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ORPHA:3286

Catecholaminergic polymorphic ventricular tachycardia

medium confidenceDisorder

Also known as: Bidirectional ventricular tachycardia induced by catecholamine · CPVT · Malignant paroxysmal ventricular tachycardia · Polymorphic ventricular tachycardia induced by catecholamines

Publications

3,932

95.9th percentile

Trials

8

Interventional, condition-specific

Researchers

1,188

Distinct authors in sample

Gene link

ANK2, CALM1, CALM2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.

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 (6)

bidirectional tachycardia induced by catecholamine · catecholaminergic polymorphic ventricular tachycardia · double tachycardia induced by catecholamines · malignant paroxysmal ventricular tachycardia · multifocal ventricular premature beats · ventricular tachycardia, catecholaminergic polymorphic

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

    Definitive — ANK2, CALM1, CALM2, CALM3, CASQ2…

  2. LiteraturePresent

    3,932 matched papers (2,443 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

    8 matched on ClinicalTrials.gov (3 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 (ANK2, CALM1, CALM2…).

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?

3,932

3,932 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=5449) is 41.

3,932 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).

2,443 in the last 10 years · medium confidence · 95.9th percentile (publications denominator)

Phrase hits: 3,932 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,188

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
    Roston TM11 papers · 2026

    Division of Cardiology and Centre for Cardiovascular Innovation, University of British Columbia, Vancouver, Canada.

    Papers in Europe PMC
  2. 02
    Krahn AD9 papers · 2026

    Division of Cardiology and Centre for Cardiovascular Innovation, University of British Columbia, Vancouver, Canada.

    Papers in Europe PMC
  3. 03
    Sanatani S9 papers · 2026

    Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.

    Papers in Europe PMC
  4. 04
    Ackerman MJ8 papers · 2026

    Windland Smith Rice Genetic Heart Rhythm Clinic, Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  5. 05
    Schwartz PJ7 papers · 2026

    Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy. Electronic address: p.schwartz@auxologico.it.

    Papers in Europe PMC
  6. 06
    Bos JM6 papers · 2026

    Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota, USA; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  7. 07
    Crotti L6 papers · 2026

    Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy; Department of Medicine and Surgery, University of Milano-Bicocca, Milano, Italy. Electronic address: l.crotti@auxologico.it.

    Papers in Europe PMC
  8. 08
    Roberts JD6 papers · 2026

    Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Hamilton Health Sciences and McMaster University, Hamilton, Ontario, Canada.

    Papers in Europe PMC
  9. 09
    Wilde AAM6 papers · 2026

    Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands.

    Papers in Europe PMC
  10. 10
    Bezzerides VJ5 papers · 2026

    Department of Cardiology, Boston Children's Hospital, MA (F.L., Z.W., S.C., A.P., Q.M., N.P., C.L., Y.T., M.P., S.S.T., S.R.L. V.J.B., W.T.P.).

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 2 trials are registered for polymorphic ventricular tachycardia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

medium confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: polymorphic ventricular tachycardia

2

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.

Observational and natural-history studies

9 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.

"Catecholaminergic polymorphic ventricular tachycardia" OR "Bidirectional ventricular tachycardia induced by catecholamine" OR "Malignant paroxysmal ventricular tachycardia" OR "Polymorphic ventricular tachycardia induced by catecholamines" OR "bidirectional tachycardia induced by catecholamine" OR "double tachycardia induced by catecholamines" OR "multifocal ventricular premature beats" OR "ventricular tachycardia, catecholaminergic polymorphic"

Run this search on Europe PMC

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

"Catecholaminergic polymorphic ventricular tachycardia" OR "Bidirectional ventricular tachycardia induced by catecholamine" OR "Malignant paroxysmal ventricular tachycardia" OR "Polymorphic ventricular tachycardia induced by catecholamines" OR "bidirectional tachycardia induced by catecholamine" OR "double tachycardia induced by catecholamines" OR "multifocal ventricular premature beats" OR "ventricular tachycardia, catecholaminergic polymorphic" OR "ANK2" OR "CALM1" OR "CALM2"

Recall-expansion terms: ANK2, CALM1, CALM2

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: 8 interventional · 9 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polymorphic ventricular tachycardia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CPVT

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 2026-07-26T22:45:06.503Z