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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

84.8th 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 checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

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=5449) is 41.

505 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

300 in the last 10 years · high confidence · 84.8th 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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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