# Hipertensão arterial pulmonar

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

## Identificadores

- **ORPHA**: 182090 — https://www.orpha.net/en/disease/detail/182090
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A hipertensão arterial pulmonar (HAP) é um grupo de doenças caracterizadas por pressão média da artéria pulmonar >20 mmHg e resistência arterial pulmonar elevada, levando à insuficiência cardíaca direita. A HAP é progressiva e potencialmente fatal. A HAP pode ser idiopática e/ou familiar, ter características evidentes de envolvimento venoso/capilar (doença veno-oclusiva pulmonar, PVOD/hemangiomatose capilar pulmonar, HCP), induzida por medicamento ou toxina (HAP induzida por medicamento ou toxina), ou associada a outras doenças como cardiopatia congênita, doença do tecido conjuntivo, HIV, esquistossomose, hipertensão portal (HAP associada a outras doenças).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Not applicable

## Sinais e sintomas (95 fenótipos HPO)

- **Insuficiência cardíaca congestiva** — HPO: HP:0001635
- **Hipercoagulabilidade** — HPO: HP:0100724
- **Abscesso cerebral** — HPO: HP:0030049
- **Acidente vascular cerebral** — HPO: HP:0001297
- **Defeito do canal atrioventricular** — HPO: HP:0006695
- **Concentração elevada de proteína C-reativa circulante** — HPO: HP:0011227
- **Anemia ferropriva** — HPO: HP:0001891
- **Defeito do septo atrial** — HPO: HP:0001631
- **Taquicardia supraventricular** — HPO: HP:0004755
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Sibilos** — HPO: HP:0030828
- **Hiperuricemia** — HPO: HP:0002149
- **Tetralogia de Fallot** — HPO: HP:0001636
- **Janela aortopulmonar** — HPO: HP:0011604
- **Shunt da direita para a esquerda** — HPO: HP:0001694
- **Persistência do canal arterial** — HPO: HP:0001643
- **Voz rouca** — HPO: HP:0001609
- **Baqueteamento digital** — HPO: HP:0001217
- **Edema generalizado** — HPO: HP:0007430
- **Edema periférico** — HPO: HP:0012398
- **Anemia microcítica hipocrômica** — HPO: HP:0004840
- **Desconforto respiratório** — HPO: HP:0002098
- **Hipoxemia** — HPO: HP:0012418
- **Intolerância ao exercício** — HPO: HP:0003546
- **Endocardite bacteriana** — HPO: HP:0006689
- **Nível anormal de peptídeo natriurético tipo B** — HPO: HP:0031138
- **Defeito do septo ventricular** — HPO: HP:0001629
- **Insuficiência renal** — HPO: HP:0000083
- **Shunt da esquerda para a direita** — HPO: HP:0012382
- **Arritmia supraventricular** — HPO: HP:0005115
- **Aumento do volume corpuscular médio** — HPO: HP:0005518
- **Arritmia ventricular** — HPO: HP:0004308
- **Vertigem** — HPO: HP:0002321
- **Sangramento anormal** — HPO: HP:0001892
- **Refluxo hepatojugular** — HPO: HP:0030849
- **Taquicardia ventricular** — HPO: HP:0004756
- **Distensão abdominal** — HPO: HP:0003270
- **Ascite** — HPO: HP:0001541
- **Anormalidade do fígado** — HPO: HP:0001392
- **Letargia** — HPO: HP:0001254
- _...e mais 55 sintomas. Ver https://raras.org/doenca/hipertensao-arterial-pulmonar._

## Genes associados (12)

- **CAV1** — Caveolin-1 [Disease-causing germline mutation(s) in]
  - Função: May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the
- **ENG** — Endoglin [Candidate gene tested in]
  - Função: Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (P
- **TBX4** — T-box transcription factor TBX4 [Candidate gene tested in]
  - Função: Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs
- **SOX17** — Transcription factor SOX-17 [Candidate gene tested in]
  - Função: Acts as a transcription regulator that binds target promoter DNA (PubMed:33952808). Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt s
- **EIF2AK4** — eIF-2-alpha kinase GCN2 [Candidate gene tested in]
  - Função: Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:2532
- **ACVRL1** — Activin receptor type-1-like [Candidate gene tested in]
  - Função: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and tw
- **GDF2** — Growth/differentiation factor 2 [Candidate gene tested in]
  - Função: Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/
- **ATP13A3** — Polyamine-transporting ATPase 13A3 [Disease-causing germline mutation(s) in]
  - Função: ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol
- **KCNK3** — Potassium channel subfamily K member 3 [Disease-causing germline mutation(s) in]
  - Função: K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where ou
- **BMPR2** — Bone morphogenetic protein receptor type-2 [Disease-causing germline mutation(s) in]
  - Função: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autopho
- **CAPNS1** — Calpain small subunit 1 [Disease-causing germline mutation(s) in]
  - Função: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for em
- **SMAD9** — SMAD family member 9 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD)

