Ventrículo único é uma malformação cardíaca congénita com uma incidência inferior a 10% de todas as cardiopatias congénitas e 5 em cada 100 000 nascimentos, caracterizada pela presença de um único ventrículo e duas aurículas. A comunicação entre as aurículas e os ventrículos faz-se por uma única válvula - canal atrioventricular. Não faz parte do síndrome de hipoplasia do ventrículo esquerdo.
Introdução
O que você precisa saber de cara
Atresia da válvula aórtica é uma malformação congênita grave onde a válvula aórtica não se desenvolve adequadamente, impedindo o fluxo sanguíneo do ventrículo esquerdo para a aorta. Isso resulta em hipoplasia do ventrículo esquerdo e dependência do canal arterial para a circulação sistêmica.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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 — Atresia da válvula aórtica
Centros de Referência SUS
24 centros habilitados pelo SUS para Atresia da válvula aórtica
Centros para Atresia da válvula aórtica
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
Molecular Calcification Imaging and Ascending Aortic Disease in Patients With a Bicuspid Aortic Valve.
Selection of patients with a bicuspid aortic valve and aortopathy for prophylactic aortic surgery remains challenging. In thoracic aortopathy, aortic medial elastin fiber fragmentation initially leads to microcalcification but later declines with progressive loss of elastin content and reduced structural integrity. To determine whether aortic microcalcification detected using fluorine F 18-labeled [18F]-sodium fluoride positron emission tomography (PET) is associated with future aortic diameter expansion. This prospective longitudinal cohort study was conducted in tertiary care centers across Scotland from April 4, 2019, to September 15, 2023. Participants included patients with a bicuspid aortic valve. Data analysis was performed from May 21, 2024, to March 4, 2025. Hybrid [18F]-sodium fluoride PET and computed tomography. Baseline ascending aortic [18F]-sodium fluoride uptake was measured as mean tissue to background ratio. The primary outcome was ascending aortic diameter expansion during 24 months on cardiac magnetic resonance imaging (MRI). Seventy-six patients with a bicuspid aortic valve (mean [SD] age, 52.6 [7.5] years; 57 [75.0%] male) underwent baseline [18F]-sodium fluoride PET and MRI. Fifty-six patients underwent follow-up MRI after a median of 723 (IQR, 515-787) days. There was an inverse correlation between baseline ascending aortic [18F]-sodium fluoride uptake and annual change in diameter (Pearson r = -0.37; P = .005), which remained after adjustment for confounders in multivariable regression analysis. Ascending aortic [18F]-sodium fluoride was not correlated with baseline diameter (Pearson r = 0.08; P = .50) but was moderately correlated with baseline ascending aortic stiffness index (Pearson r = 0.38; P < .001). In this cohort study of patients with a bicuspid aortic valve, the most rapid aortic growth was seen in those with low [18F]-sodium fluoride ascending aortic uptake, indicating reduced aortic wall integrity. High ascending aortic [18F]-sodium fluoride uptake was associated with a stiffer and slow-growing ascending aortic phenotype. These findings suggest that [18F]-sodium fluoride PET imaging represents a promising new noninvasive approach to identify a microcalcified disease phenotype in thoracic aortopathy among patients with a bicuspid aortic valve.
Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
Roundabout guidance receptor 4 (ROBO4) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of ROBO4's role in aortopathy is yet to be fully defined. We studied a 64-year-old woman with a history of surgically corrected congenital aortic coarctation in childhood, bicuspid aortic valve, and mild mitral regurgitation. She had genome sequencing, which revealed a heterozygous germline ROBO4 variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with ROBO4 germline variants may include congenital coarctation of the aorta.
Evolution of the Aorta After Valve Replacement in Bicuspid Aortic Valves: Results at Mid-Term Follow-Up.
