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PubMed This is a summary of 70 peer-reviewed journal articles Updated
Cardiology · Ebstein Anomaly

Understanding Ebstein Anomaly: An Orientation for Families

At a Glance

Ebstein anomaly is a rare congenital heart defect where the tricuspid valve is abnormally formed and displaced downward, causing blood to leak backward. Severity varies widely, and while some genetic links exist, the exact cause is usually unknown.

Receiving a diagnosis of Ebstein anomaly can feel overwhelming, especially because it is such a rare condition. It is a congenital heart defect (a heart problem present at birth) that occurs in approximately 1 out of every 20,000 live births [1]. While the diagnosis is serious, it is important to know that it exists on a broad spectrum; some people are diagnosed as newborns with significant symptoms, while others live many decades without knowing they have it [2][3].

The Anatomy of Ebstein Anomaly

To understand this condition, it helps to look at the tricuspid valve, which sits between the right atrium (upper chamber) and the right ventricle (lower chamber). In a typical heart, this valve opens and closes to ensure blood flows in the right direction.

[Placeholder: A visual diagram comparing a typical heart to an Ebstein anomaly heart would be helpful here.]

In Ebstein anomaly, the valve does not form correctly during pregnancy due to a failure in delamination—the process where the valve leaflets should separate from the heart wall [4][5]. Instead:

  • Downward Displacement: The valve leaflets are attached lower down in the heart than normal, toward the bottom (apex) [6][7].
  • Atrialization: Because the valve is sitting too low, a portion of the right ventricle effectively becomes part of the right atrium. This “atrialized” section is often thin and does not pump well [8][9].
  • Valve Leakage: The displaced leaflets often don’t close properly, leading to tricuspid regurgitation (blood leaking backward into the upper chamber) [8][5].

Why Does It Happen?

The exact cause is often unknown, but researchers are uncovering the “genetic architecture” of the condition. It is genetically heterogeneous, meaning different genetic changes can cause the same heart defect [10].

  • Genetic Links: Mutations in genes like MYH7, NKX2-5, and LAMA3 have been linked to the condition [11][12][13].
  • Family History: Having a family history of heart defects can increase the risk [14].
  • Environmental Factors: While some older studies suggested a link to maternal lithium use, recent data shows this remains controversial and not definitively causal [15]. Other factors, such as exposure to second-hand smoke during pregnancy, may play a role [14].

It is important for parents to know that in the vast majority of cases, they did absolutely nothing to cause this condition. Finding out you or your child has a rare heart condition is an emotional experience. Because the disease is a “spectrum,” your medical team will use specialized imaging to grade the severity and plan the best path forward [16][17].

Navigating This Guide

To help you understand your diagnosis and care plan, we have created dedicated sections covering:

01

Recognizing Symptoms and Rhythm Changes

Learn to recognize Ebstein anomaly symptoms in infants and adults. Understand tricuspid regurgitation, Wolff-Parkinson-White (WPW) syndrome, and arrhythmias.

02

Diagnosis and Classification: Measuring the Heart

Learn how Ebstein anomaly is diagnosed. Understand your echocardiogram and cardiac MRI results, including Carpentier classification and Celermajer scores.

03

Treatment Strategy and the Cone Procedure

Learn about treatment options for Ebstein anomaly. Understand when surgery is needed, how the Cone procedure repairs the tricuspid valve, and rhythm management.

04

Life After Diagnosis: Monitoring and Well-Being

Learn about life after an Ebstein anomaly diagnosis. Understand long-term monitoring, Cone procedure recovery, exercise guidelines, and mental health support.

Common questions in this guide

What is Ebstein anomaly?
Ebstein anomaly is a rare congenital heart defect where the tricuspid valve does not form correctly during pregnancy. The valve is displaced downward into the heart, which often prevents it from closing properly and causes blood to leak backward.
Did something I did during pregnancy cause Ebstein anomaly?
In the vast majority of cases, parents did absolutely nothing to cause this condition. While some genetic links and family history play a role, the exact cause is often unknown.
What does 'atrialization' mean in my child's heart?
Because the tricuspid valve sits too low in the heart, a portion of the lower right pumping chamber essentially becomes part of the upper chamber. This area is called 'atrialized' because it is thin and does not pump blood effectively.
Should we consider genetic testing for Ebstein anomaly?
Your doctor may recommend genetic testing, especially if you have a family history of heart defects. Researchers have linked certain genetic mutations, such as changes in the MYH7 gene, to this specific heart condition.
What is the Celermajer index?
The Celermajer index is a grading system doctors use along with specialized imaging to measure the severity of the heart defect. This helps your medical team understand how the heart is functioning and plan the safest next steps.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on the imaging, what is the extent of tricuspid valve displacement and how does it affect my (or my child's) heart function?
  2. 2.What is the current Celermajer index or 'grade' of the anomaly, and what does that mean for our next steps?
  3. 3.Is there any evidence of an 'atrial septal defect' (a hole between the upper chambers) or other associated heart issues?
  4. 4.Has there been any screening for 'Wolff-Parkinson-White' (WPW) syndrome or other abnormal heart rhythms?
  5. 5.Should we consider genetic testing, particularly for the MYH7 gene, given the family history?
  6. 6.Is the heart currently able to pump enough oxygenated blood, or are there signs of 'cyanosis' (low oxygen)?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (17)
  1. 1

    Ventricular arrhythmias and sudden death in patients with Ebstein anomaly: insights from a retrospective cohort study.

