Cateterismo cardíaco, Cinecoronariografia, Angiografia Coronária ou Estudo Hemodinâmico é um exame invasivo para examinar vasos sanguíneos e o interior do coração. O acesso ao interior do coração é feito através de um tubo longo, fino e flexível, chamado cateter, geralmente com cerca de 2,5 milímetros de diâmetro e 1 metro de comprimento, colocado por um vaso sanguíneo periférico do braço, da coxa ou do pescoço. Tem como objetivo corrigir problemas em veias e artérias, como obstruções.
Introdução
O que você precisa saber de cara
Malformação mitral congênita é uma condição rara que afeta a valva mitral, podendo causar regurgitação ou estenose. Frequentemente associada a características como estatura alta desproporcional, palato alto e estreito, e pectus excavatum.
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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
+ 1 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 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
Genes associados
2 genes identificados com associação a esta condição.
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)
Cell membrane
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.
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
Cytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satelliteCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleNucleusNucleus speckleCytoplasm
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.
Variantes genéticas (ClinVar)
332 variantes patogênicas registradas no ClinVar.
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 — Malformação mitral congênita
Centros de Referência SUS
24 centros habilitados pelo SUS para Malformação mitral congênita
Centros para Malformação mitral 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
Transcatheter Mitral and Aortic Paravalvular Leak Closure: Innovations, Challenges, and Future Directions.
Paravalvular leak (PVL) is a well-known complication of valve replacement, occurring in up to 10% of aortic and 17% of mitral prosthetic valves. Although many leaks are small and clinically insignificant, ≈1% to 5% of cases are associated with clinically relevant complications, such as heart failure symptoms and hemolytic anemia. Surgical reoperation is currently considered the first-line option; however, it encompasses high mortality and morbidity risks. In the past years, transcatheter PVL closure has proven to be highly effective when performed in experienced centers. Transcatheter PVL closure requires advanced imaging modalities, specialized materials, and techniques, reflecting the high complexity of the procedure. We review the complex nature of PVL, including its diagnostic workup and the available transcatheter treatment strategies, with a special focus on the treatment of mitral and aortic PVL using plugging devices.
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.
Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by mutations in the NF1 gene. Although cardiac abnormalities have been observed in NF1, they are frequently overlooked due to a lack of routine cardiac surveillance. Myocardial strain imaging offers a sensitive and non-invasive method for detecting early subclinical myocardial dysfunction. This study aims to detect cardiac abnormalities in children with NF1 using conventional echocardiography, Doppler tissue imaging (DTI), and myocardial strain analysis. A case-control study was conducted on 38 asymptomatic children with clinically confirmed NF1 and 35 healthy, age- and sex-matched controls. All patients underwent ECG, conventional echocardiography, DTI, and two-dimensional speckle-tracking echocardiography. NF1 patients showed significantly decreased ejection fraction (p = 0.0009) and higher interventricular septal and posterior wall thickness during systole (p < 0.0001). DTI revealed reduced mitral systolic (Sm) and early diastolic (Em) velocities, longer isovolumic contraction and relaxation periods, and increased LV Tei index values (p < 0.0001), indicating combined systolic and diastolic dysfunction. Also, myocardial strain analysis in NF1 children revealed considerably lower peak systolic left ventricular global longitudinal strain (LVGLS) (p 0.0014), as well as lower peak systolic septal and lateral wall strain values (p 0.0046, 0.0027), respectively. Conclusion: Children with NF1 show early subclinical myocardial dysfunction, even when there is no hypertension or overt cardiac symptoms. These findings highlight the significance of frequent echocardiographic screening, including strain imaging, for the early diagnosis and longitudinal monitoring of heart function in NF1 children. What is Known: • Neurofibromatosis type 1 (NF1) is a multisystem syndrome that can involve the cardiovascular system. • Previous studies showed hypertrophic cardiac changes in NF1 patients, but data in children, especially those without hypertension, are limited, as routine echocardiography is not involved in NF1 management. What is New: • Our study revealed early subclinical myocardial dysfunction in NF1 children without the presence of hypertension or overt cardiac symptoms. • This emphasizes the potential of myocardial strain imaging as a sensitive tool for early detection of myocardial dysfunction in NF1 children, thereby supporting the need for routine echocardiographic surveillance in these patients.
[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。.
Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.
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Journal of ultrasonography80 Years After the First Blalock-Thomas-Taussig Shunt: Cardiac Research in Canines That Saved Lives.
The Journal of surgical research[Contribution of echocardiographic tele-expertise to the management of congenital heart diseases : Experience from Burkina Faso].
Annales de cardiologie et d'angeiologieThirty years of left atrioventricular valve reoperations following atrioventricular septal defect repair: Impact of valvar stenosis.
The Journal of thoracic and cardiovascular surgerySurgical repair for an anomalous left coronary artery from the pulmonary artery and mitral regurgitation in a symptomatic adult woman.
Asian cardiovascular & thoracic annalsAccessory mitral valve tissue causing left ventricular outflow tract obstruction associated with subaortic membrane and aortic sinus aneurysm: A case report and literature review.
The Journal of international medical researchUnderstanding the hemodynamic changes in fetuses with coarctation of the aorta using a lumped model of fetal circulation.
PLoS computational biologyRight and left ventricular filling in adult patients with repaired tetralogy of fallot: a 4D flow MRI study.
The international journal of cardiovascular imagingSurgical repair of partial atrioventricular septal defect (pAVSD) in adulthood: A rare case report.
International journal of surgery case reportsDon't Miss the Warning Signs: Syncope Masquerading as a Major Congenital Heart Defect in a 42-Year-Old Patient.