Bicuspid aortic valve (BAV) is a common congenital heart defect often associated with ascending aorta dilation. Current guidelines suggest surgical intervention for diameters ≥45 mm in conjunction with surgical aortic valve replacement (SAVR). However, the optimal management of ascending aortas measuring 40-44 mm remains under debate. This study aims to evaluate the evolution of aortic diameter in patients with BAV and ascending aorta diameters between 40 and 44 mm undergoing aortic valve replacement, assessing whether a conservative approach is justified. We conducted a retrospective observational study, analysing 88 patients with BAV who underwent SAVR between January 2012 and December 2018. Patients were divided into two groups based on preoperative ascending aorta diameters: <40 mm (Group 1, n=15) and the ≥40 and <45 mm (Group 2, n=11). Follow-up of at least 5 years included aortic dilation rates, survival, and reoperation rates. No significant differences were observed in aortic dilation between the two groups during follow-up, with overall annual dilation rates of 0.2±0.07 mm/year. Survival rates were 86.3% for Group 1 and 81.9% for Group 2, with no reoperations required in either group. Patients with BAV and ascending aorta diameters of 40-44 mm do not require prophylactic aortic replacement during AVR, provided they undergo regular follow-up. These findings support current guidelines advocating conservative management for ascending aorta diameters in this range. However, in younger patients or those nearing the 45 mm threshold, surgical replacement may still be considered to pre-empt future complications.
[Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].
Objective: To establish a multi-parametric scoring system for predicting postnatal circulatory outcomes in fetuses with critical pulmonary stenosis (CPS) and pulmonary atresia (PA) with intact ventricular septum (IVS), in order to optimize the indications for fetal pulmonary valvuloplasty (FPV). Methods: This was a retrospective cohort study. A total of 96 fetuses diagnosed with CPS-IVS or PA-IVS at Women and Children's Hospital, Qingdao University between July 2018 and June 2021 were included. Fetuses who did not undergo FPV constituted the modeling cohort, while those who underwent FPV constituted the validation cohort. Fetuses were classified into biventricular and non-biventricular circulation groups based on postnatal circulatory outcomes. Prenatal fetal echocardiographic parameters were compared between groups using independent-samples t test, Mann-Whitney U test, χ2 test or Fisher exact test. Based on inter-group differences, parameters associated with postnatal circulatory outcomes were screened in the modeling cohort. For continuous variables, optimal cut-off values were determined using receiver operating characteristic (ROC) curve and the Youden index and then dichotomized. Right ventricular endocardial fibroelastosis (EFE) was graded as 0, 1 or 2 according to severity. OR of each parameter were calculated, and a multiparametric scoring system was constructed. ROC curve was used to evaluate its predictive performance. Post-FPV outcome improvement was assessed in the validation cohort. Results: Among the 96 fetuses, 78 were assigned to the modeling cohort and 18 to the validation cohort. Postnatally, biventricular circulation was achieved in 56 cases (72%) in the modeling cohort and 13 cases in the validation cohort. In the modeling cohort, the right ventricular long-axis/left ventricular long-axis (RV/LV), tricuspid annulus diameter/mitral annulus diameter (TV/MV) and pulmonary valve annulus/aortic valve annulus (PV/AV) in the non-biventricular group were lower than that in the biventricular group (all P<0.05). The optimal cut-off values for predicting postnatal circulatory outcomes were 0.65, 0.82 and 0.78, respectively. There was statistically significant difference in the distribution of circulatory outcomes between fetuses with grade 2 EFE and those with no or grade 1 EFE (χ2=21.28, P<0.001). Therefore, right ventricular EFE was dichotomized in the model as "none or grade 1" versus "grade 2". Each parameter was assigned a corresponding weight based on its OR value, and an integer score was obtained to construct the scoring system: grade 2 right ventricular EFE was assigned 5 points, RV/LV≤0.65 was assigned 2 points, TV/MV≤0.82 was assigned 2 points, and PV/AV≤0.78 was assigned 1 point, with a maximum total score of 10 points. At cut-off scores of 3, 4, and 5 points, the areas under the curve were 0.88, 0.91, and 0.88, respectively, with the highest specificity (0.95, 95% CI 0.84-0.99) observed at a score threshold of 5 points. In the validation cohort, 15 fetuses had scores ≥5 points, among whom 10 fetuses achieved biventricular circulation after birth, whereas in the modeling cohort, only 1 of 18 fetuses achieved biventricular circulation after birth. Conclusions: A multiparametric scoring system based on prenatal fetal echocardiographic parameters can effectively predict non-biventricular postnatal outcomes in fetuses with CPS-IVS and PA-IVS. By identifying high-risk patients, the indications for FPV can be optimized. 