A valva aórtica bicúspide (VAB) é uma cardiopatia congênita caracterizada pela presença de apenas duas válvulas valvares. Inicialmente, a condição é geralmente assintomática. No entanto, pode ser identificado sopro cardíaco durante o exame clínico. Com o tempo, podem surgir complicações como aneurisma da aorta torácica, que ocorre em metade dos pacientes; dissecção aórtica; estenose ou regurgitação aórtica; endocardite infecciosa; insuficiência cardíaca; e morte súbita.
Introdução
O que você precisa saber de cara
Estenose da válvula aórtica congênita é um estreitamento da valva aórtica presente ao nascimento, podendo causar dispneia, angina e disfunção ventricular. Complicações incluem morte súbita e aneurisma da aorta.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Estenose da válvula aórtica congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Estenose da válvula aórtica congênita
Centros para Estenose da válvula aórtica congênita
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Disruption of Notch1 and Gata5 in Mice Leads to Congenital Aortic Valve Disease.
Here, we describe Notch1;Gata5 compound mutant mice as a novel mouse model of highly penetrant congenital aortic valve disease displaying bicuspid aortic valve and progressive aortic valve stenosis. Further, we find downregulation of smooth muscle genes in the neonatal aortic valves in Notch1;Gata5 compound mice consistent with an immature valve phenotype. Our findings demonstrate a novel genetic interaction between Notch1 and Gata5 in mice that is critical for proper aortic valve development. This novel model is an important tool to define dysregulated signaling pathways for congenital aortic valve stenosis and stenotic disease progression that can be investigated as therapeutic targets.
Uncovering Developmental Origins of Aortic Valve Disease: A Clinically Relevant Genetic Model of Aortic Stenosis.
Clinical course of severe congenital aortic valve stenosis in children.
Congenital valvular aortic stenosis (VAS) in children requires lifelong follow-up. An overview of age-specific treatment pathways from first diagnosis of severe VAS is lacking. To assess patient journeys and outcomes after severe pediatric VAS diagnosis, by describing its clinical course and treatment trajectories based on a 37-year single-center experience. Baseline and time-related data of children diagnosed with severe congenital VAS between 1985 and 2022 were retrospectively collected. Time-related death (Kaplan-Meier estimator) and intervention occurrence (Aalen-Johansen estimator) were analyzed. 245 children (73.1 % male, median age: 1.2 years (IQR:0.1-7.0)) were diagnosed with severe VAS (53 aged <30 days, 74 between 30d-1y, 84 between 1y-12y, 34 between 12y-18y). Median survival follow-up was 23.3 years (IQR:10.3-31.2) (99.0 % complete). Thirty-five-year incidence of death after diagnosis was 16.2 %(95 %CI:9.7-22.2 %). Of 245 patients, 211 patients (86.1 %) underwent an intervention and 34 (13.9 %) did not undergo an intervention. Of these 34 children, 7 children showed time-related Doppler gradient regression to mild-or-moderate VAS and 17 had stable severe VAS. These 24 children experienced a 6.0 % incidence of death at 30-years after diagnosis. The most common intervention over time (47.5 %) was balloon valvuloplasty, especially in neonates and infants, followed by aortic valve replacement (37.5 %), especially in older children. This study highlights the vast heterogeneity of treatment pathways and outcomes in children diagnosed with severe VAS at different ages. The observed stabilization of severe VAS or regression of the serial peak Doppler gradient to mild-or-moderate VAS without symptoms in 24 children highlights the need for better insight into determinants of disease course.
Bicuspid aortic valve repair with autologous aortic wall patches in an adolescent with acute severe regurgitation after balloon dilatation.
An adolescent with bicuspid aortic valve presented with severe aortic stenosis and underwent a balloon valvuloplasty, that resulted in severe acute aortic insufficiency. Herein we demonstrate an aortic valve repair using an autologous aortic wall patch and aortic root stabilisation.
Unicuspid aortic valve repair in a neonate.
The patient had a unicuspid aortic valve with severe aortic stenosis and a mildly dilated and hypertrophied left ventricle with moderately impaired systolic function. Herein we demonstrate the technique of severely dysplastic unicuspid aortic valve repair in the neonatal period.
Publicações recentes
Clinical course of severe congenital aortic valve stenosis in children.
🥉 Relato de casoUncovering Developmental Origins of Aortic Valve Disease: A Clinically Relevant Genetic Model of Aortic Stenosis.
Disruption of Notch1 and Gata5 in Mice Leads to Congenital Aortic Valve Disease.
Bicuspid aortic valve repair with autologous aortic wall patches in an adolescent with acute severe regurgitation after balloon dilatation.
Unicuspid aortic valve repair in a neonate.
📚 EuropePMC76 artigos no totalmostrando 50
Clinical course of severe congenital aortic valve stenosis in children.
International journal of cardiology. Congenital heart diseaseUncovering Developmental Origins of Aortic Valve Disease: A Clinically Relevant Genetic Model of Aortic Stenosis.
JACC. Basic to translational scienceDisruption of Notch1 and Gata5 in Mice Leads to Congenital Aortic Valve Disease.
JACC. Basic to translational scienceBicuspid aortic valve repair with autologous aortic wall patches in an adolescent with acute severe regurgitation after balloon dilatation.
