Raras
Buscar doenças, sintomas, genes...
Insuficiência ou estenose congênita da valva mitral
ORPHA:95464CID-10 · Q23DOENÇA RARA

Estenose aórtica (EAo), também chamada estenose de válvula aórtica ou estenose valvar aórtica, é uma doença de curso progressivo caracterizada pela obstrução à passagem do fluxo sanguíneo da via de saída do ventrículo esquerdo do coração pela calcificação das estruturas valvares, associada ou não à fusão das válvulas da valva aórtica. Os sintomas são graduais e por vezes insidiosos, mas muitos indivíduos com quadro grave de estenose podem ser assintomáticos. Assim, os sinais clínicos de insuficiência cardíaca, perda de consciência ou dores no peito, decorrentes do processo de calcificação valvar, costumam surgir normalmente após os 60 anos de idade. O espessamento da valva sem estreitamento de sua luz é conhecido como esclerose aórtica.

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Introdução

O que você precisa saber de cara

📋

Condição cardíaca rara caracterizada por defeitos na valva mitral desde o nascimento, causando regurgitação ou estreitamento. Pode estar associada a características físicas como estatura alta, palato alto e estreito, e deformidades torácicas.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q23
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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

Partes do corpo afetadas

❤️
Coração
3 sintomas
🦴
Ossos e articulações
3 sintomas
😀
Face
2 sintomas

+ 1 sintomas em outras categorias

Características mais comuns

Regurgitação mitral
Prolapso da valva mitral
Estrias distensas
Estatura alta desproporcional
Palato alto e estreito
Curvas da coluna vertebral usualmente invertidas
9sintomas
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.

Regurgitação mitralMitral regurgitation
Prolapso da valva mitralMitral valve prolapse
Estrias distensasStriae distensae
Estatura alta desproporcionalDisproportionate tall stature
Palato alto e estreitoHigh, narrow palate

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026196 papers
Linha do tempo
2025Hoje · 2026
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

Genes associados

2 genes identificados com associação a esta condição.

DCHS1Protocadherin-16Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation (PubMed:26258302)

LOCALIZAÇÃO

Cell membrane

MECANISMO DE DOENÇA

Van Maldergem syndrome 1

An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
67.0 TPM
Cervix Endocervix
40.8 TPM
Cólon sigmoide
36.7 TPM
Aorta
34.2 TPM
Fallopian Tube
32.2 TPM
OUTRAS DOENÇAS (4)
mitral valve prolapse, myxomatous 2van Maldergem syndrome 1familial mitral valve prolapsevan Maldergem syndrome
HGNC:13681UniProt:Q96JQ0
DZIP1Cilium assembly protein DZIP1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body (PubMed:19852954, PubMed:23955340, PubMed:27979967, PubMed:32051257). At the exit of mitosis, localizes to the basal body and ciliary base of the forming primary cilium where it recruits and activates RAB8A to direct vesicle-mediated transport of proteins to the cilium (By similarity). Also recruits the BBSome, a complex involved in cilium biogenesis, by bridging it to PCM1 at the

LOCALIZAÇÃO

Cytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satelliteCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleNucleusNucleus speckleCytoplasm

VIAS BIOLÓGICAS (1)
Hedgehog 'on' state
MECANISMO DE DOENÇA

Mitral valve prolapse 3

An autosomal dominant form of mitral valve prolapse, a valvular heart disease characterized by abnormally elongated and thickened mitral valve leaflets, that typically show myxomatous degeneration with increased leaflet compliance. It is associated with mitral regurgitation. Myxomatous mitral valves have an abnormal layered architecture characterized by loose collagen in fibrosa, expanded spongiosa strongly positive for proteoglycans, and disrupted elastin in atrialis. In classic mitral valve prolapse, leaflets are at least 5 mm thick, whereas in the non-classic form, they are less than 5 mm thick. Severe classic mitral valve prolapse is strongly associated with arrhythmias, endocarditis, heart failure, and need for valve surgery.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
43.5 TPM
Cérebro - Hemisfério cerebelar
34.3 TPM
Ovário
33.9 TPM
Útero
28.5 TPM
Cerebelo
28.3 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (2)
mitral valve prolapse, myxomatous 3spermatogenic failure 47
HGNC:HGNC:20908UniProt:Q86YF9

Variantes genéticas (ClinVar)

332 variantes patogênicas registradas no ClinVar.