目的: 建立预测胎儿危重型肺动脉狭窄(CPS)和肺动脉闭锁(PA)伴完整室间隔(IVS)出生后循环结局的多参数评分系统,以优化胎儿肺动脉球囊扩张术(FPV)手术指征。 方法: 回顾性队列研究。纳入2018年7月至2021年6月青岛大学附属妇女儿童医院诊断为CPS-IVS和PA-IVS的96例胎儿为研究对象。未接受FPV的胎儿作为建模组,接受FPV的胎儿为验证组。按生后是否实现双心室循环分为双心室组和非双心室组,比较出生前胎儿超声心动图指标,组间比较采用独立样本t检验、Mann-Whitney U检验、χ2检验或Fisher 确切概率法。依据组间差异筛选建模组中与生后循环结局相关的指标,其中计量资料通过受试者工作特征曲线及Youden指数确定最佳截断值并二分类化,右心室心内膜纤维弹力增生(EFE)按程度分为0、1、2级。计算各参数OR并构建多参数评分系统。应用受试者工作特征曲线评价其预测能力。观察验证组FPV后的结局改善情况。 结果: 96例胎儿中建模组78例、验证组18例,分别56例(72%)、13例生后实现双心室循环。建模组中非双心室患儿右心室长轴径/左心室长轴径(RV/LV)、三尖瓣环直径/二尖瓣环直径(TV/MV)、肺动脉瓣环直径/主动脉瓣环直径(PV/AV)均低于双心室患儿(均P<0.05),其预测出生后循环结局的最佳截断值分别为0.65、0.82、0.78。右心室2级EFE与无或1级EFE胎儿在循环结局的分布上差异有统计学意义(χ2=21.28,P<0.001),因此在模型中将右心室EFE二分类为“无或1级”与“2级”。各项参数按其OR值分配相应权重并取整得分后构建评分系统:右心室EFE为2级记5分,RV/LV≤0.65记2分,TV/MV≤0.82记2分,PV/AV≤0.78记1分,总分最高为10分。评分系统在3、4和5分的界值时,曲线下面积分别为0.88、0.91和0.88,评分界值为5分时特异度最高(0.95,95%CI 0.84~0.99)。验证组中,15例评分≥5分,其中10例生后实现双心室循环,而建模组18例中仅1例实现双心室循环。 结论: 基于胎儿期超声心动图多参数构建的评分系统可有效预测CPS-IVS和PA-IVS胎儿出生后的非双心室结局。通过识别高风险者,可优化FPV适应证。.
Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
Background: Patients with single-ventricle physiology represent a high-risk group for heart transplantation. Due to complex anatomical and physiological challenges, including multiple prior sternotomies, pulmonary artery abnormalities, and systemic consequences of altered circulation, they represent both a surgical and a clinical challenge. We aimed to analyze perioperative challenges, as well as early and long-term complications, in this specific group of patients. Methods: We performed a retrospective data analysis of a high-volume heart transplant center, focusing on patients with single-ventricle physiology who were scheduled for heart transplantation due to end-stage heart failure. We retrospectively analyzed the period from the beginning of the transplant program in November 1985 to the end of November 2024. Results: Among 1553 transplanted patients (adults and children), 29 were transplanted due to congenital heart disease (congenital valvular disease not included). In this group, nine patients were transplanted due to end-stage heart failure in the course of single-ventricle physiology. Age at transplantation ranged from 7 to 31 years (median, 17 years), and body weight ranged from 15 to 69 kg (median, 47.9 kg). All nine patients referred for heart transplantation presented with single-ventricle physiology. Their underlying congenital heart defects were heterogeneous and included hypoplastic left heart syndrome (HLHS), double-outlet left ventricle (DOLV), transposition of the great arteries (TGA) with associated ventricular septal defects (VSDs), atrial septal defects (ASDs), valvular abnormalities such as tricuspid and or pulmonary valve atresia or stenosis, systemic or atrioventricular valve regurgitation, and vascular abnormalities, including right-sided aortic arch, aortic coarctation, and pulmonary artery hypoplasia, stenosis, or occlusion, as well as associated pulmonary vascular abnormalities such as left pulmonary artery stenosis and MAPCAs. All patients had previously undergone staged palliative procedures, including Norwood, Hemi-Fontan, Fontan, bidirectional Glenn, modified Blalock-Taussig shunts, Bjork-Fontan, or pulmonary artery banding, often with repeated interventions such as balloon angioplasty, stent placement, or MAPCA closure. Extracardiac comorbidities were common and included coagulopathies, protein-losing enteropathy, hepatic dysfunction, and chronic venous insufficiency. Preoperative functional status was markedly impaired in all patients (NYHA III-IV, INTERMACS 3-4), with severely reduced exercise capacity and thrombotic events in several individuals. Perioperative transplant surgical strategies included femoral cannulation in four cases and standard aortic and caval cannulation in five cases. Pulmonary artery reconstruction was required in all patients. Extended donor pulmonary arteries were applied in eight cases, while a bifurcated Dacron prosthesis was utilized in one patient. Perioperative mortality was 33%, with three deaths attributed to bleeding and hemodynamic instability, while overall mortality was 44% including one late death unrelated to transplantation. Protein-losing enteropathy, although persistent in the immediate postoperative period, resolved in all surviving patients, underscoring the transformative impact of transplantation. Conclusions: These findings emphasize the importance of individualized surgical planning, extended donor pulmonary artery harvesting, and careful preoperative coordination. Heart transplantation remains a viable and life-extending option for selected single-ventricle patients, despite the significant technical and clinical challenges involved.
