# Síndrome do QT longo de Romano-Ward

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

## Identificadores

- **ORPHA**: 101016 — https://www.orpha.net/en/disease/detail/101016
- **CID-10**: I45.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O síndrome de Romano-Ward (RWS) é uma variante autossómica dominante do síndrome QT longo (LQTS, ver este termo), caracterizada por episódios de síncope e anomalias eletrocardiográficas (prolongamento do intervalo QT, e anomalias onda T e taquicardia ventricular torsade de pointes (TdP)).

## Epidemiologia e herança

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

## Sinais e sintomas (141 fenótipos HPO)

- **Entalhe antegonial da mandíbula** — HPO: HP:0003779
- **Anemia ferropriva** — HPO: HP:0001891
- **Deficiência auditiva neurossensorial profunda** — HPO: HP:0011476
- **Mal-estar pós-esforço** — HPO: HP:0030973
- **Arritmia** — HPO: HP:0011675
- **Perda de consciência** — HPO: HP:0007185
- **Onda T entalhada** — HPO: HP:0034303
- **Deficiência auditiva neurossensorial bilateral** — HPO: HP:0008619
- **Sindactilia dos dedos 2-3 do pé** — HPO: HP:0004691
- **Ponte nasal ampla** — HPO: HP:0000431
- **Anormalidade da dentição** — HPO: HP:0000164
- **Fraqueza muscular** — HPO: HP:0001324
- **Formato facial anormal** — HPO: HP:0001999
- **Cardiomiopatia dilatada** — HPO: HP:0001644
- **Atraso de crescimento** — HPO: HP:0001510
- **Escafocefalia** — HPO: HP:0030799
- **Anormalidade da cor dentária** — HPO: HP:0011073
- **Fraqueza flácida episódica** — HPO: HP:0003752
- **Hipoplasia renal** — HPO: HP:0000089
- **Paralisia hipercalêmica periódica** — HPO: HP:0007215
- **Extrassístoles ventriculares polimórficas e politópicas** — HPO: HP:0006696
- **Hiperaldosteronismo** — HPO: HP:0000859
- **Disfunção tubular renal** — HPO: HP:0000124
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758
- **Miocardite** — HPO: HP:0012819
- **Deficiência auditiva neurossensorial congênita** — HPO: HP:0008527
- **Flutter ventricular** — HPO: HP:0011841
- **Sindactilia** — HPO: HP:0001159
- **Imunodeficiência** — HPO: HP:0002721
- **Morte cardíaca súbita abortada** — HPO: HP:0031628
- **Deficiência intelectual** — HPO: HP:0001249
- **Tetralogia de Fallot** — HPO: HP:0001636
- **Atraso global do desenvolvimento** — HPO: HP:0001263
- **Taquicardia ventricular** — HPO: HP:0004756
- **Hipotermia** — HPO: HP:0002045
- **Infecções recorrentes** — HPO: HP:0002719
- **Sindactilia cutânea** — HPO: HP:0012725
- **Artéria umbilical única** — HPO: HP:0001195
- **Bronquite** — HPO: HP:0012387
- **Hipotireoidismo** — HPO: HP:0000821
- _...e mais 101 sintomas. Ver https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward._

## Genes associados (21)

- **AKAP9** — A-kinase anchor protein 9 [Disease-causing germline mutation(s) (loss of function) 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
- **ALG10B** — Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B [Candidate gene tested in]
  - Função: Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine
- **KCNJ2** — Inward rectifier potassium channel 2 [Disease-causing germline mutation(s) 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:36149965, PubMed:7590287, PubMed:9490857). Their volt
- **NOS1AP** — Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein [Modifying germline mutation in]
  - Função: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin fun
- **CALM2** — Calmodulin-2 [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
- **ANK2** — Ankyrin-2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In ske
- **KCNQ1** — Potassium voltage-gated channel subfamily KQT member 1 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, st
- **SNTA1** — Alpha-1-syntrophin [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix v
- **KCNJ5** — G protein-activated inward rectifier potassium channel 4 [Disease-causing germline mutation(s) (loss of function) 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. Their voltage dependence is regulated by the concentration o
- **CALM3** — Calmodulin-3 [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
- **SCN5A** — Sodium channel protein type 5 subunit alpha [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated s
- **TBX5** — T-box transcription factor TBX5 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation (PubMed:25725155, PubMed:25963046, PubMed:26917986, PubMed:2703564
- **KCNH2** — Voltage-gated inwardly rectifying potassium channel KCNH2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:185594
- **CAV3** — Caveolin-3 [Disease-causing germline mutation(s) (gain of function) in]
  - Função: May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium cha
- **KCNE2** — Potassium voltage-gated channel subfamily E member 2 [Disease-causing germline mutation(s) (loss of function) 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

## Medicamentos em desenvolvimento (5)

- RANOLAZINE — Fase Phase 2 (Sodium channel protein type V alpha subunit blocker)
- IVACAFTOR — Fase Phase 2 (Cystic fibrosis transmembrane conductance regulator positive modulator)
- LUMACAFTOR — Fase Phase 2 (Cystic fibrosis transmembrane conductance regulator stabiliser)
- PRINABEREL — Fase Phase 1 (Estrogen receptor beta agonist)
- DOFETILIDE — Fase Phase 1 (HERG blocker)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019171

## Ensaios clínicos ativos (2)

- **NCT04715256** [UNKNOWN]: Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients. — https://clinicaltrials.gov/study/NCT04715256
- **NCT03642405** [UNKNOWN]: Drug-induced Repolarization ECG Changes — https://clinicaltrials.gov/study/NCT03642405

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome QT longo familiar congênito](https://raras.org/doenca/sindrome-qt-longo-familiar-congenito) — ORPHA:768 — 141 sintomas em comum
- [Paralisia periódica](https://raras.org/doenca/paralisia-periodica) — ORPHA:206976 — 82 sintomas em comum
- [Paralisia periódica genética](https://raras.org/doenca/paralisia-periodica-genetica) — ORPHA:371433 — 82 sintomas em comum
- [Síndrome Andersen-Tawil](https://raras.org/doenca/sindrome-andersen-tawil) — ORPHA:37553 — 76 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 14](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-14) — ORPHA:262110 — 34 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 33 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 32 sintomas em comum
- [Síndrome Dubowitz](https://raras.org/doenca/sindrome-dubowitz) — ORPHA:235 — 32 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 32 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-1) — ORPHA:262001 — 32 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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**Citação sugerida**: Raras.org — Síndrome do QT longo de Romano-Ward. Disponível em: https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward
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