🧬 DZIP1: GRCh38/hg38 13q31.3-34(chr13:89779269-114338054)x1 ()
🧬 DZIP1: GRCh37/hg19 13q32.1-34(chr13:95736898-113752654)x1 ()
🧬 DZIP1: NM_198968.4(DZIP1):c.1538-17T>G ()
🧬 DZIP1: NM_198968.4(DZIP1):c.2525-17C>G ()
🧬 DZIP1: GRCh37/hg19 13q31.2-33.1(chr13:88690727-102272954)x1 ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

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 — Insuficiência ou estenose congênita da valva mitral

Centros de Referência SUS

24 centros habilitados pelo SUS para Insuficiência ou estenose congênita da valva mitral

Centros para Insuficiência ou estenose congênita da valva mitral

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Timeline de publicações
0 papers (10 anos)
#1

Impact of blood pressure levels and variability after successful revascularization on the prognosis in ICAS-LVOS patients.

Frontiers in neurology2026

**Atenção:** O título do tema que você forneceu ("Congenital mitral valve insufficiency and/or stenosis") não corresponde ao conteúdo do artigo científico que você anexou. O resumo abaixo é baseado no artigo fornecido sobre AVC. Este estudo, focado em pacientes com acidente vascular cerebral (AVC) isquêmico por oclusão de grandes vasos (ICAS-LVOS) após tratamento endovascular bem-sucedido, revelou que níveis mais elevados de pressão arterial sistólica (PAS) e sua maior variabilidade nas 24 horas seguintes estão associados a uma menor recuperação precoce e um risco aumentado de deterioração neurológica. Para médicos e pacientes, isso significa que manter a pressão arterial em um nível relativamente baixo e consistente após o procedimento é crucial para melhorar o prognóstico e evitar complicações neurológicas.

🇧🇷 traduzido
#2

PTCD-Assisted ERCP for Severe Stricture at the Biliary-Enteric Anastomosis following Pancreaticoduodenectomy: A Case Report.

Case reports in gastroenterology2026

Este artigo descreve uma abordagem inovadora para tratar estenoses severas e refratárias na anastomose biliar-entérica (BEAS) após pancreaticoduodenectomia, uma condição complexa onde intervenções convencionais frequentemente falham devido à anatomia alterada. A técnica combina drenagem biliar percutânea (PTCD) com colangiopancreatografia retrógrada endoscópica (ERCP), utilizando um "stent retriever" para dilatação mecânica controlada da estenose. Essa estratégia demonstrou ser tecnicamente viável e eficaz para superar barreiras anatômicas e tratar com sucesso casos onde outras abordagens falharam, oferecendo uma nova possibilidade terapêutica para pacientes e uma opção de resgate para médicos.

🇧🇷 traduzido
#3

Automated Phenotyping of Mitral Stenosis Using Deep Learning.

medRxiv : the preprint server for health sciences2026 Mar 04

Este estudo desenvolveu o EchoNet-MS, uma ferramenta de inteligência artificial que diagnostica automaticamente a estenose mitral (EM) e sua gravidade, além de diferenciar sua etiologia (reumática ou não reumática), a partir de vídeos de ecocardiografia. Validada em um grande número de pacientes, a ferramenta demonstrou excelente precisão na identificação de EM grave e suas causas. Para médicos e pacientes, isso representa um avanço promissor para um diagnóstico mais rápido, consistente e preciso da EM, atuando como um valioso suporte automatizado à decisão clínica.

🇧🇷 traduzido
#4

Distance from tertiary care, pericardial effusion, and nutritional status predict all-cause mortality among Malawian children with rheumatic heart disease.

medRxiv : the preprint server for health sciences2026 Mar 04

Este estudo com crianças malawianas com doença cardíaca reumática (DCR) identificou fatores críticos de risco para a mortalidade, que foi alta (quase um quarto dos pacientes morreu em menos de dois anos). Para pacientes e médicos, os principais preditores independentes de morte foram viver longe de um centro de referência (>40km), o estado de desnutrição, a presença de derrame pericárdico (líquido ao redor do coração) e o uso de betabloqueadores. Esses achados sublinham a necessidade urgente de melhorar o acesso a cuidados especializados, o suporte nutricional e o manejo clínico para pacientes com DCR em ambientes de poucos recursos.