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Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
Journal of clinical medicinePrenatal Diagnosis of Isolated Congenitally Corrected Transposition of the Great Arteries.
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Therapeutic advances in cardiovascular diseaseOver 40 Years of Experience With Aortic Valve Surgery in the Paediatric Population-What Is the Current Best Strategy?
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryCongenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
Annals of internal medicine. Clinical casesEvolution of the Aorta After Valve Replacement in Bicuspid Aortic Valves: Results at Mid-Term Follow-Up.
Heart, lung & circulation[Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].
Zhonghua er ke za zhi = Chinese journal of pediatricsRobotic aortic valve replacement with a mechanical prosthesis: procedural steps.
Multimedia manual of cardiothoracic surgery : MMCTSPrevalence of cardiac abnormalities in patients with idiopathic scoliosis: a systematic review and meta-analysis.
Spine deformityPrevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
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Clinical case reportsBicuspid and Unicuspid Aortic Valves: Development, Genetics, and Lifelong Management.
The American journal of cardiologyStructure and Function of the Extracellular Matrix in Normal and Pathological Conditions: Looking at the Bicuspid Aortic Valve.
International journal of molecular sciencesPatient-Informed Fluid-Structure Interaction Simulations of Bicuspid Aortic Valve in Young Adults Reveal Regionalized Differences in Mechanical Stress.
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Asian cardiovascular & thoracic annalsTranscatheter treatment of bicuspid aortic valve stenosis.
EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of CardiologyStudy on the Correlation Between Ventricular Function Evaluated by Z-Score of Atrioventricular Annular Plane Systolic Excursion and Pulmonary Artery Abnormality and Retrograde Ductus Arteriosus Flow in Fetuses With Ebstein Anomaly.
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The Journal of innovations in cardiac rhythm managementClarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Left Ventricle Using Multidetector CT Angiography.
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BMC cardiovascular disordersAn Expanding Perspective: Extreme Aortic Dilation in a Patient With Single Ventricle Palliation.
World journal for pediatric & congenital heart surgeryCardiac manifestations in children with osteogenesis imperfecta: A single-center observational study.
International journal of cardiologyMultivalvular infective endocarditis due to streptococcus pluranimalium in a young patient with bicuspid aortic valve.
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Frontiers in pediatricsAssessing the Utility of Targeted Neonatal Echocardiography for Congenital Heart Disease Detection: Retrospective Cohort Analysis.
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The Annals of thoracic surgeryAortopathy associated with bicuspid aortic valve: advances in clinical and hemodynamics research.
Frontiers in physiologySurgical Management of Congenital Aortic and Truncal Valve Disease: A Comprehensive Review.
Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annualChildren are Less Likely Than Adults to Develop Complete Heart Block Following TAVR.
Pediatric cardiologyAortic atresia with complex aortic arch collateralization through the subclavian arteries.
Annals of pediatric cardiologyAge Differences in Aortic Stenosis.
Reviews in cardiovascular medicineThe Role of First-Trimester Ultrasound in Detecting Aortic and Pulmonary Valve Agenesis: A Rare Case of Trisomy 13.
Journal of clinical ultrasound : JCUBicuspid aortic valve disease: advancements and challenges of transcatheter aortic valve implantation.
European heart journalSurgical Aortic Valve Replacement For Bicuspid And Tricuspid Valve Disease: 7-Year Outcomes In >1100 Patients.
Portuguese journal of cardiac thoracic and vascular surgeryBicuspid Aortic Valve among Children Presenting in Two Health Institutions in Enugu, South-East Nigeria.
