Pular para o conteúdo
Estenose primária da veia pulmonar
ORPHA:642071CID-10 · Q26.8CID-11 · LA86.3DOENÇA RARA
Também conhecida comoPPVS
Sinônimos clínicos: PPVS

Condição rara caracterizada pelo estreitamento das veias pulmonares sem causa aparente, dificultando o fluxo sanguíneo do pulmão para o coração. Pode levar à hipertensão pulmonar e insuficiência cardíaca.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 30/09/2026
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

A estenose primária da veia pulmonar (conhecida em inglês como Primary pulmonary vein stenosis) é uma condição clínica rara identificada na classificação internacional MONDO sob o código MONDO:0957433 e registrada na CID-10 como Q26.8.[1][2]

Causas genéticas

Até o momento, não constam genes associados especificados ou padrões de herança definidos nas bases de dados de referência para esta condição.[1][3]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

💬
EM LINGUAGEM SIMPLES

A estenose primária da veia pulmonar, também conhecida pela sigla PPVS, é uma afecção vascular rara que compromete os vasos que trazem o sangue dos pulmões para o coração. A literatura relata sua identificação principalmente na infância e em recém-nascidos prematuros, podendo exigir abordagens cirúrgicas e cateterismos específicos. No Brasil, a condição não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde. O suporte e o acompanhamento aos pacientes são realizados por meio de serviços de atenção especializada e reabilitação para doenças raras no SUS.

📋
Informacoes curadas por IA — podem conter imprecisoes

Condição rara caracterizada pelo estreitamento das veias pulmonares sem causa aparente, dificultando o fluxo sanguíneo do pulmão para o coração. Pode levar à hipertensão pulmonar e insuficiência cardíaca.

Publicações científicas
30 artigos
Último publicado: 2026 Mar 20
Medicamentos
20 com registro
CLORIDRATO DE AMBROXOL, ESPECBAC, TOSSLAB

Tem tratamento?

✓ 20 medicamentos específicos desta doença (registro ANVISA, FDA ou SUS/CEAF)
Ver detalhes, fases e interações →
CLORIDRATO DE AMBROXOLESPECBACTOSSLABFLUIBRONFLUISOLVANAMBROLSEDAVANMUCOXOLAN
🏥
SUS: Cobertura parcialScore: 15%
5 procedimentos SIGTAPCID-10: Q26.8
🇧🇷Dados SUS / DATASUS
EXAMES E PROCEDIMENTOS RELACIONADOS (5)
•
Cariótipo — bandas G, Q ou R
•
Pesquisa de microdeleções/microduplicações por FISH
•
Sequenciamento completo do exoma (WES)
•
Dosagem de alfa-fetoproteína
•
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico30PubMed
Últimos 10 anos22publicações
Pico20215 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Estenose primária da veia pulmonar

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
22 papers (10 anos)
#1

Catheter and echocardiographic-focused management of primary pulmonary vein stenosis in premature infants: a single center 5-year experience.

Journal of perinatology : official journal of the California Perinatal Association2026 Mar 20

We describe the outcomes of pulmonary vein stenosis treatment in a cohort of premature infants using an assertive percutaneous management strategy with echocardiography as the primary method of surveillance. This retrospective study included fifteen premature infants (median 24 weeks gestational age) that underwent pulmonary vein intervention from 2018-2023. The primary outcome was patient survival rate, and the secondary outcome was pulmonary vein preservation rate. The estimated patient survival was 100% and 89% at 1 and 2 years after diagnosis. The pulmonary vein preservation rate was 88% and 83% at 1 and 2 years. Patients received a median of 4 echocardiograms between each cardiac catheterization and an average of 1 CT scan for every 1.5 years of observation. Pulmonary vein stenosis can be successfully managed with a percutaneous approach to pulmonary vein rehabilitation using echocardiography for surveillance, even in extremely premature infants.

#2

A Case of Incidentally Discovered Primary Pulmonary Vein Stenosis in an Adult.

Journal of thoracic imaging2026 Jan 01

Primary pulmonary vein stenosis (PPVS) in adults is rare and often incidentally detected on imaging. A 60-year-old man underwent chest CT for respiratory symptoms, revealing a localized reticulonodular opacity in the right upper lung field near the pulmonary hilum. Coronal and sagittal reconstructions demonstrated tortuous collateral veins bridging the right superior and inferior pulmonary veins. Mediastinal-window images confirmed severe stenosis of the proximal right superior pulmonary vein without evidence of external compression or congenital anomaly. As symptoms resolved spontaneously, conservative management was chosen. This case demonstrates that axial reticulonodular opacities can raise suspicion of PPVS, with multiplanar and mediastinal-window imaging enabling accurate diagnosis of this rare condition.