🇧🇷 traduzido
#5

Timing of Intervention and Long-Term Outcomes in Mild Congenital Heart Disease: A 35-Year Study From the Pediatric Cardiac Care Consortium.

Circulation. Cardiovascular interventions2026 Mar 23

Este estudo analisou a evolução de longo prazo de cardiopatias congênitas leves como comunicação interatrial/ventricular, persistência do canal arterial e estenose da valva pulmonar (e **não** abordou especificamente a insuficiência ou estenose da valva mitral), demonstrando que as intervenções resultam em excelente sobrevida a longo prazo, superando 90% em 35 anos. No entanto, os resultados são mais favoráveis quando a intervenção ocorre entre 1 e 5 anos de idade e o paciente possui bom peso para a idade; além disso, o risco de mortalidade permanece ligeiramente elevado por até 18-20 anos em comparação com a população geral, sublinhando a necessidade de acompanhamento médico vitalício e individualizado para esses pacientes.

🇧🇷 traduzido

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Impact of blood pressure levels and variability after successful revascularization on the prognosis in ICAS-LVOS patients.

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Automated Phenotyping of Mitral Stenosis Using Deep Learning.

medRxiv : the preprint server for health sciences
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Distance from tertiary care, pericardial effusion, and nutritional status predict all-cause mortality among Malawian children with rheumatic heart disease.

medRxiv : the preprint server for health sciences
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2026

Losing Sight: How Scoliosis can Impact MRI Interpretation in Lumbar Spinal Stenosis of the Central Canal.

Pain medicine (Malden, Mass.)
2026

Cumulative gastrointestinal adverse events in EMBRACE-I: comparative evaluation of CTCAE vs. MOSES methods in predicting the impact of incident vs. persistent adverse events on quality of life.

Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
2026

Long-term Outcomes of Open Mitral Commissurotomy Versus Mechanical Mitral Valve Replacement in Rheumatic Mitral Stenosis.

The Annals of thoracic surgery
2026

Evaluation of Left Ventricular Function for Risk Stratification in Asymptomatic Severe Aortic Stenosis with Preserved Contractility.

The Annals of thoracic surgery
2026

Stroke Risk After Ischemic Ocular Events: A Real-World Study of an Electronic Health Record Database.

Ophthalmology. Retina
2026

Angioplasty of Cephalic Arch Stenosis in Patients Enrolled in the AVeNEW Trial: Post Hoc Analysis of 730-Day Primary Patency and Restenosis Patterns.

Journal of vascular and interventional radiology : JVIR
2026

ACOD-itaconate in macrophage attenuates oxidative stress and inflammation in benign airway stenosis by upregulating and transferring FTH1.

Redox biology
2026

Ex vivo endothelial denudation of porcine aortic valves.

Biochemical and biophysical research communications
2026

Machine learning-based prediction of surgical timing and discharge in infantile hypertrophic pyloric stenosis a multimodal predictive approach.

Pediatric surgery international
2026

Long-Term Audiological Outcomes After Surgical Repair for Congenital Aural Stenosis.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

Unilateral Percutaneous Transforaminal Endoscopic Approach With Bilateral Decompression for Large Central Lumbar Disc Herniation Complicated by Bilateral Neurological Symptoms: A 2-Year Retrospective Clinical Study.

Medical science monitor : international medical journal of experimental and clinical research
2026

Angiography-derived fractional flow reserve versus coronary angiography to guide coronary artery bypass grafting in patients undergoing surgical valve procedures with concomitant coronary artery disease in China (FAVOR IV-QVAS): a multicentre, triple-blind, randomised trial.

Lancet (London, England)
2026

Rheumatic Heart Disease Is Not Over: Cardiac Cirrhosis and Multivalvular Sequelae in an Endemic Setting - A Case Series and Review.

Current problems in cardiology
2026

Coronary Sinus Reduction for REDUCER-I Patients With Refractory Angina and Angiographically Nonobstructive Coronary Artery Disease.

JACC. Advances
2026

A scoping review of douching practices following gender-affirming vaginoplasty: toward standardized guidelines.

Sexual medicine reviews
2026

Coronary artery anomalies in common arterial trunk: proposal of a new anatomical classification.

Interdisciplinary cardiovascular and thoracic surgery
2026

Effect of non-ionic contrast media on invasive pressure measurements during minimally invasive occlusion of patent ductus arteriosus and balloon valvuloplasty for valvular pulmonic stenosis in dogs.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2026

Surgical Management of Recurrent Tracheal Stenosis in the Setting of Riedel's Thyroiditis.