Nigerian journal of clinical practicePatent Ductus Arteriosus with Left to Right Shunting Exacerbating Aortic Valve Stenosis.
Methodist DeBakey cardiovascular journalThe utility of neocuspidization in the surgical management of congenital aortic valve pathology: mid-term results of single-center experience with AVNeo procedure in children.
General thoracic and cardiovascular surgeryPhysical activity characteristics in adults with bicuspid aortic valve versus age- and sex-matched controls.
International journal of cardiologyThe Combined Risk of Marfan Syndrome and Bicuspid Aortic Valve in the Elderly.
CureusAutomated, Standardized, Quantitative Analysis of Cardiovascular Borders on Chest X-Rays Using Deep Learning.
JACC. AdvancesTranscatheter aortic valve replacement via direct aortic access for severe aortic stenosis with double aortic arch.
Journal of surgical case reportsAnomalous left coronary artery from the pulmonary artery: A case report of ALCAPA syndrome with bicuspid aortic valve.
MedicineA Rare Combination: A Right Atrial Myxoma Located at the Superior Margin of the Fossa Ovalis, in Conjunction With a Congenitally Bicuspid Aortic Valve.
Journal of clinical ultrasound : JCUSurgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.
World journal for pediatric & congenital heart surgeryRight Atrial Appendage for Aortic Valve Reconstruction.
The Annals of thoracic surgeryTwo-dimensional speckle tracking of the ascending aorta: a novel approach to evaluate arterial stiffness in pediatric patients with repaired conotruncal anomalies using echocardiography.
Frontiers in cardiovascular medicineAnatomical Left Superior Vena Cava Correction: An Option for Left Ventricular Recruitment?
The Thoracic and cardiovascular surgeonCatheter for Hemodialysis in Persistent Left Superior Vena Cava in a Patient with Aortic Valve Endocarditis.
Brazilian journal of cardiovascular surgeryPrevalence, clinical characterization, management and evolution of bicuspid aortic valve classified according to the 2021 International Consensus Statement in a tertiary care hospital.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryQuadricuspid aortic valve in an asymptomatic young adult: a case report.
Annals of medicine and surgery (2012)Endocardial-to-mesenchymal transition underlies cardiac outflow tract septation and bicuspid aortic valve formation in the Syrian hamster model.
Scientific reports[Diagnostic characterization and morbi-mortality in pediatric patients with diagnosis of vascular ring].
Archivos de cardiologia de MexicoBicuspid Aortic Valves (BAV) Registry (RE-BAV): Clinical and echocardiographic characteristics of patients with BAV according to novel classification of bicuspid aortic valves.
Kardiologia polskaMultimodal imaging in the assessment of quadricuspid aortic valve.
Journal of cardiothoracic surgeryRepair of aorto-left ventricular tunnel type IV with origin above the left main coronary artery.
Multimedia manual of cardiothoracic surgery : MMCTSFactors Predicting Early Outcome of Aortic Valve Neocuspidization in the Pediatric Population.
Pediatric cardiologyReinterventions in patients with congenital aortic stenosis and a commissurotomy.
Open heartAorto-Left Ventricular Tunnel: The First Systematic Review of An Uncommon Entity (177 Worldwide Cases from 1965 to 2024).
Reviews in cardiovascular medicineSurgical Ligation of Isolated Type I Aortopulmonary Window Without Cardiopulmonary Bypass is a Safe and Cost-Effective Surgical Technique.
World journal for pediatric & congenital heart surgeryStaged biventricular repair in aortic hypoplasia: the value of intraoperative myocardial perfusion.
Multimedia manual of cardiothoracic surgery : MMCTSThe hemi-Yacoub procedure and valve repair in a patient with Turner syndrome and bicuspid aortic valve.
Multimedia manual of cardiothoracic surgery : MMCTSCobrahead reimplantation of anomalous coronary arteries arising from the left coronary sinus.
Multimedia manual of cardiothoracic surgery : MMCTSComplex congenital heart and lung defects as a cause of hydrops fetalis in French bulldogs -micro-CT with contrast study.
Scientific reportsImpact of Atretic Aortic Valve on Systemic Ventricular Function After the Norwood Procedure.
The Annals of thoracic surgerySuspected Transient Ischemic Attack Related to Dysfunctional Quadricuspid Aortic Valve.
