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ORPHA:99045

Double outlet right ventricle with subpulmonary ventricular septal defect

high confidenceSubtype of disorder

Also known as: DORV-TGA · Double outlet right ventricle with transposition of the great arteries · Taussig-Bing syndrome · DORV with subpulmonary VSD

Publications

505

75.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,429

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    505 matched papers (300 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 5 for broader category double outlet right ventricle

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

505

505 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

505 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).

300 in the last 10 years · high confidence · 75.7th percentile (publications denominator)

Phrase hits: 505 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,429

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    He Y6 papers · 2025

    Echocardiography Medical Center, Maternal-Fetal Medicine Center in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.

    Papers in Europe PMC
  2. 02
    Browne ML5 papers · 2026

    Birth Defects Registry, New York State Department of Health, Albany, New York, USA.

    Papers in Europe PMC
  3. 03
    Del Nido PJ4 papers · 2024

    Department of Cardiac Surgery, Boston Children's Hospital, Boston, Mass.

    Papers in Europe PMC
  4. 04
    Ewert P4 papers · 2025

    Department of Congenital Heart Disease and Paediatric Cardiology, German Heart Centre Munich, Technical University Munich, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Fisher SC4 papers · 2024

    Birth Defects Registry, New York State Department of Health, Albany, New York, USA.

    Papers in Europe PMC
  6. 06
    Kaemmerer H4 papers · 2025

    Deutsches Herzzentrum München, Klinik für Angeborene Herzfehler und Kinderkardiologie, München, Technische Universität München, 80636 Munich, Germany.

    Papers in Europe PMC
  7. 07
    Romitti PA4 papers · 2026

    From the Congenital Malformations Registry, New York State Department of Health, Albany (S.C.F., A.R.V.Z., C.M.D., M.L.B.); Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, NY (A.R.V.Z., C.M.D., M.L.B.); Department of Epidemiology, School of Public Health, Boston University, MA (M.M.W.); Genetics Unit, MassGeneral Hospital for Children, Boston, MA (A.E.L.); Massachusetts Department of Public Health, Massachusetts Center for Birth Defects Prevention, Boston (A.E.L.); and Department of Epidemiology, College of Public Health, University of Iowa, Iowa City (P.A.R.).

    Papers in Europe PMC
  8. 08
    Yang Y4 papers · 2026

    Department of Ultrasound, Tongji Medical College, Union Hospital, University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  9. 09
    Blom NA3 papers · 2024

    Division of Pediatric Cardiology, Department of Pediatrics (R.L.F.v.d.P., N.A.B.), Leiden University Medical Center, the Netherlands.

    Papers in Europe PMC
  10. 10
    Bonnet D3 papers · 2025

    Department of Congenital and Pediatric Cardiology, Centre de Référence Malformations Cardiaques Congénitales Complexes, Hôpital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 5 trials are registered for double outlet right ventricle, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

5 interventional trials matched double outlet right ventricle, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: double outlet right ventricle

5

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-30

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 Double outlet right ventricle with subpulmonary ventricular septal defect — 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.

"Double outlet right ventricle with subpulmonary ventricular septal defect" OR "DORV-TGA" OR "Double outlet right ventricle with transposition of the great arteries" OR "Double outlet right ventricle with transposition of great arteries" OR "Taussig-Bing syndrome" OR "DORV with subpulmonary VSD"

Run this search on Europe PMC

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

"Double outlet right ventricle with subpulmonary ventricular septal defect" OR "DORV-TGA" OR "Double outlet right ventricle with transposition of the great arteries" OR "Double outlet right ventricle with transposition of great arteries" OR "Taussig-Bing syndrome" OR "DORV with subpulmonary VSD"

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

Parent-category trials query:

"double outlet right ventricle"

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 2026-07-27T05:54:53.898Z