The Annals of otology, rhinology, and laryngology
2026

Long-term clinical follow-up of intracranial aneurysms treated with flow diverter devices: a bicentric retrospective study.

Chinese neurosurgical journal
2026

Severe Aortic Regurgitation with New Congestive Heart Failure Following Fetal Aortic Valvuloplasty - A Case Report.

Pediatric cardiology
2026

Definitive radiotherapy for early stage glottic cancer: a quarter-century of single-institution experience with long-term outcomes and late events.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
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

Association of oxidative stress with postural control and functional outcomes in lumbar degenerative disease: An exploratory cross-sectional study.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2026

Lumbar spinal stenosis in patients with acromegaly: an MRI-based case-control study.

World neurosurgery
2026

The Outcomes of Percutaneous Mitral Balloon Valvuloplasty In Patients With Severe Rheumatic Mitral Stenosis and Left Atrial Appendage Thrombus: Systematic Review and Meta-Analysis.

The American journal of cardiology
2026

The influence of the positional relationship between the pedicle and the pars interarticularis on unilateral biportal endoscopy: A retrospective cohort study.

Medicine
2026

Plasma metabolomic profiling reveals lipid biomarkers for early detection of exercise-induced myocardial ischemia.

Medicine
2026

Mediation of stenosis-induced ischemia by proximal peri-coronary adipose tissue: A cross-sectional study.

Medicine
2026

Frailty-Modulated Outcomes After Microscopic Versus Unilateral Biportal Endoscopic Decompression for Degenerative Lumbar Spinal Stenosis Without Instability.

Spine
2026

Snare-assisted transcatheter aortic valve implantation: balancing success with risk-a case series.

Journal of cardiovascular medicine (Hagerstown, Md.)
2026

Balloon-expandable valve vs. self-expandable valve for small aortic annuli: a GRADE-assessed systematic review and updated meta-analysis.

Journal of cardiovascular medicine (Hagerstown, Md.)
2026

Medical management and revascularization for asymptomatic carotid stenosis: a meta-analysis of randomized controlled trials.

Journal of neurology
2026

Valve Pop-Up and Infolding in Transcatheter Aortic Valve Replacement for a Heavily Calcified Bicuspid Valve.

JACC. Case reports
2026

Invasive Confirmation of Microvascular Recovery Parallel to Left Ventricular Functional Restoration.

JACC. Case reports
2026

[Lipoprotein(a) - the hereditary risk factor for cardiovascular disease].

Lakartidningen
2026

Stroke Risk After Bioprosthetic Aortic Valve Replacement in Aortic Stenosis: Systematic Review and Meta-Analysis.

Stroke
2026

Combined Anatomic and Functional Testing Identifies Patients With Obstructive Coronary Artery Disease Who Benefit From Revascularization.

Circulation. Cardiovascular imaging
2026

Associations Between B-Cell Subsets and Subclinical Coronary Artery Disease in Ugandans With and Without HIV.

Open forum infectious diseases
2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Chronic Marijuana Use and Coronary Artery Disease: A Case Report of Two Patients.

Cureus
2026

Main branches pulmonary artery stenting in congenital heart diseases: a case series.

Frontiers in cardiovascular medicine
2026

Feasibility of detecting aortic stenosis with mobile phone auscultation data: a pilot study.

Frontiers in cardiovascular medicine
2026

Contribution of rare variation to degenerative orthopedic diseases.

Osteoarthritis and cartilage open
2026

EAM-CT Merge Guiding a Safe Transeptal Puncture in Atrial Tachycardia Ablation in a Intracardiac Fontan Patient.

Clinical case reports
2026

CT-assessment of carotid plaque features and their impact on residual stenosis after stenting.

Frontiers in neurology
2026

Higher fibrinogen levels contributes to thrombosis in intracranial atherosclerosis-related large vessel occlusion strokes.

Frontiers in neurology
2026

Associations of Systemic Inflammatory Response Index (SIRI) and Systemic Inflammatory Index (SII) with Cerebral Atherosclerosis.

Journal of inflammation research
2026

Intestinal Stenosis Related to Immune Checkpoint Inhibitors Caused by Sintilimab: A Case Report.

Journal of inflammation research
2026

Serum Aberrant Expression of miR-377-3p and Its Diagnostic Value in Carotid Artery Stenosis.