Journal of investigative medicine high impact case reportsHypertension at diagnosis of coarctation of the aorta as a risk factor for recoarctation.
Pediatric researchA Case of a Newborn Presenting With a VACTERL-Like Association.
CureusAortopathy in repaired tetralogy of Fallot and David procedure.
Cardiovascular diagnosis and therapyUnicuspid unicommissural aortic valves: A surgical pathology analysis.
Indian journal of pathology & microbiologySurgical treatment experience of seven cases of Berry syndrome.
Journal of cardiothoracic surgeryCan we diagnose aortic arch obstruction in a fetus with an atrioventricular septal defect?
Cardiology in the youngBicuspid aortic valve repair with autologous aortic wall patches in an adolescent with acute severe regurgitation after balloon dilatation.
Multimedia manual of cardiothoracic surgery : MMCTSContribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
Heart (British Cardiac Society)[An unusual case of bicuspid aortic valve in adult age].
Giornale italiano di cardiologia (2006)The Congenitally Malformed Aortic Valve in Type A Aortic Dissection: Its Frequency and Consequences.
The American journal of cardiologySevere acute recoil following transcatheter aortic valve replacement with a self-expanding prosthesis in a heavily calcified bicuspid aortic valve.
Future cardiologyDo anomalous aortic origin of a coronary artery patients have higher risk of myocardial ischaemia and adverse cardiac events during aortic and mitral valve replacements?
Cardiology in the youngQuadricuspid aortic valve with complete heart block: a double whammy.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyMultiple cell types including melanocytes contribute to elastogenesis in the developing murine aortic valve.
Scientific reportsZebrafish arterial valve development occurs through direct differentiation of second heart field progenitors.
Cardiovascular researchA Concise Review of Marfan Syndrome with a Congenital Cardiac Surgery Focus.
Cardiology in reviewPacemaker Implantation for Low-Grade Conduction Abnormalities After Balloon-Expandable Transcatheter Aortic Valve Implantation.
Clinical cardiologyUnicuspid aortic valve repair in a neonate.
Multimedia manual of cardiothoracic surgery : MMCTSCurrent evidence of unicuspid aortic valve in young adults: A systematic review and metanalysis.
Current problems in cardiologyMitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Journal of the American Heart AssociationEffect of aortic valve phenotype and sex on aorta dilation in patients with aortic stenosis.
Open heartSurgical outcome of the borderline hypoplastic left ventricle: impact of the left ventricle rehabilitation strategy.
Cardiology in the youngBullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?
American journal of medical genetics. Part AUnraveling aortic hemodynamics using fluid structure interaction: biomechanical insights into bicuspid aortic valve dynamics with multiple aortic lesions.
Biomechanics and modeling in mechanobiologyAortic root replacement for bicuspid aortic valve dysfunction does not impair survival rates.
Journal of cardiothoracic surgery[Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPrevalence of cardiomyopathy and cardiac mortality in a colony of non-purebred cats in New Zealand.
New Zealand veterinary journalPathogenesis and Surgical Treatment of Congenitally Corrected Transposition of the Great Arteries (ccTGA): Part III.
Journal of clinical medicineAssessment of abnormal transvalvular flow and wall shear stress direction for pediatric/young adults with bicuspid aortic valve: A cross-sectional four-dimensional flow study.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceQuadricuspid aortic valve in a 16-year-old Quarter horse.
Journal of equine veterinary scienceStudy on ultrasound diagnosis and pathological anatomy of fetal complex congenital heart disease in the first trimester.
Journal of clinical ultrasound : JCUSingle ventricle palliation in congenitally corrected transposition of the great arteries: An international multicenter study.
The Journal of thoracic and cardiovascular surgeryQuadricuspid aortic valve and its rare association with left main obstruction: case report and literature review.
Future cardiology"One-stop" interventional therapy for quadricuspid aortic valve combined with severe coronary artery disease: a case report.
Journal of cardiothoracic surgeryFurther Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.
American journal of medical genetics. Part ADeficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.
Disease models & mechanismsShort-Term Results With Ozaki Valved Conduit-A Simple Solution for Patients Needing Right Ventricle to Pulmonary Artery Conduit in a Low-Resource Setting.
World journal for pediatric & congenital heart surgeryRare genomic copy number variants implicate new candidate genes for bicuspid aortic valve.
