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Displasia da válvula pulmonar
ORPHA:99054CID-10 · Q22.1DOENÇA RARA

Estenose pulmonar é uma obstrução anatômica (estenose) do fluxo sanguíneo do ventrículo direito do coração para a artéria pulmonar. Pode ser dinâmica, quando o tamanho da restrição do fluxo varia, ou fixa, quando a obstrução é constante.

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Introdução

O que você precisa saber de cara

📋

Condição congênita rara que causa estreitamento da válvula pulmonar, dificultando o fluxo sanguíneo do coração para os pulmões. Pode variar de leve a grave, impactando a capacidade do coração de bombear oxigênio para o corpo.

Pesquisas ativas
5 ensaios
26 total registrados no ClinicalTrials.gov
Publicações científicas
241 artigos
Último publicado: 2026 Feb
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q22.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
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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 histórico241PubMed
Últimos 10 anos57publicações
Pico20218 papers
Linha do tempo
2026Hoje · 2026🧪 1984Primeiro ensaio clínico📈 2021Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

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Diagnóstico

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Tratamento e manejo

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·Pré-clínico18
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 18 ensaios
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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26 ensaios clínicos encontrados, 5 ativos.

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Publicações mais relevantes

Timeline de publicações
57 papers (10 anos)
#1

Severe Congenital Pulmonary Valve Stenosis Diagnosed in Adulthood: A Case Report.

Cureus2026 Feb

Pulmonary valve stenosis is a congenital heart disease that is usually diagnosed during childhood, while presentation in adulthood is uncommon and may lead to delayed diagnosis. We report the case of a 21-year-old patient with no significant medical history who presented with a six-month history of exertional dyspnea and constrictive chest pain. Electrocardiography showed right axis deviation with signs of right ventricular hypertrophy, and chest radiography revealed dilatation of the left pulmonary artery. Transthoracic echocardiography demonstrated severe valvular pulmonary stenosis with a peak velocity of 4.53 m/s and a maximum systolic gradient of 82.23 mmHg, associated with right ventricular hypertrophy and preserved systolic function, without evidence of pulmonary hypertension. Computed tomography pulmonary angiography confirmed focal post-stenotic dilatation of the left pulmonary artery. After a multidisciplinary discussion, balloon pulmonary valvuloplasty was recommended. This case highlights the importance of considering congenital pulmonary valve stenosis in young adults presenting with exertional symptoms and underscores the challenges of access to advanced interventional therapies in resource-limited settings.

#2

Persistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.

Journal of the Saudi Heart Association2026

Double dorsal aorta is a rare congenital embryological vascular anomaly resulting from incomplete regression and fusion of the dorsal aortae during embryogenesis. This anomaly could be associated with various other congenital heart defects (CHDs), including transposition of the great arteries, ventricular septal defect (VSD), persistent truncus arteriosus, tetralogy of Fallot (TOF), and Coarctation of the aorta (COA). This is a 9 year old girl with complex congenital heart disease and a double dorsal aorta who underwent a single ventricle palliation and this anomaly was detected during pre Fontan evaluation. She presented at age of 2 weeks with cyanosis, initial diagnosis was situs inversus, Dextrocarida, DORV with malposed great arteries, subpulmonary and valvular pulmonary stenosis, Patent ductal arteriosus and left superior vena cava. Patient was discussed with cardiothoracic team and Underwent left bidirectional Glenn at 10 months of age (2017) During pre-Fontan catheterization (June 2021) → incidental discovery of double descending (double dorsal) aorta, subsequently confirmed by CTA Fontan Completion: Deferred due to multiple severe comorbidities. Double dorsal aorta is an extremely rare embryologic vascular anomaly due to failure of fusion of the paired dorsal aortae. Although was asymptomatic, its identification is important in complex congenital heart disease because it may affect surgical planning and catheter based interventions. In this patient, the anomaly was detected incidentally during pre Fontan evaluation emphasizing the value of detailed preoperative imaging.