International journal of general medicine
2025

Aberrant Chordae Tendineae Accompanying Severe Subaortic Stenosis.

Clinical case reports
2025

INFANTILE HYPERTROPHIC PYLORIC STENOSIS IN NIGERIA: A MULTICENTER RETROSPECTIVE STUDY.

Annals of Ibadan postgraduate medicine
2026

Mid-to-Long Term Radiological and Clinical Outcomes of Oblique Lateral Interbody Fusion versus Posterior Lumbar Interbody Fusion for Severe Lumbar Spinal Stenosis: A Retrospective Comparative Study.

Journal of pain research
2026

Severe mitral stenosis due to primary cardiac intimal sarcoma: case report.

European heart journal. Case reports
2025

An Unexpected Right Turn: Multipurpose A2 Catheter Causing Right Atrial Perforation.

Clinical case reports
2026

Surgical decision making in late-presenting Hirschsprung's disease: direct pull-though or stoma first.

Frontiers in surgery
2026

Different Types of Aortic Valve Stenosis in Patients Undergoing Transcatheter Aortic Valve Replacement.

Structural heart : the journal of the Heart Team
2026

Percutaneous Endoscopic Lumbar Decompression Using a Novel L-Shaped Impactor for Treating Lumbar Foraminal and Nerve Root Canal Stenosis in Elderly Patients With High Iliac Crests: A Retrospective Cohort Study.

Orthopaedic surgery
2026

PCSK9 inhibitoRs for Early Passivation of coRonary athEroSclerotic plaqueS in acute coronary syndromes (REPRESS): study protocol for a multicentre randomised controlled trial.

BMJ open
2026

Causal inference and mediating pathways of metabolic syndrome on calcific aortic valve stenosis: linkage disequilibrium score regression and two-sample, two-step mendelian randomization study.

Journal of cardiothoracic surgery
2026

Crisis-Driven Autonomization of Pediatric Liver Procurement and Implantation During COVID-19: A Transition From International Support to Local Execution.

Pediatric transplantation
2026

Assessment of the Gradient Gap After TAVR with Balloon and Self-Expandable Valves: Analysis of a Large Patient Cohort.

American heart journal
2026

Development and Validation of a Risk Score for Transthyretin Amyloidosis in Patients with Severe Aortic Stenosis Undergoing Transcatheter Aortic Valve Implantation: The GRECA-TAVI Registry.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2026

Endovascular Treatment of Femoropopliteal Tosaka III In Stent Re-stenosis.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2026

Carotid Revascularization and Hemispheric White Matter Disease Progression.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2026

Association between different biomarkers and mortality in moderate or asymptomatic severe aortic stenosis: A systematic review.

Medicina clinica
2026

Unbiased Discovery of Genetic Determinants of Resilience to CAD: Insights From PROMISE and CATHGEN.

JACC. Advances
2026

Outcomes with limus-coated vs. paclitaxel-coated balloons for percutaneous coronary intervention: An updated meta-analysis and reconstructed time-to-event analysis of randomized controlled trials.

Heart & lung : the journal of critical care
2026

Laparoscopic Mitrofanoff procedure in children: Feasibility and outcome analysis over 18 years in a single centre.

Journal of pediatric urology
2026

Agreement of CT versus MRI in reinvestigation of patients operated for lumbar spinal stenosis. a comparison of surgically and non-surgically treated levels.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2026

Myxoid Pleomorphic Liposarcoma Imitating Recurrent Traumatic Hemopericardium.

JACC. Case reports
2026

Aortoplasty and Stent Implantation for the Dacron-Jotec Junction Stenosis: First-in-Human Case Report.

JACC. Case reports
2026

Extensive Retrograde Dissection After Intravascular Lithotripsy Balloon Rupture: The Path of Least Resistance.

JACC. Case reports
2026

Deep Learning-based Monoenergetic Imaging for Calcified Coronary Stenosis Assessment at Energy-integrating Detector CT.

Radiology. Cardiothoracic imaging
2026

Digital Ischemia Following Radial Access Unmasking Systemic Sclerosis: Characteristic Intravascular Ultrasound Findings.

JACC. Case reports
2026

Pulsed-Field Redo Ablation With Balloon Angioplasty for Postablation Pulmonary Vein Stenosis.