PloS oneWhole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
American journal of human geneticsDouble-orifice mitral valve associated with mild mitral stenosis and coarctation of the aortic isthmus: A rare case of incomplete form of Shone's syndrome.
Echocardiography (Mount Kisco, N.Y.)State of the Art Review: Aortic Valve Repair in Infants and Children.
The Annals of thoracic surgeryNationwide Birth Prevalence of Crucial Congenital Heart Defects From 2014 to 2018 in Korea.
Korean circulation journalDurability of Aortic Homografts in Pulmonary Atresia and Major Aortopulmonary Collateral Arteries.
World journal for pediatric & congenital heart surgeryCalcific Aortic Stenosis - Inflammatory Disease.
Ceskoslovenska patologieImpact of training data composition on the generalizability of convolutional neural network aortic cross-section segmentation in four-dimensional magnetic resonance flow imaging.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceThe impact of congenital heart disease on treatment and survival of patients with hepatoblastoma: A single-center experience.
Pediatric blood & cancerManagement of bicuspid aortic valve disease in the transcatheter aortic valve implantation era.
Heart (British Cardiac Society)Pulmonary Artery Banding and Arch Repair vs Norwood for Unbalanced Atrioventricular Canal Defect.
The Annals of thoracic surgeryClinical presentation and surgical outcomes in patients with Shone's complex: a systematic review.
General thoracic and cardiovascular surgery"Unkinking" the "Kink" Normalizes the Doppler Pattern.
Diagnostics (Basel, Switzerland)Pediatric Quadricuspid Aortic Valve: Morphology, Characteristics, Clinical Outcomes, and Literature Review.
World journal for pediatric & congenital heart surgeryPatients with a Bicuspid Aortic Valve (BAV) Diagnosed with ECG-Gated Cardiac Multislice Computed Tomography-Analysis of the Reasons for Referral, Classification of Morphological Phenotypes, Co-Occurring Cardiovascular Abnormalities, and Coronary Artery Stenosis.
Journal of clinical medicineBicuspid Aortic Valve Function and Aortopathy on Presentation and Progression in Children: Does Sex Difference Have Any Implications?
Pediatric cardiologyRationale and design of the SPREAD study: Sport Practice and its Effects on Aortic Size and Valve Function in Bicuspid Aortic Valve Disease.
The Journal of sports medicine and physical fitnessAtrial and Ventricular Arrhythmia in Adults With Shone Complex: A Single-Center Cohort Study.
JACC. AdvancesPseudoaneurysm of the mitral-aortic intervalvular fibrosa in children diagnosed by echocardiography: Two case reports.
Journal of clinical ultrasound : JCUClinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.
Advances in experimental medicine and biologyMolecular Pathways and Animal Models of Semilunar Valve and Aortic Arch Anomalies.
Advances in experimental medicine and biologyHuman Genetics of Semilunar Valve and Aortic Arch Anomalies.
Advances in experimental medicine and biologyClinical Presentation and Therapy of Semilunar Valve and Aortic Arch Anomalies.
Advances in experimental medicine and biologyClinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle.
Advances in experimental medicine and biologyLifetime Management of Adolescents and Young Adults with Congenital Aortic Valve Disease.
The Annals of thoracic surgeryParachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.
European journal of case reports in internal medicineAortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.
Clinical epigeneticsPrevalence and incidence of chest wall deformities in children below 18 years old: the first systematic review and meta-analysis.
Archives of medical science : AMSMyosin Heavy Chain 7 (MYH7) Variant Associated Cardiovascular Disease: An Unusual Case of Heart Failure in a Young Male.
CureusUncommon presentations of type A quadricuspid aortic valve in the Septuagenarian.
Journal of cardiothoracic surgeryIdentification of congenital aortic valve malformations in juvenile natriuretic peptide receptor 2-deficient mice using high-frequency ultrasound.
American journal of physiology. Heart and circulatory physiologyHydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog.
BMC veterinary researchBilateral pulmonary artery banding facilitates the systemic ventricular outflow tract growth for biventricular and univentricular repair candidates of complex arch anomaly.
Heart and vesselsQuadricuspid Aortic Valve: Interesting Images.
Annals of cardiac anaesthesiaOutcomes of Bicuspid Aortic Valve in Pregnancy.
The American journal of cardiologyLong-term outcomes after aortic root replacement for bicuspid aortic valve-associated aneurysm.