## Ensaios clínicos ativos (36)

- **NCT07073820** [RECRUITING]: A Study to Learn About the Study Medicine (Called PF-07868489) in People With Pulmonary Arterial Hypertension Who Have Previously Participated in a Clinical Study With PF-07868489 — https://clinicaltrials.gov/study/NCT07073820
- **NCT07318597** [RECRUITING]: Phase 2 Study of REGN13335 in Adult Participants With Pulmonary Arterial Hypertension (PAH) — https://clinicaltrials.gov/study/NCT07318597
- **NCT07218029** [RECRUITING]: A Clinical Study of Sotatercept (MK-7962) in People With Pulmonary Arterial Hypertension (MK-7962-038) — https://clinicaltrials.gov/study/NCT07218029
- **NCT05967299** [RECRUITING]: Study of Intravenous ZMA001 in Healthy Subjects — https://clinicaltrials.gov/study/NCT05967299
- **NCT05587712** [RECRUITING]: Study to Evaluate Sotatercept (MK-7962) in Children With Pulmonary Arterial Hypertension (PAH) (MK-7962-008) — https://clinicaltrials.gov/study/NCT05587712
- **NCT01712620** [RECRUITING]: Spironolactone for Pulmonary Arterial Hypertension — https://clinicaltrials.gov/study/NCT01712620
- **NCT07175038** [RECRUITING]: A Study of ROC-101 in Patients With Pulmonary Arterial Hypertension (PAH) and Pulmonary Hypertension Associated With Interstitial Lung Disease (ILD-PH) (ROCSTAR STUDY) — https://clinicaltrials.gov/study/NCT07175038
- **NCT01730092** [RECRUITING]: Natural History Study of Biomarkers in Pulmonary Arterial Hypertension — https://clinicaltrials.gov/study/NCT01730092
- **NCT05179876** [RECRUITING]: A Study Providing Treatment Access in Participants With Pulmonary Hypertension Completing a Parent Study and Having no Other Option — https://clinicaltrials.gov/study/NCT05179876
- **NCT07140484** [RECRUITING]: Sotatercept in Pulmonary Arterial Hypertension — https://clinicaltrials.gov/study/NCT07140484

## Doenças relacionadas (por similaridade fenotípica)

- [Hipertensão arterial pulmonar idiopática/hereditária](https://raras.org/doenca/hipertensao-arterial-pulmonar-idiopaticahereditaria) — ORPHA:422 — 95 sintomas em comum
- [Síndrome Eisenmenger](https://raras.org/doenca/sindrome-eisenmenger) — ORPHA:97214 — 58 sintomas em comum
- [Hipertensão arterial pulmonar hereditária](https://raras.org/doenca/hipertensao-arterial-pulmonar-hereditaria) — ORPHA:275777 — 39 sintomas em comum
- [Comunicação interatrial](https://raras.org/doenca/comunicacao-interatrial) — ORPHA:1478 — 34 sintomas em comum
- [Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita](https://raras.org/doenca/anomalia-dos-grandes-vasos-aorta-arco-aortico-arterias-pulmonares-congenita) — ORPHA:98724 — 34 sintomas em comum
- [Defeito do canal auriculoventricular](https://raras.org/doenca/defeito-do-canal-auriculoventricular) — ORPHA:98722 — 24 sintomas em comum
- [Defeito do septo atrial, tipo ostium primum](https://raras.org/doenca/defeito-do-septo-atrial-tipo-ostium-primum) — ORPHA:99106 — 22 sintomas em comum
- [Defeito do septo atrial, tipo ostium secundum](https://raras.org/doenca/defeito-do-septo-atrial-tipo-ostium-secundum) — ORPHA:99103 — 21 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 21 sintomas em comum
- [Malformação tricúspide, congênita](https://raras.org/doenca/malformacao-tricuspide-congenita) — ORPHA:98721 — 20 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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