# Tetralogia de Fallot

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

## Identificadores

- **ORPHA**: 3303 — https://www.orpha.net/en/disease/detail/3303
- **CID-10**: Q21.3
- **OMIM**: OMIM:187500 — https://omim.org/entry/187500

## Descrição clínica

A Tetralogia de Fallot é uma condição cardíaca congênita (presente desde o nascimento) que se caracteriza por quatro problemas no coração: um buraco na parede que separa os dois ventrículos (as câmaras de baixo do coração), um estreitamento na saída do ventrículo direito (a câmara que bombeia o sangue para os pulmões), a artéria aorta (o principal vaso que leva sangue para o corpo) está mal posicionada, nascendo por cima do buraco entre os ventrículos, e um aumento do músculo do ventrículo direito.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Multigenic/multifactorial

## Sinais e sintomas (13 fenótipos HPO)

- **Dolicocefalia** — HPO: HP:0000268 (Frequente (79-30%))
- **Testa larga** — HPO: HP:0000337 (Muito frequente (99-80%))
- **Fossa pré-auricular** — HPO: HP:0004467 (Frequente (79-30%))
- **Morfologia nasal anormal** — HPO: HP:0005105 (Muito frequente (99-80%))
- **Braquidactilia** — HPO: HP:0001156 (Muito frequente (99-80%))
- **Retardo do crescimento intrauterino** — HPO: HP:0001511 (Muito frequente (99-80%))
- **Criptorquidia** — HPO: HP:0000028 (Frequente (79-30%))
- **Cristas supraorbitais subdesenvolvidas** — HPO: HP:0009891 (Frequente (79-30%))
- **Tetralogia de Fallot** — HPO: HP:0001636 (Frequente (79-30%))
- **Proptose** — HPO: HP:0000520 (Frequente (79-30%))
- **Borda do vermelhão fina** — HPO: HP:0000233 (Frequente (79-30%))
- **Clinodactilia do quinto dedo** — HPO: HP:0004209 (Muito frequente (99-80%))
- **Herança autossômica dominante** — HPO: HP:0000006

## Genes associados (13)

- **GATA6** — Transcription factor GATA-6 [Major susceptibility factor in]
  - Função: Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric e
- **NKX2-6** — Homeobox protein Nkx-2.6 [Major susceptibility factor in]
  - Função: Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development
- **GATA5** — Transcription factor GATA-5 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Transcription factor required during cardiovascular development (PubMed:23289003). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (By similarity)
- **GATA4** — Transcription factor GATA-4 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation
- **TBX1** — T-box transcription factor TBX1 [Candidate gene tested in]
  - Função: Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle de
- **KDR** — Vascular endothelial growth factor receptor 2 [Major susceptibility factor in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and emb
- **ZFPM2** — Zinc finger protein ZFPM2 [Major susceptibility factor in]
  - Função: Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cof
- **GJA5** — Gap junction alpha-5 protein [Major susceptibility factor in]
  - Função: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell
- **CITED2** — Cbp/p300-interacting transactivator 2 [Major susceptibility factor in]
  - Função: Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimu
- **GDF1** — Embryonic growth/differentiation factor 1 [Major susceptibility factor in]
  - Função: May mediate cell differentiation events during embryonic development
- **NKX2-5** — Homeobox protein Nkx-2.5 [Candidate gene tested in]
  - Função: Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By
- **FLT4** — Vascular endothelial growth factor receptor 3 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiova
- **JAG1** — Protein jagged-1 [Disease-causing germline mutation(s) in]
  - Função: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). S

## Ensaios clínicos ativos (20)

- **NCT06932081** [RECRUITING]: Adult Congenital Heart Disease International EValuation of the Effectiveness of SGLT2i Registry — https://clinicaltrials.gov/study/NCT06932081
- **NCT05122962** [RECRUITING]: Pathophysiologic Mechanism for Arrhythmias and Impaired Aerobic Capacity in Tetralogy of Fallot and Other Congenital Heart Diseases — https://clinicaltrials.gov/study/NCT05122962
- **NCT06771687** [RECRUITING]: High Intensity Interval Training in Patients With a Right Ventricle to Pulmonary Artery Conduit — https://clinicaltrials.gov/study/NCT06771687
- **NCT04713657** [RECRUITING]: Beta-blocker Administration for Cardiomyocyte Division — https://clinicaltrials.gov/study/NCT04713657
- **NCT06822400** [RECRUITING]: Investigation of Tetralogy of Fallot in Neonates — https://clinicaltrials.gov/study/NCT06822400
- **NCT06587165** [RECRUITING]: Quantifying New Heart Muscle Cells — https://clinicaltrials.gov/study/NCT06587165
- **NCT04106479** [RECRUITING]: NIRS in Congenital Heart Defects - Correlation With Echocardiography — https://clinicaltrials.gov/study/NCT04106479
- **NCT00243776** [RECRUITING]: Molecular and Cellular Characterization of Cardiac Tissue in Postnatal Development — https://clinicaltrials.gov/study/NCT00243776
- **NCT06668389** [RECRUITING]: Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial — https://clinicaltrials.gov/study/NCT06668389
- **NCT05809310** [RECRUITING]: Effects Branch PA Stenting d-TGA, ToF and TA — https://clinicaltrials.gov/study/NCT05809310

## Doenças relacionadas (por similaridade fenotípica)

- [Malformações cardíacas cono-truncais](https://raras.org/doenca/malformacoes-cardiacas-cono-truncais) — ORPHA:2445 — 12 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 8 sintomas em comum
- [Síndrome de hipertelorismo SPECC1L-relacionado](https://raras.org/doenca/sindrome-de-hipertelorismo-specc1l-relacionado) — ORPHA:1519 — 8 sintomas em comum
- [Síndrome de perturbação do desenvolvimento intelectual-apneia do sono obstrutiva-dismorfia ligeira AHDC1-relacionada](https://raras.org/doenca/sindrome-de-perturbacao-do-desenvolvimento-intelectual-apneia-do-sono-obstrutiva-dismorfia-ligeira-ahdc1-relacionada) — ORPHA:412069 — 8 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 7 sintomas em comum
- [Duplicação parcial do cromossomo 20](https://raras.org/doenca/duplicacao-parcial-do-cromossomo-20) — ORPHA:262692 — 7 sintomas em comum
- [Monossomia 13q14](https://raras.org/doenca/monossomia-13q14) — ORPHA:1587 — 7 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 7 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 7 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-19) — ORPHA:261983 — 7 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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