ORPHA:293888
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Also known as: ALVC · Arrhythmogenic cardiomyopathy dominant-left variant · Arrhythmogenic cardiomyopathy with left ventricular involvement · Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form
Publications
8
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
97
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017401
- UMLS:C5925017
Additional Mondo synonyms (1)
familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
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
8 matched papers (8 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?
8
8 papers have ever been indexed 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.
8 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).
8 in the last 10 years · medium confidence · 24.9th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
97
Distinct author names in 8 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.
- 01Sanz-Sánchez J3 papers · 2020
Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, España.
Papers in Europe PMC - 02Zorio E3 papers · 2020
Unidad de Valoración del Riesgo de Muerte Súbita Familiar and Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Valencia, España.
Papers in Europe PMC - 03Calvillo-Batllés P2 papers · 2020
Servicio de Radiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Papers in Europe PMC - 04Castells F2 papers · 2020
Instituto ITACA, Universitat Politècnica de València, Valencia, Spain. Electronic address: fcastells@eln.upv.es.
Papers in Europe PMC - 05Millet J2 papers · 2020
Instituto ITACA, Universitat Politècnica de València, Valencia, Spain.
Papers in Europe PMC - 06Molina P2 papers · 2019
Servicio de Patología, Instituto de Medicina Legal y Ciencias Forenses de Valencia, Valencia, España.
Papers in Europe PMC - 07Vives-Gilabert Y2 papers · 2020
Instituto ITACA, Universitat Politècnica de València, Valencia, Spain.
Papers in Europe PMC - 08Acquaro M1 paper · 2023
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 09Ambrosini E1 paper · 2025
Medical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.
Papers in Europe PMC - 10Baritussio A1 paper · 2022
Department of Cardiac, Thoracic, Vascular Sciences, and Public Health, University of Padua, Padua, Italy.
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.
medium 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.
"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant" OR "Arrhythmogenic cardiomyopathy dominant-left variant" OR "Arrhythmogenic cardiomyopathy with left ventricular involvement" OR "Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form" OR "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant" OR "Arrhythmogenic cardiomyopathy dominant-left variant" OR "Arrhythmogenic cardiomyopathy with left ventricular involvement" OR "Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form" OR "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form"
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
Synonyms dropped by stoplist: ALVC
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 2026-07-27T12:24:04.155Z