Multimedia manual of cardiothoracic surgery : MMCTSUnicuspid aortic valve repair in a neonate.
Multimedia manual of cardiothoracic surgery : MMCTSThird sternotomy with modified Bentall/Konno procedure for recurrent multilevel left ventricular outflow tract obstruction in a 15-year-old.
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Frontiers in physiologyAortic valve neocuspidization with the Ozaki procedure in congenital aortic valve disease: Early results.
Turk gogus kalp damar cerrahisi dergisiRoss procedure with personalized external aortic root support.
Multimedia manual of cardiothoracic surgery : MMCTSRapid transesophageal atrial pacing for balloon aortic valvuloplasty in neonates and infants: A new technique for balloon stabilization.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsPercutaneous coronary stent implantation in children and young infants following surgical repair of congenital heart disease.
Cardiovascular diagnosis and therapyCongenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics.
Frontiers in cardiovascular medicineImmediate results of primary balloon dilation for congenital aortic valve stenosis predict the mid-term outcome.
Cardiology in the youngPerspectives on pediatric congenital aortic valve stenosis: Extracellular matrix proteins, post translational modifications, and proteomic strategies.
Frontiers in cardiovascular medicineGeneration and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD).
Stem cell researchSurgical valvotomy versus balloon dilatation for children with severe aortic valve stenosis: a systematic review.
Future cardiologyAortic Valve Repair in Neonates With Aortic Stenosis and Reduced Left Ventricular Function.
Seminars in thoracic and cardiovascular surgery[Fetal aortic valvuloplasty in a patient with critical, congenital aortic valve stenosis and severe left ventricular dysfunction].
Giornale italiano di cardiologia (2006)[Pneumonia, endocarditis of two valves and pulmonary artery embolism in a 26-year-old male patient].
Der InternistResults of balloon and surgical valvuloplasty in congenital aortic valve stenosis: A 19-year, single-center, retrospective study.
Turk gogus kalp damar cerrahisi dergisiCollagen fiber regulation in human pediatric aortic valve development and disease.
Scientific reportsBalloon dilatation versus surgical valvotomy for congenital aortic stenosis: a propensity score matched study.
Cardiology in the youngSpatial N-glycomics of the human aortic valve in development and pediatric endstage congenital aortic valve stenosis.
Journal of molecular and cellular cardiologyRapid right ventricular pacing for balloon valvuloplasty in congenital aortic stenosis: A systematic review.
World journal of cardiologyPhysical models of infant mortality: implications for defects in biological systems.
Journal of biological physics[Long-term outcome of percutaneous balloon aortic valvuloplasty for children with congenital aortic valve stenosis].
Zhonghua xin xue guan bing za zhiRapid right ventricular pacing for balloon aortic valvuloplasty: expanding its routine use in neonates and infants.
Cardiology in the youngSurgical and Transcatheter Treatments in Children with Congenital Aortic Stenosis.
The Thoracic and cardiovascular surgeonAdult Congenital Heart Disease Outpatient Clinic. Descriptive Analysis of A 12-Year Experience in Brazil.
Brazilian journal of cardiovascular surgeryCommentary: Congenital Aortic Valve Stenosis: Defining the Path to Success.
Seminars in thoracic and cardiovascular surgeryImmediate And Midterm Results Of Balloon Aortic Valvuloplasty In Children With Aortic Valve Stenosis With Special Reference To Dysplastic Aortic Valve.
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The American journal of cardiologyBalloon Aortic Valvuloplasty for Congenital Aortic Stenosis: A 14-Year Single Centre Review.
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Acta Cardiologica SinicaHybrid Balloon Valvuloplasty for the Treatment of Severe Congenital Aortic Valve Stenosis in Infants.
The Annals of thoracic surgeryBioprosthetic aortic valve replacement 12 years after percutaneous aortic valvuloplasty in a young female adult with hope of pregnancy.
Acute medicine & surgeryMALDI Imaging Mass Spectrometry as a Lipidomic Approach to Heart Valve Research.
The Journal of heart valve disease[Balloon valvuloplasty for aortic stenosis using umbilical vein access in a newborn: First experience in Turkey].
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Journal of the American Heart AssociationGenome-Wide DNA Methylation Analysis and Epigenetic Variations Associated with Congenital Aortic Valve Stenosis (AVS).
PloS oneRelation of Aortic Valve Morphologic Characteristics to Aortic Valve Insufficiency and Residual Stenosis in Children With Congenital Aortic Stenosis Undergoing Balloon Valvuloplasty.
The American journal of cardiologyProgression of Aortic Regurgitation After Different Repair Techniques for Congenital Aortic Valve Stenosis.
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Cardiology in the youngAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Estenose da válvula aórtica congênita.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Disruption of Notch1 and Gata5 in Mice Leads to Congenital Aortic Valve Disease.
- Uncovering Developmental Origins of Aortic Valve Disease: A Clinically Relevant Genetic Model of Aortic Stenosis.
- Clinical course of severe congenital aortic valve stenosis in children.
- Bicuspid aortic valve repair with autologous aortic wall patches in an adolescent with acute severe regurgitation after balloon dilatation.
- Unicuspid aortic valve repair in a neonate.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3093(Orphanet)
- MONDO:0017735(MONDO)
- GARD:18786(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q3501498(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