JACC. Case reports
2026

Simultaneous TAVR and EVAR for Severe Aortic Regurgitation With Giant Abdominal Aortic Aneurysm.

JACC. Case reports
2026

Transcatheter Aortic Valve Replacement for Severe Bicuspid Aortic Valve Stenosis.

Circulation. Cardiovascular interventions
2026

Perirenal Adipose Tissue may be an Important Predictor of Adverse Kidney Outcomes in Living Kidney Donors.

Kidney international reports
2026

Utilizing the coronary artery calcium score to predict coronary artery disease in individuals with presumed cardiac symptoms: A diagnostic study.

American heart journal plus : cardiology research and practice
2026

Chronic ischemic heart disease: A nonuniform syndrome.

American heart journal plus : cardiology research and practice
2026

Radiographic and clinical predictors of surgical outcomes following endoscopic decompression for radiculopathy in adult degenerative scoliosis: A multi-center retrospective study.

Brain & spine
2026

Beyond Referral: Symptoms Still Matter in Severe Aortic Stenosis.

Structural heart : the journal of the Heart Team
2026

Minimally Invasive Tubular Posterior Cervical Laminectomy in Medically Complex Patients: A Case Series With Clinical and Radiographic Outcomes.

Cureus
2026

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

Cureus
2026

Correlation of the Clinical and Angiographic Patterns of Coronary Artery Disease in Smokeless Tobacco Users and Smokers.

Journal of pharmacy & bioallied sciences
2026

Practice Patterns of Physicians Who Perform Lumbar Interlaminar Epidural Steroid Injections: A Technical Survey.

Journal of pain research
2026

Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.

Journal of surgical case reports
2026

The impact of overall lumbar disc degeneration burden on disability outcomes following surgery for lumbar spinal stenosis due to osteoarthritis.

Osteoarthritis and cartilage open
2026

Carotid endarterectomy with active extracorporeal perfusion for bilateral ocular ischemic syndrome in a patient with a preoperatively defined critical single-vessel cerebral supply on four-dimensional flow magnetic resonance imaging.

Journal of vascular surgery cases and innovative techniques
2026

The influence of different transcatheter aortic valve implantation angles, as assessed by multidetector spiral CT scanning, on the depth of valve implantation and its impact on clinical prognosis.

Frontiers in medicine
2026

Laparoscopic Bile Duct Exploration: How We Do It? A 5-Year-Experience Report.

Journal of laparoendoscopic & advanced surgical techniques. Part A
2026

Robot-assisted choledochal cysts resection in children across all ages: a larger cohort single-center experience with 318 Cases.

Journal of robotic surgery
2026

Analysis of aortic valve prostheses using advanced cardiovascular imaging-a patient-specific reversed translational approach.

Scientific reports
2026

Mechanical versus biological aortic valve replacement in patients aged 50-70 years: a systematic review and meta-analysis.

Heart (British Cardiac Society)
2026

Life expectancy and determinants of relative survival following surgical aortic valve replacement for aortic stenosis.

Heart (British Cardiac Society)
2026

Poorly differentiated sarcoma involving the mitral valve in a golden retriever.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2026

Left transradial carotid artery stenting using the 6-French Simmons guiding sheath: Initial experiences with three Simmons forming techniques.

Clinical neurology and neurosurgery
2026

ACE-ProtoNet: Adaptive covariance eigen-gate and uncertainty-aware prototype learning for coronary artery segmentation.

Medical image analysis
2026

Cardiac rehabilitation against frailty and sarcopenia in older individuals: a literature review.

European journal of preventive cardiology
2026

Obstructive Hypertrophic Cardiomyopathy With Degenerative Mitral Regurgitation: A New Treatment Strategy Using Mavacamten Combined With M-TEER.

JACC. Case reports
2026

A bioabsorbable adhesive wrap for sutureless arterial repair: Initial development and preclinical testing in a rat model.

The journal of trauma and acute care surgery
2026

Synchronous arch arterial occlusion - A clinical impasse?

Journal of postgraduate medicine
2026

Simple Index for Identifying Patients at Increased Risk of Suboptimal Forward-Flow Hemodynamics After Transcatheter Aortic Valve Replacement.

Journal of the American Heart Association
2026

Concomitant Discovery and Treatment of Acquired and Congenital Cardiac Disease.

JACC. Case reports
2026

Ten-year medication-free remission of type 2 diabetes in a South Asian male using a culturally adapted low-carbohydrate diet: an N-of-1 longitudinal study.

