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ORPHA:1478

Interatrial communication

medium confidenceDisorder

Also known as: ASD · Atrial septal defect · Interauricular communication

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

39,029

99.3th percentile

Trials

43

Interventional, condition-specific

Researchers

1,162

Distinct authors in sample

Gene link

MYH6

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A cardiac characterized by a communication between the atrial chambers of the heart.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

Atrial Septal Defects · atrial septal defect · atrial septum defect · auricular septal defect · congenital atrial septal defect · interatrial septal defect · interauricular 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — MYH6

  2. LiteraturePresent

    39,029 matched papers (20,434 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    43 matched on ClinicalTrials.gov (8 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 (MYH6).

GenCC classification: Strong.

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?

39,029

39,029 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=5449) is 41.

39,029 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).

20,434 in the last 10 years · medium confidence · 99.3th percentile (publications denominator)

Phrase hits: 39,029 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,162

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
    Blixenkrone-Møller E3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  2. 02
    Bundgaard H3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  3. 03
    Dannesbo S3 papers · 2026

    Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. Electronic address: sofie.dannnesbo.01@regionh.dk.

    Papers in Europe PMC
  4. 04
    Dehn AM3 papers · 2026

    Department of Cardiothoracic Surgery, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

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

    Department of Cardiology, Copenhagen University Hospital Herlev, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  6. 06
    Jones M3 papers · 2025

    Department of Paediatric Cardiology, Evelina London Children's Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Mandalenakis Z3 papers · 2026

    Adult Congenital Heart Disease Unit, Sahlgrenska University Hospital, Östra Hospital, Gothenburg, Sweden.

    Papers in Europe PMC
  8. 08
    Wang C3 papers · 2026

    Department of Structural Heart Disease, National Center for Cardiovascular Disease, China.

    Papers in Europe PMC
  9. 09
    Wang J3 papers · 2026

    Department of Congenital Heart Disease, General Hospital of Northern Theatre Commandhttps://ror.org/05tf9r976, Shenyang, China.

    Papers in Europe PMC
  10. 10
    Yang L3 papers · 2026

    Department of Radiology, Yan'an Hospital Affiliated to Kunming Medical University, Kunming, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

43

interventional trials for this specific condition

43 interventional trials matched this specific condition name; 8 currently recruiting in our sample.

Data as of 27 July 2026

43 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.7th percentile).

medium confidence · 96.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

27 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

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 2026-07-26

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.

"Interatrial communication" OR "Atrial septal defect" OR "Interauricular communication" OR "Atrial Septal Defects" OR "atrial septum defect" OR "auricular septal defect" OR "congenital atrial septal defect" OR "interatrial septal defect"

Run this search on Europe PMC

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

"Interatrial communication" OR "Atrial septal defect" OR "Interauricular communication" OR "Atrial Septal Defects" OR "atrial septum defect" OR "auricular septal defect" OR "congenital atrial septal defect" OR "interatrial septal defect" OR "MYH6"

Recall-expansion terms: MYH6

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: 43 interventional · 27 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ASD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:30:31.918Z