#3

Balloon pulmonary valvuloplasty as a palliative strategy for late presenting adolescents and adult patients with cyanotic congenital heart disease.

Indian heart journal2026 Jan 21

Management of late presenters with cyanotic congenital heart disease (CCHD) and reduced pulmonary blood flow is challenged by multi-system derangements from longstanding hypoxia in addition to anatomic factors. Balloon pulmonary valvuloplasty (BPV) is a potentially viable palliative option for selected patients with severely stenotic pulmonary valve and are unsuitable for definitive surgical repair METHODS: A retrospective chart review was conducted (2002-2024, age >12 years). BPV was considered for those with a significant component of valvular pulmonary stenosis (PS) on echocardiography. A strategy of stepwise dilation using progressively larger balloon sizes, andmonitoring pulmonary artery pressures between each dilation, was adapted. Thirty patients [TOF (n = 13), DORV/DILV (n = 7/2), single ventricle/Unbalanced AVCD (n = 3), and corrected transposition (n = 5)] with median age: 20.5 years (IQR: 14.0-26.8), weight: 49 kg (IQR: 44.1-57.7) underwent BPV. The fluoroscopy and procedure times were 17.8 min (IQR:12.7-25.7) and 71 ± 26 min (mean ± SD), respectively. The balloon-to-annulus ratio was 1.01 (0.96-1.2). Saturation improved significantly from 76.7 ± 9.6 % to 90.2 ± 4.4 %. Complications included transient arrhythmias in five patients and fatal re-perfusion pulmonary edema during repeat BPV in one. At a median follow-up of 51 months (IQR: 26.75-139.25 months), majority of patients demonstrated sustained symptomatic relief. Seven patients underwent corrective surgery, and four required repeat BPV. In a selected subgroup of anatomically suited patients with CCHD and PS, stepwise dilatation of the pulmonary valve resulted in improved oxygenation and symptomatic relief, which was sustained on follow-up, making it an attractive low-resource option for palliation, particularly in resource constrained LMIC settings.

#4

Coexistence of Severe Valvular Pulmonary Stenosis and Papillary Thyroid Carcinoma: A Rare Association or Coincidence?

Cureus2025 Sep

Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. Pulmonary valve stenosis (PVS), on the other hand, is a congenital valvular heart disease characterized by narrowing of the right ventricular outflow tract, which can lead to right-sided heart failure if severe. To date, there are no reported cases in the literature describing a co-occurrence of PTC and PVS in the same individual. Our patient was a 28-year-old male, a smoker with a five-pack-year history, who presented with a painless right neck swelling of five months duration. Physical examination revealed a firm, non-tender right cervical lymphadenopathy. Thyroid examination showed that the trachea was midline, thyroid was non-palpable, without tenderness, nodules, or bruit, and no signs of exophthalmos or proximal muscle weakness. Heart examination revealed a thrill, a normal first and second heart sounds, and a systolic crescendo-decrescendo murmur heard at the left upper sternal border. Jugular venous pressure (JVP) was not elevated. No signs of ascites, hepatomegaly, or lower limbs edema. The patient had no syndromic features. Laboratory wise was unremarkable. In regard to imaging, neck ultrasound showed multiple enlarged heterogeneous rounded structures in the right cervical region, the largest measures 2.9 x 2.5 cm. The visualized parts of the thyroid gland appeared unremarkable. Computed tomography (CT) of the brain, chest, abdomen, and pelvis was unremarkable apart from cardiomegaly in the CT chest. Further assessment by echocardiography showed severe valvular pulmonary stenosis. An ultrasound-guided fine needle aspiration of the right cervical lymph node showed papillary thyroid carcinoma. A thorough literature review using PubMed revealed no documented cases of concurrent PTC and PVS, supporting the novelty of this case. While the possibility of a coincidental coexistence cannot be excluded, this unique case raises the possibility of a shared developmental or molecular pathway-such as dysregulation of the rat sarcoma (RAS)/mitogen-activated protein kinase (MAPK) signaling cascade-linking both conditions. While a coincidental occurrence remains plausible, the overlap with pathways implicated in RASopathies warrants further investigation. Multidisciplinary evaluation was critical in planning appropriate oncologic and cardiologic management. This case underscores a rare coexistence of papillary thyroid carcinoma and severe pulmonary valve stenosis in a young adult without any identifiable congenital syndrome. Although the association may be incidental, it prompts consideration of potential shared developmental or molecular mechanisms. Importantly, the presence of severe pulmonary stenosis has significant clinical implications, contributing to symptom burden and influencing the timing and selection of therapeutic interventions, including both cardiac and oncologic management strategies.

