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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

20,322

97.3th percentile

Trials

8

Interventional, condition-specific

Researchers

1,188

Distinct authors in sample

Gene link

ANK2, CALM1, CALM2

Definitive

Readiness

6/6

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.”

6/6 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

    20,322 matched papers (11,686 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Sudden death; Seizure; Syncope) Source

  4. Animal modelPresent

    15 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector serotype 9 containing the human cardiac calsequestrin gene Source

  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)

61

Associated phenotypes · MONDO:0017990

  • Sudden death
  • Seizure
  • Syncope
  • Polymorphic ventricular tachycardia
  • Ventricular tachycardia

Showing 5 of 61 — open Monarch for the full list.

Animal models (Monarch / Alliance)

15

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA adeno-associated viral vector serotype 9 containing the human cardiac calsequestrin geneTreatment of catecholaminergic polymorphic ventricular tachycardia · 29/07/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0017990

CTD chemicals (MyDisease.info)

2 associated chemicals · 173 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Phenylephrine · marker/mechanism
  • Sotalol · marker/mechanism

Pathways: Ras signaling pathway; Rap1 signaling pathway; Calcium signaling pathway; cGMP-PKG signaling pathway; cAMP signaling pathway; Phosphatidylinositol signaling system; Oocyte meiosis; Cardiac muscle contraction

MyDisease.info · MONDO:0017990

Literature

Is anyone studying this?

20,322

20,322 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=3967) is 59.

20,322 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).

11,686 in the last 10 years · medium confidence · 97.3th 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 11 September 2026 · last trial check 28 July 2026

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

medium confidence · 91.5th 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

8 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

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (3)

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 Catecholaminergic polymorphic ventricular tachycardia — 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.

("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 "ANK2 syndrome" OR "ANK2-related" OR "CALM1" OR "CALM1 syndrome" OR "CALM1-related" OR "CALM2" OR "CALM2 syndrome" OR "CALM2-related")

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"

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

Parent-category trials query:

"polymorphic ventricular tachycardia"

Query health: ok — strategies attempted: phrase; with hits: phrase

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