#3

Insights into the molecular mechanism of pulmonary vein stenosis in pediatric patients with congenital heart disease.

JTCVS open2025 Aug

Pediatric pulmonary vein stenosis (PVS) is associated with substantial morbidity and mortality for the subset of patients with recurrent or progressive disease. The molecular mechanisms underlying the development and trajectory of PVS remain unclear. This study characterizes the transcriptome of clinical and phenotypic subtypes of PVS. Bulk RNA sequencing analysis was performed on human pulmonary vein tissue samples obtained from surgical interventions for pediatric patients with PVS. Transcriptomic profiles were compared for primary versus postrepair PVS as well as aggressive versus nonaggressive clinical phenotypes. Principal component analysis was performed, the differential gene expression quantified, and pathway analysis conducted on the basis of Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Reactome. When we compared aggressive (Agg) primary pulmonary vein stenosis (PPVS) versus nonaggressive (NonAgg) PPVS, differences were noted in the genes associated in extracellular matrix regulation and PIEZO1, a mechanosensitive receptor present in endothelial cells. In addition, there were notable changes in cardiac muscle contractility, calcium handling, respiratory and energy metabolism. These results point to a potential mechanism for aggressive PPVS phenotype, attributable to an overexpression of PIEOZ1 in response to elevated shear stress, subsequent activation of intracellular signaling pathways, and leading to reduced contractility and intracellular calcium transients within cardiomyocytes. These results suggests that aggressive PPVS phenotype may be driven by an increase in PIEZO1 expression and subsequent changes in extracellular matrix production. The clinical and therapeutic relevance of PIEZO1 warrant further investigation.

#4

Long-term outcomes of individualised repair in patients with primary pulmonary vein stenosis.

Cardiology in the young2025 Feb 18

Primary pulmonary vein stenosis is a rare congenital heart condition and carries a poor prognosis. Various surgical techniques have been introduced to treat primary pulmonary vein stenosis. However, there is no consensus on the optimal approach. This study aimed to evaluate the outcomes of surgical treatment of primary pulmonary vein stenosis, identify the risk factors for pulmonary vein restenosis and reintervention, and determine the optimal strategy for primary pulmonary vein stenosis repair. From December 2008 to December 2023, 64 patients with primary pulmonary vein stenosis undergoing surgical repair in our institution were included [non-sutureless group, n = 42; sutureless group, n = 22]. The Cox proportional hazard model was used to identify risk factors for pulmonary vein restenosis and pulmonary vein restenosis-related reintervention. There were three in-hospital deaths and one late death. The survival rates at 1, 5, and 15 years were 91.9%, 84.2%, and 69.8%, respectively, in the whole cohort. Compared with the non-sutureless group, the sutureless group did not significantly improve the long-term survival of primary pulmonary vein stenosis patients (P = 0.484). Pulmonary vein restenosis occurred in 15 patients. Multivariable analysis showed that Involvement of the left inferior pulmonary vein (P < 0.001) was the only independent risk factor for pulmonary vein restenosis, while sutureless repair (P = 0.037) was a protective factor. Pulmonary vein restenosis-related reintervention occurred in 12 patients. On multivariate analysis, three or four pulmonary veins involvement (P = 0.001) and preoperative severity score exceeding 5 (P = 0.050) were found to be independent risk factors associated with pulmonary vein restenosis-related reintervention; however, sutureless repair (P = 0.021) was a protective factor. Management of infants with primary pulmonary vein stenosis is challenging. Surgical repair of primary pulmonary vein stenosis can be safely achieved using different techniques, with similar long-term mortality. Compared with non-sutureless repair, sutureless repair was significantly associated with decreased pulmonary vein restenosis and decreased pulmonary vein restenosis-related reintervention, respectively. Preoperative severity score exceeding 5, 3, or 4 pulmonary veins involvement, and left inferior pulmonary vein involvement are independent risk factors for adverse outcomes.

#5

Patient-specific 3D in vitro modeling and fluid dynamic analysis of primary pulmonary vein stenosis.

Frontiers in cardiovascular medicine2024

Primary pulmonary vein stenosis (PVS) is a rare congenital heart disease that proves to be a clinical challenge due to the rapidly progressive disease course and high rates of treatment complications. PVS intervention is frequently faced with in-stent restenosis and persistent disease progression despite initial venous recanalization with balloon angioplasty or stenting. Alterations in wall shear stress (WSS) have been previously associated with neointimal hyperplasia and venous stenosis underlying PVS progression. Thus, the development of patient-specific three-dimensional (3D) in vitro models is needed to further investigate the biomechanical outcomes of endovascular and surgical interventions. In this study, deidentified computed tomography images from three patients were segmented to generate perfusable phantom models of pulmonary veins before and after catheterization. These 3D reconstructions were 3D printed using a clear resin ink and used in a benchtop experimental setup. Computational fluid dynamic (CFD) analysis was performed on models in silico utilizing Doppler echocardiography data to represent the in vivo flow conditions at the inlets. Particle image velocimetry was conducted using the benchtop perfusion setup to analyze WSS and velocity profiles and the results were compared with those predicted by the CFD model. Our findings indicated areas of undesirable alterations in WSS before and after catheterization, in comparison with the published baseline levels in the healthy in vivo tissues that may lead to regional disease progression. The established patient-specific 3D in vitro models and the developed in vitro-in silico platform demonstrate great promise to refine interventional approaches and mitigate complications in treating patients with primary PVS.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC24 artigos no totalmostrando 22

