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ORPHA:217656

Inherited isolated arrhythmogenic cardiomyopathy

low confidenceDisorder

Publications

4,596

Trials

0

Interventional, condition-specific

Researchers

304

Distinct authors in sample

Gene link

DSC2

Definitive

Readiness

5/6

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.”

5/6 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

    4,596 matched papers (3,231 in last 10 years) Source

  3. Phenotype characterisedPresent

    103 HPO annotations (e.g. T-wave inversion in the right precordial leads; Ventricular arrhythmia; Right ventricular cardiomyopathy) Source

  4. Animal modelPresent

    21 genotype models (Mus musculus) Source

  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; 740 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)

103

Associated phenotypes · MONDO:0016342

  • T-wave inversion in the right precordial leads
  • Ventricular arrhythmia
  • Right ventricular cardiomyopathy
  • Focal necrosis of right ventricular muscle cells
  • Sudden death

Showing 5 of 103 — open Monarch for the full list.

Animal models (Monarch / Alliance)

21

Model associations linked to this Mondo ID

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?

4,596

4,596 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,596 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).

3,231 in the last 10 years · low confidence

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). 740 trials are registered for cardiomyopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 26 October 2026 · last trial check 26 October 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5498 of 7126). Here are the researchers publishing on it.

low 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.

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

Broader category: cardiomyopathy

740

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Inherited isolated arrhythmogenic cardiomyopathy — 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.

("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" OR "DSC2 syndrome" OR "DSC2-related")

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"

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

Parent-category trials query:

"cardiomyopathy"

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
  • Publication count (4596) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:52:12.364Z