The Journal of thoracic and cardiovascular surgeryQuadricuspid Aortic Valve: Imaging, Diagnosis, and Prognosis.
Texas Heart Institute journalIlluminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Diagnostics (Basel, Switzerland)Unicommissural unicuspid aortic valve (UAV) presenting as ascending aortic aneurysm with aortic dissection.
Echocardiography (Mount Kisco, N.Y.)Quantifying aortic valve regurgitation in patients with congenital aortic valve disease by 2D and 4D flow magnetic resonance analysis.
International journal of cardiologyClinical features of quadricuspid aortic valve in middle-aged and elderly patients: Insights from a regional study.
Echocardiography (Mount Kisco, N.Y.)Ventricular arrhythmias in patients with bicuspid aortic valves.
Journal of cardiovascular electrophysiologyAsymptomatic giant ascending aortic aneurysm: a challenging surgical strategy for a silent bicuspid aortopathy.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del toraceEvaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.
Frontiers in endocrinologyMorphology, Clinical Associations, and Pathologic Follow-up of Quadricuspid Aortic Valves in Children.
Pediatric cardiologyEchocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.
Orphanet journal of rare diseasesRisk stratification by systemic manifestations secondary to hemodynamic disorders of patients with severe tricuspid regurgitation.
BMC cardiovascular disordersPatient-specific analysis of bicuspid aortic valve hemodynamics using a fully coupled fluid-structure interaction model.
Computers in biology and medicineHypoplastic Left Heart Syndrome with Mitral Stenosis and Aortic Atresia-Echocardiographic Findings and Early Outcomes.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyNavigating the challenges of bicuspid aortic valve-aortopathy.
Global cardiology science & practiceAssociation of Prenatally Diagnosed Isolated Single Left Superior Vena Cava and Postnatal Development of Coarctation of the Aorta.
Pediatric cardiologyThe Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report.
CureusAn Unlucky Four-Leaf Clover Stenosis With a Single Coronary Artery.
CureusRisk Factors for Coronary Artery Complications After Prosthetic Pulmonary Valve Implantation in Patients With Congenital Heart Disease.
Circulation journal : official journal of the Japanese Circulation Society[Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes].
Archivos de cardiologia de MexicoA Y-incision to enlarge the aortic root for aortic valve stenosis with anomalous aortic origin of the right coronary artery.
Journal of cardiothoracic surgery[Diagnosis and surgical treatment of high-risk anomalous aortic origin of coronary artery].
Zhonghua wai ke za zhi [Chinese journal of surgery]An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.
Journal of investigative medicine high impact case reportsUse of transillumination echocardiography in the assessment and diagnosis of bicuspid aortic valve.
Echocardiography (Mount Kisco, N.Y.)Hemodynamics, anatomy, and outcomes of quadricuspid aortic valves: Multimodality imaging assessment.
Journal of cardiovascular computed tomographyBicuspid aortic valve: The most frequent and not so benign congenital heart disease.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologySimulation-based design of bicuspidization of the aortic valve.
The Journal of thoracic and cardiovascular surgeryAortic valve leaflets are asymmetric and correlated with the origin of coronary arteries.
Translational pediatricsHeart transplantation using a donor heart with repaired tetralogy of Fallot: a case report.
European heart journal. Case reportsA rare and unique case: aortic valve replacement in a young adult with a stenotic unicommissural unicuspid aortic valve.
Future cardiologyAortic valvar atresia with a normal-sized left ventricle in an adolescent.
Cardiology in the youngPartial Heart Transplant in a Neonate With Irreparable Truncal Valve Dysfunction.
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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.
- Molecular Calcification Imaging and Ascending Aortic Disease in Patients With a Bicuspid Aortic Valve.
- Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
- Evolution of the Aorta After Valve Replacement in Bicuspid Aortic Valves: Results at Mid-Term Follow-Up.
- [Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].
- Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
- Aortic valve neocuspidization in children: A systematic review and meta-analysis.
- Modification of Nicks Technique for Aortic Annular Enlargement in Children.
- Using preoperative cardiac computed tomographic conduction axis prediction to avoid damage in congenital left ventricular outflow tract and aortic valve surgery.
- Long-term outcomes of aortic valve repair in children after infancy.
- Over 40 Years of Experience With Aortic Valve Surgery in the Paediatric Population-What Is the Current Best Strategy?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:95448(Orphanet)
- MONDO:0019808(MONDO)
- GARD:19260(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55788885(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