    Waldmann V, Khairy P

    Journal of thoracic disease 2018; (10(Suppl 18)):S2172-S2175 doi:10.21037/jtd.2018.06.74.

    PMID: 30123552
  2. 2

    Ebstein's Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care.

    Ramcharan TKW, Goff DA, Greenleaf CE, et al.

    Pediatric cardiology 2022; (43(7)):1409-1428 doi:10.1007/s00246-022-02908-x.

    PMID: 35460366
  3. 3

    The Congenital Tricuspid Valve Spectrum: From Ebstein to Dysplasia.

    Stephens EH, Dearani JA, Qureshi MY, et al.

    World journal for pediatric & congenital heart surgery 2020; (11(6)):783-791 doi:10.1177/2150135120949235.

    PMID: 33164686
  4. 4

    Ebstein Anomaly in the Adult Patient.

    Fuchs MM, Connolly HM

    Cardiology clinics 2020; (38(3)):353-363 doi:10.1016/j.ccl.2020.04.004.

    PMID: 32622490
  5. 5

    Preoperative Physiology, Imaging, and Management of Ebstein's Anomaly of the Tricuspid Valve.

    Morray B

    Seminars in cardiothoracic and vascular anesthesia 2016; (20(1)):74-81 doi:10.1177/1089253215616499.

    PMID: 26620137
  6. 6

    Electro-vectorcardiographic and electrophysiological aspects of Ebstein's anomaly.

    Pérez-Riera AR, Barbosa-Barros R, Daminello-Raimundo R, et al.

    Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2019; (24(3)):e12590 doi:10.1111/anec.12590.

    PMID: 30106198
  7. 7

    Displacement of all three leaflets of tricuspid valve: A rare variant of Ebstein anomaly.

    Khajali Z, Rezaeian N, Ansari Z

    Clinical case reports 2022; (10(3)):e05555 doi:10.1002/ccr3.5555.

    PMID: 35280103
  8. 8

    Anaesthetic management of emergency lower segment caesarean section in a patient with Ebstein's anomaly.

    Gite JV, Gangakhedkar GR, Nadkarni M

    Indian journal of anaesthesia 2018; (62(11)):915-916 doi:10.4103/ija.IJA_426_18.

    PMID: 30532336
  9. 9

    Unraveling septal perfusion abnormalities in Ebstein's anomaly: A case report contrasting PET MPI with myocardial reality.

    Alibazoglu H, Khalil AM, Alibazoglu D, et al.

    Radiology case reports 2025; (20(8)):3970-3976 doi:10.1016/j.radcr.2025.04.105.

    PMID: 40496081
  10. 10

    Molecular Pathways and Animal Models of Ebstein's Anomaly.

    Jensen B, Andelfinger GU, Postma AV

    Advances in experimental medicine and biology 2024; (1441()):915-928 doi:10.1007/978-3-031-44087-8_58.

    PMID: 38884760
  11. 11

    MYH7 variants cause complex congenital heart disease.

    Ritter A, Leonard J, Gray C, et al.

    American journal of medical genetics. Part A 2022; (188(9)):2772-2776 doi:10.1002/ajmg.a.62766.

    PMID: 35491958
  12. 12

    Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.

    Zhou Z, Huang X, Tang X, et al.

    HGG advances 2023; (4(4)):100227 doi:10.1016/j.xhgg.2023.100227.

    PMID: 37635785
  13. 13

    Lithium-induced Ebstein's Anomaly.

    Gupta V, Mishra P, Mirdha P, Patil A

    Heart views : the official journal of the Gulf Heart Association 2024; (25(4)):267-269 doi:10.4103/heartviews.heartviews_72_24.

    PMID: 40488156
  14. 14

    Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011.

    Downing KF, Riehle-Colarusso T, Gilboa SM, et al.

    Cardiology in the young 2019; (29(6)):819-827 doi:10.1017/S1047951119000970.

    PMID: 31159903
  15. 15

    Epidemiology studies on effects of lithium salts in pregnancy are confounded by the inability to control for other potentially teratogenic factors.

    Smith CJ, Payne VM

    Human & experimental toxicology 2024; (43()):9603271241236346 doi:10.1177/09603271241236346.

    PMID: 38394684
  16. 16

    Severity Scores for Ebstein Anomaly: Credibility and Usefulness of Echocardiographic vs Magnetic Resonance Assessments of the Celermajer Index.

    Cieplucha A, Trojnarska O, Bartczak-Rutkowska A, et al.

    The Canadian journal of cardiology 2019; (35(12)):1834-1841 doi:10.1016/j.cjca.2019.08.003.

    PMID: 31711824
  17. 17

    Epidemiological, clinical, and echocardiographic features, and outcome of dogs with Ebstein's anomaly: 32 cases (2002-2016).

    Chetboul V, Poissonnier C, Bomassi E, et al.

    Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology 2020; (29()):11-21 doi:10.1016/j.jvc.2020.03.003.

    PMID: 32348933

This page provides an educational overview of Ebstein anomaly. Always consult a pediatric cardiologist or your healthcare provider to understand your specific diagnosis, symptom management, and care plan.

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