2026

Catheter and echocardiographic-focused management of primary pulmonary vein stenosis in premature infants: a single center 5-year experience.

Journal of perinatology : official journal of the California Perinatal Association
2026

A Case of Incidentally Discovered Primary Pulmonary Vein Stenosis in an Adult.

Journal of thoracic imaging
2025

Insights into the molecular mechanism of pulmonary vein stenosis in pediatric patients with congenital heart disease.

JTCVS open
2025

Long-term outcomes of individualised repair in patients with primary pulmonary vein stenosis.

Cardiology in the young
2024

Patient-specific 3D in vitro modeling and fluid dynamic analysis of primary pulmonary vein stenosis.

Frontiers in cardiovascular medicine
2023

Combination Chemotherapy in Severe Pulmonary Vein Stenosis-A Case Series.

Children (Basel, Switzerland)
2022

Pulmonary vein stenosis: Anatomic considerations, surgical management, and outcomes.

The Journal of thoracic and cardiovascular surgery
2021

Role of 3D reconstructed images in primary pulmonary vein stenosis.

Indian journal of thoracic and cardiovascular surgery
2021

Thoracic Multidetector Computed Tomography Angiography of Primary Pulmonary Vein Stenosis in Children: Evaluation of Characteristic Extravascular Findings.

Journal of thoracic imaging
2021

Primary Pulmonary Vein Stenosis: A New Look at a Rare but Challenging Disease.

NeoReviews
2022

Clinical Outcomes, Predictors, and Surgical Management of Primary Pulmonary Vein Stenosis.

The Annals of thoracic surgery
2021

Primary pulmonary vein stenosis during infancy: state of the art review.

Journal of perinatology : official journal of the California Perinatal Association
2021

Primary pulmonary vein stenosis among premature infants with single-vessel disease.

Journal of perinatology : official journal of the California Perinatal Association
2020

Double-Orifice Mitral Valve Associated with Bicuspid Aortic Valve and Primary Pulmonary Vein Stenosis.

CASE (Philadelphia, Pa.)
2020

Commentary: Management outcomes of primary pulmonary vein stenosis: What we know now and what we can expect in the future.

The Journal of thoracic and cardiovascular surgery
2020

Management outcomes of primary pulmonary vein stenosis.

The Journal of thoracic and cardiovascular surgery
2018

[Primary Pulmonary Vein Stenosis Developed after Bidirectional Glenn Procedure;Report of Two Cases].

Kyobu geka. The Japanese journal of thoracic surgery
2017

Primary Pulmonary Vein Stenosis: Outcomes, Risk Factors, and Severity Score in a Multicentric Study.

The Annals of thoracic surgery
2015

Pulmonary Vein Stenosis in a Newborn: A Commonly Overlooked Diagnosis.

Case reports in cardiology
2015

Evaluation of Primary Pulmonary Vein Stenosis in Children: Comparison of Radionuclide Perfusion Lung Scan and Angiography.

AJR. American journal of roentgenology
2015

Primary pulmonary vein stenosis: Can we expect different results?

The Journal of thoracic and cardiovascular surgery
2015

Surgical repair for primary pulmonary vein stenosis: Single-institution, midterm follow-up.

The Journal of thoracic and cardiovascular surgery
Ver todos os 24 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Estenose primária da veia pulmonar.

É de uma associação que acompanha esta doença? Fale com a gente →

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma doença vascular congênita rara catalogada sob o código ORPHA:642071 e conhecida pela sigla PPVS. A literatura científica aborda seu diagnóstico e tratamento em recém-nascidos, bebês e eventualmente adultos.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 5 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org↑

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (2026). Estenose primária da veia pulmonar. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/estenose-primaria-da-veia-pulmonar

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Estenose primária da veia pulmonar

ORPHA:642071 · MONDO:0957433
🇧🇷 Brasil SUS
SIGTAP
5 procedimentos
Geral
CID-10
Q26.8 · Outras malformações congênitas das grandes veias
CID-11
MedGen
UMLS
C0265915
EuropePMC
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Rara