Frontiers in nutrition
2026

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

Journal of the Saudi Heart Association
2026

Acute Myocardial Infarction Secondary to Triple Vessel Coronary Artery Disease in a 31-year-old Female with Systemic Lupus Erythematosus: Case Report and Review of Literature.

Acta medica Philippina
2026

Suicide Left Ventricle After Aortic Valve Intervention: Mechanisms, Risk Phenotypes, and Clinical Considerations.

Trends in cardiovascular medicine
2026

Development and validation of a prognostic model of postnatal circulation in fetuses with pulmonary atresia or critical pulmonary stenosis with intact ventricular septum: protocol for an observational cohort study with prospective validation.

BMC pregnancy and childbirth
2026

Transpedal intervention for common femoral artery stenosis caused by a suture-mediated vascular closure device after transcatheter aortic valve replacement.

Cardiovascular intervention and therapeutics
2026

A multi-centre study of prescribing patterns for the management of resistant hypertension amongst cardiologists.

Journal of human hypertension
2026

Subaortic Stenosis in Four Free-Ranging Eurasian Lynx (Lynx lynx) from the Alpine and Jura Populations in Switzerland.

Journal of wildlife diseases
2026

Preoperative ligamentum flavum thickness as a predictor of the progression of postoperative hypertrophy at the cranial adjacent level after posterior lumbar interbody fusion: a retrospective observational study in Japan.

Asian spine journal
2026

β2-microglobulin amyloid deposition and the RAGE-related inflammation pathway in ligamentum flavum thickening among patients undergoing hemodialysis: a comparative cross-sectional study from Japan.

Asian spine journal
2026

"Longitudinal Ultrasonographic Evaluation of Hemodynamic Changes at End-to-Side Anastomoses to Major Arteries in Limb Free Flap Surgery".

Plastic and reconstructive surgery
2026

Sex-specific remodelling of the aortic valve in aortic stenosis: Is fibrosis the missing piece?

European heart journal. Cardiovascular Imaging
2026

Severe renovascular hypertension in an infant with a SMAD3 gene variant.

Pediatric nephrology (Berlin, Germany)
2026

Pressure gradient vs. flow relationships in patients with symptomatic valvular aortic stenosis - PREFLOW.

Clinical research in cardiology : official journal of the German Cardiac Society
2026

Rolled amniotic membrane for practical vascular graft development: a scoping review.

Human cell
2026

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal of pediatric endocrinology & metabolism : JPEM
2025

Subglottic stenosis: characteristics and results in patients underwent to a laryngotracheal reconstruction.

Andes pediatrica : revista Chilena de pediatria
2026

Evaluation of Supracardiac Atherosclerosis in Stroke with a Noncontrast Head-Neck-Aortic Vessel Wall MRI.

Radiology
2026

Lipoprotein(a) and clinical outcomes after transcatheter aortic valve implantation: a prospective, multicenter cohort study.

Polish archives of internal medicine
2026

Senescence-associated metabolic alterations aggravate calcific aortic valve disease.

European heart journal
2026

2025 ESC/EACTS valvular heart disease guidelines: key updates and surgical implications for cardiac surgeons.

Current opinion in cardiology
2026

Probe-Guided Intersphincteric Lateral Internal Sphincterotomy: A Modified Approach for Chronic Anal Fissures.

Diseases of the colon and rectum
2026

Interleukin 11-Induced MicroRNAs as Functional Mediators and Circulating Biomarkers of Cardiac Fibrosis.

Circulation research
2026

Letter by Ji and Benharrats Regarding Article "Artificial Intelligence-Enabled Echocardiography as a Surrogate for Multimodality Aortic Stenosis Imaging: Post Hoc Analysis of a Clinical Trial".

Circulation. Cardiovascular imaging
2026

Surgical algorithms for ankylosing spondylitis-related pseudarthrosis : adapting to radiological and clinical variations.

Bone & joint open
2026

Small Pontine Infarction Secondary to Posterior Inferior Cerebellar Artery (PICA) Atherosclerosis: The Diagnostic Value of 3 Tesla MRI.

Cureus
2026

Contrast-Induced Encephalopathy After Simultaneous Embolization of Multiple Intracranial Aneurysms: A Case Report and Management.

Cureus
2026

Surgical outcomes in non-ambulatory thoracic myelopathy: differences between ossification of the posterior longitudinal ligament and the ligamentum flavum.

