Living with Ebstein anomaly
A rare heart defect in which the tricuspid valve is formed abnormally and leaks blood backward, with symptoms ranging from mild to very severe.
Understanding Ebstein anomaly
The tricuspid valve separates the right lower heart chamber from the right upper chamber. When it leaks, blood backs up, which can cause heart swelling and fluid in the lungs or liver. Sometimes not enough blood reaches the lungs, and the person may look blue. Symptoms range from mild to very severe and can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leaking tricuspid valve (regurgitation)
- Bluish skin (cyanosis)
- Irregular heartbeat or palpitations
- Chest pain
- Tiredness
- Hole between upper heart chambers (atrial septal defect)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MYH7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Adult Congenital Heart Association and Ebstein's Anomaly Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Adult Congenital Heart Association, Ebstein's Anomaly Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Adult Congenital Heart Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the MYH7 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: ebstein anomaly (disease); ebstein anomaly of the tricuspid valve; ebstein anomaly of tricuspid valve; ebstein malformation of the tricuspid valve; ebstein's anomaly; ebstein's anomaly (disorder) [ambiguous]
Patient organizations
- Adult Congenital Heart AssociationEbstein anomaly · United States
- Ebstein's Anomaly FoundationEbstein anomaly · United States
You are more than your diagnosis
Perspectives from people navigating life with Ebstein anomaly.
Explore research for Ebstein anomaly
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