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ORPHA:3303

Tetralogy of Fallot

low confidenceDisorder

Publications

43,631

Trials

46

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

GATA6, KDR, NKX2-5

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Tetralogy of Fallot is a cardiac that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

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 (2)

tetralogy of fallot · ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GATA6, KDR, NKX2-5, POPDC1, ZFPM2

  2. LiteraturePresent

    43,631 matched papers (22,738 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Dolichocephaly; Broad forehead; Intrauterine growth retardation) Source

  4. Animal modelPresent

    19 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. phenylephrine Source

  6. Interventional trialPresent

    46 matched on ClinicalTrials.gov (10 recruiting in sample)

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?

Yes — we know a specific gene responsible (GATA6, KDR, NKX2-5…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0008542

  • Dolichocephaly
  • Broad forehead
  • Intrauterine growth retardation
  • Preauricular pit
  • Abnormal nasal morphology

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

19

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA phenylephrineTetralogy of Fallot · 2012-01-31 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

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

CTD chemicals (MyDisease.info)

14 associated chemicals · 57 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Alprostadil · therapeutic
  • Phenylephrine · therapeutic
  • Air Pollutants · marker/mechanism
  • Amantadine · marker/mechanism
  • Carbon Monoxide · marker/mechanism
  • Contraceptives, Oral, Synthetic · marker/mechanism
  • Dichloroacetic Acid · marker/mechanism
  • Ethanol · marker/mechanism
  • Hydroxyprogesterones · marker/mechanism
  • Ozone · marker/mechanism
  • Particulate Matter · marker/mechanism
  • Primidone · marker/mechanism

Pathways: Endocrine resistance; Ras signaling pathway; Rap1 signaling pathway; cGMP-PKG signaling pathway; Cytokine-cytokine receptor interaction; PI3K-Akt signaling pathway; Notch signaling pathway; Apelin signaling pathway

MyDisease.info · MONDO:0008542

Literature

Is anyone studying this?

43,631

43,631 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.

43,631 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).

22,738 in the last 10 years · low confidence

Phrase hits: 29,281 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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
    Nathan M4 papers · 2026

    Department of Cardiac Surgery, Boston Children's Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts. Electronic address: meena.nathan@cardio.chboston.org.

    Papers in Europe PMC
  2. 02
    Wang H4 papers · 2026

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  3. 03
    Bhat M3 papers · 2026

    Department of Pediatric Cardiology, Pediatric Heart Center, Skane University Hospital, Lund, Sweden.

    Papers in Europe PMC
  4. 04
    Connor JA3 papers · 2026

    Cardiovascular, Critical Care and Perioperative Patient Services Boston Children's Hospital, Harvard Medical School Boston MA USA.

    Papers in Europe PMC
  5. 05
    Gauvreau K3 papers · 2026

    Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

    Papers in Europe PMC
  6. 06
    Hörer J3 papers · 2026

    Department of Congenital Heart Defect Surgery and Paediatric Cardiac Surgery, TUM University Hospital German Heart Center, Technical University of Munich, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Inai K3 papers · 2026

    Department of Pediatric Cardiology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Jacobs JP3 papers · 2026

    Congenital Heart Center, University of Florida Health Shands Children's Hospital, Gainesville, Florida.

    Papers in Europe PMC
  9. 09
    Khairy P3 papers · 2026

    Electrophysiology Service and Adult Congenital Heart Disease Center.

    Papers in Europe PMC
  10. 10
    Kogure T3 papers · 2026

    Department of Cardiology, Tokyo Women's Medical University, Tokyo, Shinjuku-ku, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

46

interventional trials for this specific condition

46 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

46 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

low confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

37 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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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).

Uncertain / not reviewed (7)

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 Tetralogy of Fallot — 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.

("Tetralogy of Fallot" OR "Tetralogy of the Fallot" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of the aorta, and hypertrophy of the right ventricle") OR ("GATA6" OR "GATA6 syndrome" OR "GATA6-related" OR "KDR syndrome" OR "KDR-related" OR "NKX2-5" OR "NKX2-5 syndrome" OR "NKX2-5-related")

Run this search on Europe PMC

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

"Tetralogy of Fallot" OR "Tetralogy of the Fallot" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" OR "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of the aorta, and hypertrophy of the right ventricle"

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: 46 interventional · 37 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
  • Publication count (43631) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:47:52.947Z