# Síndrome Brugada

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

## Identificadores

- **ORPHA**: 130 — https://www.orpha.net/en/disease/detail/130
- **CID-10**: I49.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O síndrome de Brugada (BrS) manifesta-se com elevação do segmento ST nas derivações precordiais direitas (V1 a V3), bloqueio incompleto ou completo do ramo direito, e suscetibilidade a taquiarritmia ventricular e morte súbita. O BrS é uma patologia eléctrica sem anomalias evidentes do miocárdio.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Not applicable

## Sinais e sintomas (27 fenótipos HPO)

- **Bloqueio atrioventricular de primeiro grau** — HPO: HP:0011705 (Ocasional (29-5%))
- **Síncope** — HPO: HP:0001279 (Frequente (79-30%))
- **Taquicardia** — HPO: HP:0001649 (Ocasional (29-5%))
- **Fibrilação ventricular** — HPO: HP:0001663 (Ocasional (29-5%))
- **Parada cardíaca** — HPO: HP:0001695 (Frequente (79-30%))
- **Arritmia ventricular** — HPO: HP:0004308 (Raro (<5%))
- **Taquicardia supraventricular** — HPO: HP:0004755 (Ocasional (29-5%))
- **Taquicardia ventricular paroxística** — HPO: HP:0004751 (Ocasional (29-5%))
- **Síndrome do seio doente** — HPO: HP:0011704 (Ocasional (29-5%))
- **Elevação do segmento ST** — HPO: HP:0012251 (Frequente (79-30%))
- **Bloqueio trifascicular** — HPO: HP:0011715 (Raro (<5%))
- **Bloqueio do ramo direito** — HPO: HP:0011712 (Frequente (79-30%))
- **Fibrilação atrial paroxística** — HPO: HP:0004757
- **Flutter atrial** — HPO: HP:0004749
- **Onda P prolongada** — HPO: HP:0034308
- **Fibrilação atrial permanente** — HPO: HP:0004754
- **Taquicardia ventricular** — HPO: HP:0004756
- **Fibrilação atrial** — HPO: HP:0005110
- **Intervalo QT encurtado** — HPO: HP:0012232
- **Onda J** — HPO: HP:0012272
- **Morte cardíaca súbita** — HPO: HP:0001645
- **Intervalo PR prolongado** — HPO: HP:0012248
- **Palpitações** — HPO: HP:0001962
- **Intervalo QT prolongado** — HPO: HP:0001657
- **Pré-síncope** — HPO: HP:0031972
- **Taquicardia supraventricular com via mediada por conexão acessória** — HPO: HP:0011688
- **Bloqueio de ramo** — HPO: HP:0011710

## Genes associados (22)

- **SCN3B** — Sodium channel regulatory subunit beta-3 [Candidate gene tested in]
  - Função: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (volta
- **ABCC9** — ATP-binding cassette sub-family C member 9 [Candidate gene tested in]
  - Função: Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulati
- **SEMA3A** — Semaphorin-3A [Disease-causing germline mutation(s) in]
  - Função: Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth
- **KCNJ8** — ATP-sensitive inward rectifier potassium channel 8 [Candidate gene tested in]
  - Função: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28
- **SCN10A** — Sodium channel protein type 10 subunit alpha [Candidate gene tested in]
  - Função: Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across
- **KCNE3** — Potassium voltage-gated channel subfamily E member 3 [Candidate gene tested in]
  - Função: Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta sub
- **CACNA2D1** — Voltage-dependent calcium channel subunit alpha-2/delta-1 [Candidate gene tested in]
  - Função: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role
- **KCND3** — A-type voltage-gated potassium channel KCND3 [Candidate gene tested in]
  - Função: Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, Pu
- **KCNE5** — Potassium voltage-gated channel subfamily E regulatory beta subunit 5 [Candidate gene tested in]
  - Função: Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel po
- **RANGRF** — Ran guanine nucleotide release factor [Candidate gene tested in]
  - Função: May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotid
- **GPD1L** — Glycerol-3-phosphate dehydrogenase 1-like protein [Candidate gene tested in]
  - Função: Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, ma
- **CACNB2** — Voltage-dependent L-type calcium channel subunit beta-2 [Candidate gene tested in]
  - Função: Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage depende
- **AKAP9** — A-kinase anchor protein 9 [Candidate gene tested in]
  - Função: Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15
- **CACNA1C** — Voltage-dependent L-type calcium channel subunit alpha-1C [Disease-causing germline mutation(s) in]
  - Função: Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, Pub
- **SCNN1A** — Epithelial sodium channel subunit alpha [Disease-causing germline mutation(s) in]
  - Função: This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, P

## Ensaios clínicos ativos (13)

- **NCT03775954** [RECRUITING]: Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise — https://clinicaltrials.gov/study/NCT03775954
- **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
- **NCT05643209** [RECRUITING]: Brugada Syndrome Substrate Characterization and Ablation — https://clinicaltrials.gov/study/NCT05643209
- **NCT06988189** [RECRUITING]: Unmasking Concealed Arrhythmia Syndromes — https://clinicaltrials.gov/study/NCT06988189
- **NCT06647927** [RECRUITING]: GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis — https://clinicaltrials.gov/study/NCT06647927
- **NCT05521451** [RECRUITING]: Clinical Cohort Study - TRUST — https://clinicaltrials.gov/study/NCT05521451
- **NCT05283759** [RECRUITING]: UZ Brussel HRMC Registry of Brugada Syndrome — https://clinicaltrials.gov/study/NCT05283759
- **NCT02413450** [ENROLLING_BY_INVITATION]: Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias — https://clinicaltrials.gov/study/NCT02413450
- **NCT05685134** [ACTIVE_NOT_RECRUITING]: Epicardial Radiofrequency Catheter Ablation in Patients With Brugada Syndrome — https://clinicaltrials.gov/study/NCT05685134
- **NCT04257994** [ACTIVE_NOT_RECRUITING]: Distribution of Cell-cell Junction Proteins in Arrhythmic Disorders — https://clinicaltrials.gov/study/NCT04257994

## Doenças relacionadas (por similaridade fenotípica)

- [Miocardiopatia dilatada isolada familiar](https://raras.org/doenca/miocardiopatia-dilatada-isolada-familiar) — ORPHA:154 — 15 sintomas em comum
- [Cardiomiopatia arritmogênica hereditária](https://raras.org/doenca/247) — ORPHA:247 — 14 sintomas em comum
- [Cardiomiopatia arritmogênica isolada hereditária](https://raras.org/doenca/cardiomiopatia-arritmogenica-isolada-hereditaria) — ORPHA:217656 — 13 sintomas em comum
- [Taquicardia ventricular polimórfica catecolaminérgica](https://raras.org/doenca/taquicardia-ventricular-polimorfica-catecolaminergica) — ORPHA:3286 — 12 sintomas em comum
- [Fibrilação atrial hereditária](https://raras.org/doenca/334) — ORPHA:334 — 12 sintomas em comum
- [Síndrome do QT longo de Romano-Ward](https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward) — ORPHA:101016 — 11 sintomas em comum
- [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 11 sintomas em comum
- [Síndrome QT curto congênito](https://raras.org/doenca/sindrome-qt-curto-congenito) — ORPHA:51083 — 10 sintomas em comum
- [Comunicação interatrial](https://raras.org/doenca/comunicacao-interatrial) — ORPHA:1478 — 10 sintomas em comum
- [Síndrome do nó sinusal doente hereditária](https://raras.org/doenca/sindrome-do-no-sinusal-doente-hereditaria) — ORPHA:166282 — 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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