30/2014.