Journal of orthopaedic surgery and research
2026

Mitral stenosis severity and the hypoxic response: potential role of hypoxia-inducible factor-2α - a cross-sectional study.

BMC cardiovascular disorders
2026

Coronary artery disease diagnosis with signal processing and machine learning of heart sound signals: a systematic review.

NPJ digital medicine
2026

Percutaneous Endovascular Management of MANTA-Related Vascular Occlusion.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
2026

Evolocumab alleviates atherogenesis by inhibiting inflammation-mediated endothelial cell activation via the PI3K/AKT/NF-κB pathway.

European journal of pharmacology
2026

Endoscopic resection-related duodenal strictures: prevalence, risk factors, management, and outcomes.

Endoscopy
2026

Factors determining the surgical outcomes in infantile hypertrophic pyloric stenosis at Muhimbili National Hospital, Tanzania.

Pediatric surgery international
2026

Gastric ischemic conditioning before esophagectomy: contemporary practices and insights from an international survey.

Surgical endoscopy
2026

Comparative Effectiveness of Antihypertensive Medications in Children With Chronic Kidney Disease.

JAMA pediatrics
2026

Renal Artery Stenosis Secondary to Cytomegalovirus Infection in an Infant.

JACC. Case reports
2026

Go With the Flow: Hepatic Hemodynamics Impact Outcomes in Pediatric Liver Transplant.

Pediatric transplantation
2026

Megaduodenum secondary to jejunal atresia: a pediatric case report of a rare surgical complication.

International journal of surgery case reports
2026

Refractory duodenal hemorrhage in the setting of aberrant SMA anatomy and celiac stenosis: a surgical rescue case report.

International journal of surgery case reports
2026

Novel technique for arteriovenous fistula stenosis using a nitinol-caged balloon: a case report.

International journal of surgery case reports

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doenças relacionadas

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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. Impact of blood pressure levels and variability after successful revascularization on the prognosis in ICAS-LVOS patients.
    Frontiers in neurology· 2026· PMID 41868490mais citado
  2. PTCD-Assisted ERCP for Severe Stricture at the Biliary-Enteric Anastomosis following Pancreaticoduodenectomy: A Case Report.
    Case reports in gastroenterology· 2026· PMID 41868190mais citado
  3. Automated Phenotyping of Mitral Stenosis Using Deep Learning.
    medRxiv : the preprint server for health sciences· 2026· PMID 41867211mais citado
  4. Distance from tertiary care, pericardial effusion, and nutritional status predict all-cause mortality among Malawian children with rheumatic heart disease.
    medRxiv : the preprint server for health sciences· 2026· PMID 41867168mais citado
  5. Timing of Intervention and Long-Term Outcomes in Mild Congenital Heart Disease: A 35-Year Study From the Pediatric Cardiac Care Consortium.
    Circulation. Cardiovascular interventions· 2026· PMID 41867053mais citado
  6. Percutaneous treatment of biliary strictures following paediatric liver transplantation: Safety and efficacy of the single-session biliary dilatation protocol.
    Radiologia (Engl Ed)· 2026· PMID 41819972recente
  7. Percutaneous transhepatic cholangioscopy-assisted procedures for the management of postoperative benign bilioenteric anastomotic strictures with or without biliary stones.
    World J Gastroenterol· 2026· PMID 41809459recente
  8. Protocol for the development of the Asian consensus recommendations on the standardised diagnosis and imaging of intracranial atherosclerotic stenosis applying a modified Delphi approach.
    BMJ Open· 2026· PMID 41807011recente
  9. Impact of circular stapler size on anastomotic complications after low colorectal anastomosis: a systematic review and meta-analysis.
    Minerva Surg· 2026· PMID 41804965recente
  10. Ligasure versus voyant hemorrhoidectomy: comparison of 30-day postoperative complications.
    Minerva Surg· 2026· PMID 41804964recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:95464(Orphanet)
  2. MONDO:0019817(MONDO)
  3. GARD:19266(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788892(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

Insuficiência ou estenose congênita da valva mitral
Compêndio · Raras BR

Insuficiência ou estenose congênita da valva mitral

ORPHA:95464 · MONDO:0019817
CID-10
Q23 · Malformações congênitas das valvas aórtica e mitral
MedGen
UMLS
C5681577
Wikidata
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