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ORPHA:3093

Congenital aortic valve stenosis

high confidenceDisorder

Publications

279

59.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare aortic of variable severity and clinical presentation. Clinical presentations range from a severe presentation often associated with sudden cardiac death, to a slowly stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.

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.”

3/6 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

    279 matched papers (121 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Aortic valve stenosis; Dysplastic aortic valve; Aortic valve atresia) 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 trialPartial

    None under the specific name; 297 for broader category aortic valve stenosis

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)

17

Associated phenotypes · MONDO:0017735

  • Aortic valve stenosis
  • Dysplastic aortic valve
  • Aortic valve atresia
  • Increased QRS voltage
  • Endocarditis

Showing 5 of 17 — 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?

279

279 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

279 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).

121 in the last 10 years · high confidence · 59.7th percentile (publications denominator)

Phrase hits: 279 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,154

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
    Konstantinov IE6 papers · 2024

    Royal Children's Hospital, Melbourne, Australia.

    Papers in Europe PMC
  2. 02
    Angel PM4 papers · 2022

    Department of Cell and Molecular Pharmacology & Experimental Therapeutics Medical University of South Carolina, Charleston, SC.

    Papers in Europe PMC
  3. 03
    d'Udekem Y4 papers · 2025

    Royal Children's Hospital, Melbourne, Vic, Australia; University of Melbourne, Melbourne, Vic, Australia; Murdoch Children's Research Institute, Melbourne, Vic, Australia.

    Papers in Europe PMC
  4. 04
    Belmont JW3 papers · 2022

    Departments of Molecular and Human Genetics and Pediatrics, Baylor College of Medicine, Genetics & Genomics Services, Inc., Houston, TX 77096, USA.

    Papers in Europe PMC
  5. 05
    Clift CL3 papers · 2022

    Department of Cell and Molecular Pharmacology, MUSC Proteomics Center, Bruker-MUSC Clinical Glycomics Center of Excellence, Medical University of South Carolina, 173 Ashley Ave, BSB358, Charleston, SC, 29425, USA.

    Papers in Europe PMC
  6. 06
    Drake RR3 papers · 2022

    Department of Cell and Molecular Pharmacology, MUSC Proteomics Center, Bruker-MUSC Clinical Glycomics Center of Excellence, Medical University of South Carolina, 173 Ashley Ave, BSB358, Charleston, SC, 29425, USA.

    Papers in Europe PMC
  7. 07
    Garg V3 papers · 2025

    Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH 43205, USA vidu.garg@nationwidechildrens.org.

    Papers in Europe PMC
  8. 08
    Jackson M3 papers · 1994
    Papers in Europe PMC
  9. 09
    McBride KL3 papers · 2022

    Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.

    Papers in Europe PMC
  10. 10
    Suzuki K3 papers · 2024

    Department of Pediatrics Nagoya City University Hospital Aichi Japan.

    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). 297 trials are registered for aortic valve stenosis, 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.

297 interventional trials matched aortic valve stenosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: aortic valve stenosis

297

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 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 Congenital aortic valve stenosis — 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.

"Congenital aortic valve stenosis"

Run this search on Europe PMC

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

"Congenital aortic valve stenosis"

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

Parent-category trials query:

"aortic valve stenosis"

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 2026-07-26T22:12:29.427Z