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ORPHA:1880

Ebstein malformation of the tricuspid valve

high confidenceDisorder

Also known as: Ebstein anomaly of the tricuspid valve

Publications

5,293

90.9th percentile

Trials

1

Interventional, condition-specific

Researchers

1,016

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

Ebstein anomaly · Ebstein anomaly (disease) · Ebstein's anomaly · Ebstein's anomaly (disorder) [ambiguous] · Ebstein's anomaly of tricuspid valve

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,293 matched papers (2,315 in last 10 years) Source

  3. Phenotype characterisedPresent

    35 HPO annotations (e.g. Atrial septal defect; Abnormal cardiovascular system morphology; Cyanosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

35

Associated phenotypes · MONDO:0009144

  • Atrial septal defect
  • Abnormal cardiovascular system morphology
  • Cyanosis
  • Patent ductus arteriosus
  • Palpitations

Showing 5 of 35 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

5 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Digoxin · therapeutic
  • Ethinyl Estradiol · marker/mechanism
  • Lithium · marker/mechanism
  • Lithium Carbonate · marker/mechanism
  • Norethindrone · marker/mechanism

MyDisease.info · MONDO:0009144

Literature

Is anyone studying this?

5,293

5,293 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,293 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,315 in the last 10 years · high confidence · 90.9th percentile (publications denominator)

Phrase hits: 5,293 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,016

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Da Fonseca Da Silva L5 papers · 2026

    Division of Pediatric Cardiothoracic Surgery, Department of Cardiothoracic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa. Electronic address: dafonsecadasilval@upmc.edu.

    Papers in Europe PMC
  2. 02
    da Silva JP5 papers · 2026

    Division of Pediatric Cardiothoracic Surgery, Department of Cardiothoracic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa.

    Papers in Europe PMC
  3. 03
    Konstantinov IE5 papers · 2026

    Department of Cardiothoracic Surgery, Royal Children's Hospital, University of Melbourne, Murdoch Children's Research Institute, Melbourne Centre for Cardiovascular Genomics and Regenerative Medicine, Melbourne, Victoria, Australia; National Scientific Medical Center, Astana, Kazakhstan. Electronic address: igor.konstantinov@rch.org.au.

    Papers in Europe PMC
  4. 04
    Chessa M4 papers · 2026

    Pediatric and Congenital Heart Disease Unit, IRCCS Policlinico San Donato, San Donato Milanese, Italy.

    Papers in Europe PMC
  5. 05
    Dearani JA4 papers · 2026

    Department of Cardiovascular Surgery, Mayo Clinic Rochester, Rochester, MN, USA.

    Papers in Europe PMC
  6. 06
    Giamberti A4 papers · 2026

    Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, San Donato Milanese, Italy.

    Papers in Europe PMC
  7. 07
    Tworetzky W4 papers · 2026

    Department of Pediatrics, Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  8. 08
    van der Velde ME4 papers · 2024

    Department of Pediatrics, Division of Cardiology, C.S. Mott Children's Hospital, University of Michigan Medical School, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  9. 09
    Asirvatham SJ3 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  10. 10
    Connolly HM3 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Ebstein malformation of the tricuspid valve — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Ebstein malformation of the tricuspid valve" OR "Ebstein malformation of tricuspid valve" OR "Ebstein anomaly of the tricuspid valve" OR "Ebstein anomaly of tricuspid valve" OR "Ebstein anomaly" OR "Ebstein anomaly (disease)" OR "Ebstein's anomaly" OR "Ebstein's anomaly (disorder) [ambiguous]" OR "Ebstein's anomaly of tricuspid valve" OR "Ebstein's anomaly of the tricuspid valve"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Ebstein malformation of the tricuspid valve" OR "Ebstein malformation of tricuspid valve" OR "Ebstein anomaly of the tricuspid valve" OR "Ebstein anomaly of tricuspid valve" OR "Ebstein anomaly" OR "Ebstein anomaly (disease)" OR "Ebstein's anomaly" OR "Ebstein's anomaly (disorder) [ambiguous]" OR "Ebstein's anomaly of tricuspid valve" OR "Ebstein's anomaly of the tricuspid valve"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:22:16.168Z