ORPHA:99095
Congenital Gerbode defect
Also known as: Left ventricular-to-right atrial communication
Publications
334
79.5th percentile
Trials
0
Interventional, condition-specific
Researchers
880
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, non-syndromic heart characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other heart anomalies may be associated.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020428
- UMLS:C0344947
Additional Mondo synonyms (2)
Gerbode defect · left ventricular-to-right atrial communication
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
334 matched papers (211 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?
334
334 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.
334 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).
211 in the last 10 years · high confidence · 79.5th percentile (publications denominator)
Phrase hits: 334 · MeSH hits: 0
Who's working on it?
880
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.
- 01Santangeli P5 papers · 2025
Electrophysiology Section, Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Papers in Europe PMC - 02Sorrell VL4 papers · 2025
University of Kentucky Gill Heart & Vascular Institute, Lexington, Kentucky.
Papers in Europe PMC - 03Singh A3 papers · 2024
University of Chicago Medical Center, 5841 S. Maryland Avenue, Chicago, IL 60637, USA.
Papers in Europe PMC - 04Aykan HH2 papers · 2026
Department of Cardiovascular Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Papers in Europe PMC - 05Aziz ZBA2 papers · 2026
Department of Cardiothoracic Surgery, National Heart Centre Singapore, Singapore, Singapore.
Papers in Europe PMC - 06Beliaev AM2 papers · 2020
Green Lane Cardiothoracic Surgical Unit, Auckland City Hospital, Auckland, New Zealand.
Papers in Europe PMC - 07Bian H2 papers · 2024
Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, 250021, PR China.
Papers in Europe PMC - 08Biçer BB2 papers · 2026
Department of Cardiovascular Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Papers in Europe PMC - 09Chu MWA2 papers · 2026
Division of Cardiac Surgery, Western University, B6-106 University Hospital, LHSC, 339 Windermere Road, London, ON N6A 5A5 Canada.
Papers in Europe PMC - 10Chua YL2 papers · 2026
Department of Cardiothoracic Surgery, National Heart Centre Singapore, Singapore, Singapore.
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.
"Congenital Gerbode defect" OR "Left ventricular-to-right atrial communication" OR "Gerbode defect"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital Gerbode defect" OR "Left ventricular-to-right atrial communication" OR "Gerbode defect"
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 2026-07-27T06:03:19.978Z