ORPHA:402075
Familial bicuspid aortic valve
Also known as: Familial BAV
Publications
113
60.9th percentile
Trials
0
Interventional, condition-specific
Researchers
776
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Familial bicuspid aortic valve is a rare, genetic, aortic defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007194
- UMLS:C4749284
Additional Mondo synonyms (1)
familial BAV
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
113 matched papers (73 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
113
113 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=5449) is 41.
113 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).
73 in the last 10 years · high confidence · 60.9th percentile (publications denominator)
Phrase hits: 113 · MeSH hits: 0
Who's working on it?
776
Distinct author names in 113 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.
- 01Garg V10 papers · 2023
Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, OH 43205, USA vidu.garg@nationwidechildrens.org.
Papers in Europe PMC - 02McBride KL7 papers · 2026
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Papers in Europe PMC - 03Hui DS5 papers · 2026
Department of Cardiothoracic Surgery, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.
Papers in Europe PMC - 04Milewicz DM5 papers · 2026
John P and Kathrine G McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Papers in Europe PMC - 05Hughes GC4 papers · 2025
Division of Cardiovascular and Thoracic Surgery, Department of Surgery, Duke University Medical Center, Durham, NC.
Papers in Europe PMC - 06Isselbacher EM4 papers · 2023
From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston.
Papers in Europe PMC - 07Nistri S4 papers · 2018
Center of Excellence for the Study at Molecular and Clinical Level of Chronic, Degenerative and Neoplastic Diseases to Develop Novel Therapies (DENOTHE), University of FlorenceFlorence, Italy.
Papers in Europe PMC - 08Prakash SK4 papers · 2026
Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address: Siddharth.K.Prakash@uth.tmc.edu.
Papers in Europe PMC - 09Vallabhajosyula P4 papers · 2024
Division of Cardiovascular Surgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Papers in Europe PMC - 10Woo YJ4 papers · 2023
AHA/ACC Joint Committee on Clinical Practice Guidelines liaison.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Familial bicuspid aortic valve" OR "Familial BAV"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial bicuspid aortic valve" OR "Familial BAV"
Study-type breakdown: 0 interventional · 0 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
Ingested 2026-07-27T15:31:50.674Z