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ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy

high confidenceDisorder

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

Publications

45

35.6th percentile

Trials

0

Interventional, condition-specific

Researchers

304

Distinct authors in sample

Gene link

DSC2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial isolated arrhythmogenic right ventricular (ARVC) is the familial form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.

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 (6)

familial isolated ARVC · familial isolated ARVD · familial isolated arrhythmogenic right ventricular cardiomyopathy · familial isolated arrhythmogenic right ventricular dysplasia · familial isolated arrhythmogenic ventricular cardiomyopathy · familial isolated arrhythmogenic ventricular dysplasia

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 identifiedPresent

    Definitive — DSC2

  2. LiteraturePresent

    45 matched papers (18 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 trialPartial

    None under the specific name; 722 for broader category cardiomyopathy

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 (DSC2).

GenCC classification: Definitive.

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?

45

45 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.

45 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).

18 in the last 10 years · high confidence · 35.6th percentile (publications denominator)

Phrase hits: 45 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

304

Distinct author names in 45 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
    Sarbu I3 papers · 2023

    "Sfanta Maria" Clinical Emergency Hospital for Children, 700309 Iasi, Romania.

    Papers in Europe PMC
  2. 02
    Hodgkinson KA2 papers · 2013

    Clinical Epidemiology Unit, Memorial University, Health Sciences Centre, St. John's, Newfoundland, Canada. khodgkin@mun.ca

    Papers in Europe PMC
  3. 03
    McKenna W2 papers · 2013
    Papers in Europe PMC
  4. 04
    McKenna WJ2 papers · 2013
    Papers in Europe PMC
  5. 05
    Nava A2 papers · 2005
    Papers in Europe PMC
  6. 06
    Pantazis A2 papers · 2013
    Papers in Europe PMC
  7. 07
    Rampazzo A2 papers · 2005

    Department of Biology, University of Padua, Italy.

    Papers in Europe PMC
  8. 08
    Syrris P2 papers · 2013

    Department of Medicine, University College London Hospitals Trust, London, UK.

    Papers in Europe PMC
  9. 09
    Thiene G2 papers · 2005
    Papers in Europe PMC
  10. 10
    Young TL2 papers · 2013
    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). 722 trials are registered for cardiomyopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

722 interventional trials matched cardiomyopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: cardiomyopathy

722

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

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.

"Inherited isolated arrhythmogenic cardiomyopathy" OR "familial isolated ARVC" OR "familial isolated ARVD" OR "familial isolated arrhythmogenic right ventricular cardiomyopathy" OR "familial isolated arrhythmogenic right ventricular dysplasia" OR "familial isolated arrhythmogenic ventricular cardiomyopathy" OR "familial isolated arrhythmogenic ventricular dysplasia"

Run this search on Europe PMC

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

"Inherited isolated arrhythmogenic cardiomyopathy" OR "familial isolated ARVC" OR "familial isolated ARVD" OR "familial isolated arrhythmogenic right ventricular cardiomyopathy" OR "familial isolated arrhythmogenic right ventricular dysplasia" OR "familial isolated arrhythmogenic ventricular cardiomyopathy" OR "familial isolated arrhythmogenic ventricular dysplasia" OR "DSC2"

Recall-expansion terms: DSC2

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

Parent-category trials query:

"cardiomyopathy"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T09:52:12.364Z