# Taquicardia ventricular polimórfica catecolaminérgica

> Página oficial: https://raras.org/doenca/taquicardia-ventricular-polimorfica-catecolaminergica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 3286 — https://www.orpha.net/en/disease/detail/3286
- **CID-10**: I47.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A taquicardia ventricular polimórfica catecolaminérgica (CPVT) é uma doença arritmogénica genética grave caracterizada por taquicardia ventricular induzida adrenergicamente (VT) manifestando-se como síncope e morte súbita.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (32 fenótipos HPO)

- **Síncope** — HPO: HP:0001279 (Ocasional (29-5%))
- **Parada cardíaca** — HPO: HP:0001695 (Frequente (79-30%))
- **Taquicardia supraventricular** — HPO: HP:0004755 (Frequente (79-30%))
- **Vertigem** — HPO: HP:0002321 (Frequente (79-30%))
- **Taquicardia ventricular** — HPO: HP:0004756 (Muito frequente (99-80%))
- **Morte cardíaca súbita** — HPO: HP:0001645 (Ocasional (29-5%))
- **Palpitações** — HPO: HP:0001962 (Frequente (79-30%))
- **Fibrilação ventricular** — HPO: HP:0001663 (Ocasional (29-5%))
- **Fibrilação atrial** — HPO: HP:0005110 (Frequente (79-30%))
- **Taquicardia ventricular polimórfica** — HPO: HP:0031677 (Frequente (79-30%))
- **Morte súbita** — HPO: HP:0001699
- **Bradicardia** — HPO: HP:0001662
- **Convulsão** — HPO: HP:0001250
- **Intervalo QTc prolongado** — HPO: HP:0005184
- **Bloqueio atrioventricular de segundo grau** — HPO: HP:0011706
- **Defeito do septo ventricular perimembranoso** — HPO: HP:0011682
- **Persistência do canal arterial após o nascimento a termo** — HPO: HP:0011648
- **Extrassístoles ventriculares** — HPO: HP:0006682
- **Alternância de onda T** — HPO: HP:0012266
- **Choque** — HPO: HP:0031273
- **Intervalo QT prolongado** — HPO: HP:0001657
- **Fraqueza muscular proximal** — HPO: HP:0003701
- **Parada atrial** — HPO: HP:0025478
- **Síndrome do seio doente** — HPO: HP:0011704
- **Dupla ventricular** — HPO: HP:0034039
- **Taquicardia ventricular bidirecional** — HPO: HP:0034040
- **Função sistólica reduzida** — HPO: HP:0006673
- **Taquicardia ventricular polimórfica induzida por esforço** — HPO: HP:0004758
- **Fibrilação atrial paroxística** — HPO: HP:0004757
- **Bloqueio atrioventricular** — HPO: HP:0001678
- **Cardiomiopatia dilatada** — HPO: HP:0001644
- **Taquicardia ventricular paroxística** — HPO: HP:0004751

## Genes associados (7)

- **RYR2** — Ryanodine receptor 2 [Disease-causing germline mutation(s) in]
  - Função: Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction.
- **CALM3** — Calmodulin-3 [Candidate gene tested in]
  - Função: Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:1676
- **TECRL** — Trans-2,3-enoyl-CoA reductase-like [Disease-causing germline mutation(s) in]
- **CALM2** — Calmodulin-2 [Candidate gene tested in]
  - Função: Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:1676
- **CASQ2** — Calsequestrin-2 [Disease-causing germline mutation(s) in]
  - Função: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein
- **CALM1** — Calmodulin-1 [Disease-causing germline mutation(s) in]
  - Função: Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:1676
- **TRDN** — Triadin [Disease-causing germline mutation(s) in]
  - Função: Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required fo

## Ensaios clínicos ativos (8)

- **NCT07148089** [RECRUITING]: A Study of SGT-501 Gene Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) — https://clinicaltrials.gov/study/NCT07148089
- **NCT06658899** [RECRUITING]: A Phase 2 Study of CRD-4730 in CPVT — https://clinicaltrials.gov/study/NCT06658899
- **NCT06546137** [RECRUITING]: National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry — https://clinicaltrials.gov/study/NCT06546137
- **NCT07263139** [RECRUITING]: Safety, Tolerability, and Exploratory Efficacy of AGP100 in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) — https://clinicaltrials.gov/study/NCT07263139
- **NCT06661278** [RECRUITING]: Evaluation of Exercise Testing and Physical Activity in Children and Adolescents Living With Inherited Arrhythmias — https://clinicaltrials.gov/study/NCT06661278
- **NCT05521451** [RECRUITING]: Clinical Cohort Study - TRUST — https://clinicaltrials.gov/study/NCT05521451
- **NCT02413450** [ENROLLING_BY_INVITATION]: Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias — https://clinicaltrials.gov/study/NCT02413450
- **NCT04189822** [ENROLLING_BY_INVITATION]: Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank — https://clinicaltrials.gov/study/NCT04189822
- **NCT05687474** [COMPLETED]: Baby Detect : Genomic Newborn Screening — https://clinicaltrials.gov/study/NCT05687474
- **NCT06005428** [TERMINATED]: Effectiveness of CRD-4730 in Participants With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) — https://clinicaltrials.gov/study/NCT06005428

## Doenças relacionadas (por similaridade fenotípica)

- [Cardiomiopatia arritmogênica hereditária](https://raras.org/doenca/247) — ORPHA:247 — 20 sintomas em comum
- [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 20 sintomas em comum
- [Síndrome do QT longo de Romano-Ward](https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward) — ORPHA:101016 — 20 sintomas em comum
- [Cardiomiopatia arritmogênica isolada hereditária](https://raras.org/doenca/cardiomiopatia-arritmogenica-isolada-hereditaria) — ORPHA:217656 — 18 sintomas em comum
- [Miocardiopatia dilatada isolada familiar](https://raras.org/doenca/miocardiopatia-dilatada-isolada-familiar) — ORPHA:154 — 18 sintomas em comum
- [Síndrome Brugada](https://raras.org/doenca/sindrome-brugada) — ORPHA:130 — 12 sintomas em comum
- [Síndrome do nó sinusal doente hereditária](https://raras.org/doenca/sindrome-do-no-sinusal-doente-hereditaria) — ORPHA:166282 — 11 sintomas em comum
- [Paralisia periódica](https://raras.org/doenca/paralisia-periodica) — ORPHA:206976 — 10 sintomas em comum
- [Paralisia periódica genética](https://raras.org/doenca/paralisia-periodica-genetica) — ORPHA:371433 — 10 sintomas em comum
- [Fibrilação atrial hereditária](https://raras.org/doenca/334) — ORPHA:334 — 9 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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