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ORPHA:216694

Congenitally corrected transposition of the great arteries

low confidenceDisorder

Also known as: Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections · Double discordance

Publications

2,656

Trials

3

Interventional, condition-specific

Researchers

1,137

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare cardiac characterized by the combination of discordant atrioventricular (AV) and ventriculo-arterial (VA) connections so that the morphologically right atrium connects to the morphologically left ventricle, the morphologically left atrium connects to the morphologically right ventricle, the morphologically right ventricle connects to the aorta, and the morphologically left ventricle connects to the pulmonary trunk. It is usually accompanied by other cardiovascular malformations which determine the clinical picture.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

L-transposition of the great arteries · L-transposition of the great vessels · congenitally corrected transposition of the great vessels · discordant ventriculoarterial and atrioventricular connections · levo-transposition of the great arteries · levo-transposition of the great vessels · ventricular inversion · ventriculoarterial and atrioventricular discordance

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.”

3/6 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

    2,656 matched papers (1,545 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Atrial situs ambiguous; Dextrocardia; Third degree atrioventricular block) Source

  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 trialPresent

    3 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)

49

Associated phenotypes · MONDO:0016301

  • Atrial situs ambiguous
  • Dextrocardia
  • Third degree atrioventricular block
  • Supraventricular tachycardia
  • Tricuspid regurgitation

Showing 5 of 49 — open Monarch for the full list.

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?

2,656

2,656 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.

2,656 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).

1,545 in the last 10 years · low confidence

Phrase hits: 2,656 · MeSH hits: 40

Open Europe PMC search

Who's working on it?

1,137

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
    Barron DJ7 papers · 2026

    Department of Cardiovascular Surgery, Hospital for Sick Children, Toronto, Ontario, Canada.

    Papers in Europe PMC
  2. 02
    Egbe AC7 papers · 2026

    Department of Cardiovascular Medicine, USA.

    Papers in Europe PMC
  3. 03
    Connolly HM6 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, mn, 55905, USA.

    Papers in Europe PMC
  4. 04
    Miranda WR6 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, mn, 55905, USA.

    Papers in Europe PMC
  5. 05
    Ghelani SJ5 papers · 2026

    Department of Cardiology, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA. sunil.ghelani@cardio.chboston.org.

    Papers in Europe PMC
  6. 06
    Khairy P5 papers · 2026

    Division of Electrophysiology, Department of Medicine, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada.

    Papers in Europe PMC
  7. 07
    Kowalik E5 papers · 2026

    Department of Congenital Heart Diseases, National Institute of Cardiology, Warsaw, Poland.

    Papers in Europe PMC
  8. 08
    Ladouceur M5 papers · 2026

    Adult Congenital Cardiology Department, M3C National Reference Centre, Hopital Europeen Georges Pompidou, APHP, 20 Rue Leblanc, 75015 Paris, France.

    Papers in Europe PMC
  9. 09
    Thatte N5 papers · 2026

    Department of Cardiology, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.

    Papers in Europe PMC
  10. 10
    Baruteau AE4 papers · 2026

    Department of Pediatric Cardiology and Pediatric Cardiac Surgery, Children's Hospital, CHU Nantes, Nantes, France; Division of Pediatric Cardiology, Nantes Université, Nantes, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 7 trials are registered for transposition of the great arteries, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Broader category: transposition of the great arteries

7

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.

Observational and natural-history studies

1 observational study matches 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Congenitally corrected transposition of the great arteries — 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.

"Congenitally corrected transposition of the great arteries" OR "Congenitally corrected transposition of great arteries" OR "Congenitally corrected transposition of the great vessels" OR "Congenitally corrected transposition of great vessels" OR "Discordant ventriculoarterial and atrioventricular connections" OR "Double discordance" OR "L-transposition of the great arteries" OR "L-transposition of great arteries" OR "L-transposition of the great vessels" OR "L-transposition of great vessels" OR "levo-transposition of the great arteries" OR "levo-transposition of great arteries" OR "levo-transposition of the great vessels" OR "levo-transposition of great vessels" OR "ventricular inversion" OR "ventriculoarterial and atrioventricular discordance"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenitally Corrected Transposition of the Great Arteries

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

"Congenitally corrected transposition of the great arteries" OR "Congenitally corrected transposition of great arteries" OR "Congenitally corrected transposition of the great vessels" OR "Congenitally corrected transposition of great vessels" OR "Discordant ventriculoarterial and atrioventricular connections" OR "Double discordance" OR "L-transposition of the great arteries" OR "L-transposition of great arteries" OR "L-transposition of the great vessels" OR "L-transposition of great vessels" OR "levo-transposition of the great arteries" OR "levo-transposition of great arteries" OR "levo-transposition of the great vessels" OR "levo-transposition of great vessels" OR "ventricular inversion" OR "ventriculoarterial and atrioventricular discordance"

Interventional trials matched via: both, 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: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"transposition of the great arteries"

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

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
  • Publication count (2656) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:41:21.145Z