#5

Evolution of Clinical Features in Right Ventricular Outflow Tract Obstruction: Evidence From an Echocardiographic Database in China.

Reviews in cardiovascular medicine2025 Sep

Long-term right ventricular outflow tract dysfunction can lead to right and left heart failure. Nonetheless, current data on the clinical characteristics of the right ventricular outflow tract obstruction (RVOTO) in China remain limited. This study analyzed the evolving trends in the observed proportion, etiology, spectrum, and interventions for RVOTO over the past 18 years from a single-center echocardiographic database. A total of 10,234 RVOTO cases (17,451 records from 2003 to 2020) were included in the transthoracic echocardiography database in China. The RVOTO cases were divided into eight groups according to the different obstruction sites and disease types. Subsequently, RVOTO was categorized into three types: congenital, iatrogenic, and neither congenital nor iatrogenic. Moreover, congenital RVOTO was further classified into simple and complex congenital RVOTO. Next, we calculated the proportion of RVOTO patients who had received interventions. We analyzed the proportions of different types of RVOTO and the variation tendency. During 2003-2008, 2009-2014, and 2015-2020, the observed proportion of RVOTO cases in the total echocardiographic cases decreased (3.2%, 2.1% and 1.8%, respectively; p < 0.001); the proportion of RVOTO with a congenital etiology also reduced, though as the dominant cause; meanwhile, the proportion of simple congenital RVOTO increased (48.5%, 52.4% and 67.3%, respectively; p < 0.001). As the two most common types of RVOTO, the proportion and number of valvular pulmonary stenosis (PS) increased, while the proportion of Fallot cases decreased. The number of RVOTO cases receiving surgical or transcatheter intervention and experiencing intervention-related severe pulmonary regurgitation (PR) or residual peripheral PS increased, although with a low probability of reoperation. The clinical characteristics of RVOTO have undergone significant changes in China over the past two decades. After the RVOTO intervention, the increasing number of cases with severe PR or residual peripheral PS and a low possibility of reoperation signifies a future necessity for transcatheter pulmonary intervention.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC84 artigos no totalmostrando 57

2026

Severe Congenital Pulmonary Valve Stenosis Diagnosed in Adulthood: A Case Report.

Cureus
2026

Persistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.

Journal of the Saudi Heart Association
2026

Balloon pulmonary valvuloplasty as a palliative strategy for late presenting adolescents and adult patients with cyanotic congenital heart disease.

Indian heart journal
2025

Coexistence of Severe Valvular Pulmonary Stenosis and Papillary Thyroid Carcinoma: A Rare Association or Coincidence?

Cureus
2025

Evolution of Clinical Features in Right Ventricular Outflow Tract Obstruction: Evidence From an Echocardiographic Database in China.

Reviews in cardiovascular medicine
2025

Cardiac lymphoma causing severe pulmonary stenosis in a cat.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2024

Immediate and short-term outcome of balloon pulmonary valvuloplasty in neonatal critical pulmonary stenosis.

Annals of pediatric cardiology
2025

Minimally invasive cardiac surgery in congenital heart diseases: the new horizon.

Indian journal of thoracic and cardiovascular surgery
2024

Progressive colonic stenosis in an infant: Successful treatment with endoscopic balloon dilation.

JPGN reports
2024

Retroesophageal Left Brachiocephalic Vein with Right-Sided Aortic Arch in Tetralogy of Fallot: A Rare Venous Anomaly Demonstrated on Computed Tomography Angiography.

Methodist DeBakey cardiovascular journal
2025

Electrical substrate of the right ventricle in valvular pulmonary stenosis: Early observations from electrophysiology studies before pulmonary valve replacement.

Heart rhythm
2024

Clinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Advances in experimental medicine and biology
2024

Balanced chaos: a 55-year journey with unrepaired D-transposition of great arteries, ventricular septal defect, and subvalvular and valvular pulmonary stenosis.

European heart journal. Case reports
2024

Early Outcomes From a Multicenter Transcatheter Self-Expanding Pulmonary Valve Replacement Registry.

Journal of the American College of Cardiology
2024

Adult congenital heart disease care in a municipal public health system.

Cardiology in the young
2023

A case report of infective endocarditis in a 52-year-old female with unrepaired tricuspid atresia and d-transposition of the great arteries.

European heart journal. Case reports
2022

Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature.

Frontiers in pediatrics
2022

A hitherto unreported combination of pulmonary stenosis, single coronary artery anomaly, and coronary sinus to left atrial communication.

Journal of cardiac surgery
2022

Norwood procedure for hypoplastic left heart syndrome associated with valvular pulmonary stenosis.

Interactive cardiovascular and thoracic surgery
2022

Intracardiac Repair in Late Adolescent and Adult Tetralogy of Fallot - Early and Midterm Results from a Tertiary Care Centre.

Brazilian journal of cardiovascular surgery
2021

A Case of William's Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting.

Children (Basel, Switzerland)
2021

Percutaneous balloon pulmonary valvuloplasty in a young lady with coexisting repaired patent ductus arteriosus.

BMJ case reports
2021

Balloon valvuloplasty of valvular pulmonary stenosis in a neonatal foal.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2021

Single left coronary ostium with a prepulmonic right coronary artery course in a French Bulldog with congenital valvular pulmonary stenosis.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2020

Atrioventricular Discordance with Double-Outlet Right Ventricle in Mirror Imagery and Levocardia: A Very Rare Case Report.

Journal of cardiovascular echography
2021

Balloon pulmonary valvotomy in severe dysplastic pulmonary valve restenosis: A novel maneuver for stabilizing balloon positioning.

Annals of pediatric cardiology
2021

Simultaneous transthoracic intervention for multiple cardiac defects in children.

Translational pediatrics
2021

Supravalvular and Valvular Pulmonary Stenosis: Predictive Features and Responsiveness to Percutaneous Dilation.

Pediatric cardiology
2020

Successful balloon valvuloplasty using direct puncture of the heart for pentalogy of Cantrell with complete ectopia cordis, low birth weight, single ventricle and severe pulmonary stenosis.

Cardiology in the young
2020

Mechanism of the right ventricular reverse remodeling after balloon pulmonary valvuloplasty in patients with congenital pulmonary stenosis: A three-dimensional echocardiographic study.

Annals of pediatric cardiology
2020

Unconventional deployment of atrial septal occluder in a patient with atrial septal defect, dextrocardia, and interrupted inferior vena cava.

Cardiology in the young
2021

Effectiveness of evaluation by four-dimensional multidetector computed tomography on congenital unicuspid valvular pulmonary stenosis.

European heart journal. Cardiovascular Imaging
2020

Experience with balloon pulmonary valvuloplasty and predictors of outcome: a ten-year study.

Cardiology in the young
2020

Right Ventricular Growth and Function After Balloon Valvuloplasty for Critical Pulmonary Valve Stenosis in Infants and Neonates.

Pediatric cardiology
2019

Successful transcatheter pulmonary valve implantation in a dog: first clinical report.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2019

Real-Time Transthoracic Vector Flow Imaging of the Heart in Pediatric Patients.

Progress in pediatric cardiology
2019

Combined interventional procedure and cardiopulmonary bypass surgery in a dog with cor triatriatum dexter, patent foramen ovale, and pulmonary stenosis.

Journal of veterinary internal medicine
2019

The History of Noonan Syndrome.

Pediatric endocrinology reviews : PER
2019

Natural history of complex transposition of great arteries in an adult: a case report.

Cardiology in the young
2019

Intake of sucrose-sweetened soft beverages during pregnancy and risk of congenital heart defects (CHD) in offspring: a Norwegian pregnancy cohort study.

European journal of epidemiology
2018

Successful simultaneous transcatheter treatment for a secundum atrial septal defect complicated by valvular pulmonary stenosis in an infant.

Cardiology in the young
2018

Biventricular Noncompaction Cardiomyopathy Accompanied by Severe Pulmonary Valvular Stenosis and Patent Foramen Ovale.

Journal of cardiovascular echography
2019

The Norwood Procedure With Valvular Pulmonary Stenosis.

The Annals of thoracic surgery
2018

Pulmonary valve cusp augmentation for pulmonary regurgitation after percutaneous balloon pulmonary valvuloplasty of valvular pulmonary stenosis.

Cardiology in the young
2017

Percutaneous balloon pulmonary valvuloplasty (PBPV) of extreme pulmonary valve stenosis by the use of Accura balloon.

BMJ case reports
2017

Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association.

SAGE open medical case reports
2017

An unconventional valvuloplasty: severe pulmonary stenosis with 'candy cane' inferior vena cava.

BMJ case reports
2017

Imaging of the pulmonary valve in the adults.

Current opinion in cardiology
2016

Use of Dobutamine Stress Echocardiography for Periprocedural Evaluation of a Case of Critical Valvular Pulmonary Stenosis with Delayed Presentation.

Journal of cardiovascular echography
2017

Longitudinal function and ventricular dyssynchrony are restored in children with pulmonary stenosis after percutaneous balloon pulmonary valvuloplasty.

The international journal of cardiovascular imaging
2016

The development of a pseudo-chamber after balloon pulmonary angioplasty: long-term complications of balloon pulmonary angioplasty.

Heart and vessels
2017

The unnatural history of pulmonary stenosis up to 40 years after surgical repair.

Heart (British Cardiac Society)
2016

One-stage Hybrid Procedure for Patients with Valvular Pulmonary Stenosis and Coronary Artery Disease.

Chinese medical journal
2015

Parachute deformity of both atrioventricular valves with congenitally corrected transposition in an adult.

Indian heart journal
2015

A prominent 'A' notch in the pulmonary valve M mode-one more cause of the same.

BMJ case reports
2015

Duplication of HEY2 in cardiac and neurologic development.

American journal of medical genetics. Part A
2015

Pulmonary valve cusp augmentation for pulmonary regurgitation after repair of valvular pulmonary stenosis.

The Annals of thoracic surgery
Ver todos os 84 no EuropePMC

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Severe Congenital Pulmonary Valve Stenosis Diagnosed in Adulthood: A Case Report.
    Cureus· 2026· PMID 41853394mais citado
  2. Persistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.
    Journal of the Saudi Heart Association· 2026· PMID 41847119mais citado
  3. Balloon pulmonary valvuloplasty as a palliative strategy for late presenting adolescents and adult patients with cyanotic congenital heart disease.
    Indian heart journal· 2026· PMID 41577181mais citado
  4. Coexistence of Severe Valvular Pulmonary Stenosis and Papillary Thyroid Carcinoma: A Rare Association or Coincidence?
    Cureus· 2025· PMID 41111846mais citado
  5. Evolution of Clinical Features in Right Ventricular Outflow Tract Obstruction: Evidence From an Echocardiographic Database in China.
    Reviews in cardiovascular medicine· 2025· PMID 41089794mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99054(Orphanet)
  2. MONDO:0020395(MONDO)
  3. GARD:19622(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q579527(Wikidata)

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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Displasia da válvula pulmonar
Compêndio · Raras BR

Displasia da válvula pulmonar

ORPHA:99054 · MONDO:0020395
CID-10
Q22.1 · Estenose congênita da valva pulmonar
Ensaios
5 ativos
MedGen
UMLS
C0034089
EuropePMC
Wikidata
Wikipedia
Papers 10a
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