CureusShone᾽s complex in pediatric age group: clinical characteristics, structural components, interventions, and outcomes of a cohort from a single center.
BMC pediatricsSurgical Intervention in Pediatric Marfan Syndrome: A Multiinstitutional Study.
World journal for pediatric & congenital heart surgeryMultimodal Management of Complex Congenital Heart Disease: A Case of Atrial and Ventricular Septal Defects With a Bifid Apex.
CureusClinical features of non-compaction cardiomyopathy across age groups: a retrospective study of 415 patients.
Open heartAsymptomatic Isolated Congenitally Corrected Transposition of the Great Arteries in a 25-Year-Old Male: A Case Report.
Journal of investigative medicine high impact case reportsInsidious clinical presentation of uncommon infective endocarditis caused by Cardiobacterium species.
The new microbiologicaAutomated, Standardized, Quantitative Analysis of Cardiovascular Borders on Chest X-Rays Using Deep Learning.
JACC. AdvancesAcquired bilateral atrio-ventricular valvular stenosis in a complex single-ventricle physiology following superior cavo-pulmonary connection.
BMJ case reportsLeft Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report.
The American journal of case reportsNormal fetal echocardiography ratios - a multicenter cross-sectional retrospective study.
Journal of perinatal medicineThe Fate of the Left Atrioventricular Valve After Atrioventricular Septal Defect Repair: Long-Term Outcomes.
Pediatric cardiologyMicrospherophakia with an atypical temporal iris coloboma in a young female.
BMJ case reportsAnatomical Left Superior Vena Cava Correction: An Option for Left Ventricular Recruitment?
The Thoracic and cardiovascular surgeonAccessory Mitral Valve Tissue in Both Obstructive and Nonobstructive Hypertrophic Cardiomyopathy Cases.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirThe outcomes of reoperation for congenital mitral valve diseases in children.
BMC surgeryAortic stiffness assessed by blood pressure and echocardiography in young and normotensive patients with isolated aortic coarctation versus those with aortic coarctation and ventricular septal defect.
Cardiology in the youngSecond trimester echocardiography.
Best practice & research. Clinical obstetrics & gynaecologyGenotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
Clinical geneticsLeft Atrial Mitral Valve Chordae Which Disturbed the Mitral Leaflet Motion and Induced Mitral Regurgitation.
Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of AsiaParachute-Like Mitral Valve and Associated Congenital Abnormalities Diagnosed With Multimodality Imaging.
CASE (Philadelphia, Pa.)Left Ventricle to Left Atrial Communication: An Intriguing Echocardiographic Finding.
Journal of cardiothoracic and vascular anesthesiaVentricular Assist Device Implantation in a Patient Congenitally Corrected Transposition of the Great Arteries With I, D, D.
ASAIO journal (American Society for Artificial Internal Organs : 1992)Postoperative atrioventricular block after surgery for congenital heart disease: incidence, recovery and risks.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryClosure of perimembranous ventricular septal defects using the Amplatzer vascular plug II: experience of a Mexican centre.
Cardiology in the youngFenestrated membrane of the left atrial appendage orifice; an incidental finding of a rare congenital anomaly.
BMC cardiovascular disordersMultimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.
Echocardiography (Mount Kisco, N.Y.)Characterization and Localization of Focal Atrial Tachycardia in Patients With Adult Congenital Heart Disease.
JACC. Clinical electrophysiologyEndoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.
Journal of clinical medicineSurgical treatment of anomalous aortic origin of the coronary artery in paediatric patients: a Chinese single-center experience.
BMC surgeryLightning Can Strike Twice: Management of an Infant With Anomalous Left Coronary Artery from the Pulmonary Artery Complicated by Coccidioidomycosis Infection.
World journal for pediatric & congenital heart surgeryEbstein's anomaly in children and young adults: clinical features, arrhythmia, surgical management, and factors affecting arrhythmia and mortality.
Cardiology in the youngEchocardiographic predictors of surgical outcomes in pulmonary atresia with intact ventricular septum and development of a discriminatory calculator: an Australian tertiary institution experience.
Cardiology in the young[Techniques of Atrial, Ventricular Incision and Closure].
Kyobu geka. The Japanese journal of thoracic surgeryThe Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.
International journal of molecular sciencesCase presentation: successful occlusion of congenital left ventricle to coronary sinus fistula.
Cardiology in the youngManagement of Tricuspid Atresia With Normally Related Great Arteries and Left-Sided Obstruction.
World journal for pediatric & congenital heart surgeryAnticoagulation with warfarin for paediatric cardiac indications: a retrospective study.
Cardiology in the youngDo 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 youngPrimary cardiac myxofibrosarcoma in a patient with Ebstein's anomaly: First reported case.
International journal of surgery case reportsAccidental finding of ALCAPA in a child with severe mitral regurgitation: A case study.
Asian cardiovascular & thoracic annalsA Concise Review of Marfan Syndrome with a Congenital Cardiac Surgery Focus.
Cardiology in reviewMitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Journal of the American Heart AssociationPrevalence of cardiomyopathy and cardiac mortality in a colony of non-purebred cats in New Zealand.
New Zealand veterinary journalLeft atrial mitral valve cord: Unveiling complexity through advanced 3D TEE imaging - A case report.
Radiology case reportsSurgical management of congenital mitral stenosis in a patient with Kabuki syndrome.
Cardiology in the youngA rare case of inferior sinus venosus atrial septal defect and concomitant hypoplasia of the posterior mitral valve leaflet.
Echocardiography (Mount Kisco, N.Y.)Libman-Sacks Endocarditis in a Congenital Valve Defect: A Case Report.
CureusBirth in the Operating Room for Immediate Cardiac Surgery: A Rare but Effective Strategy.
World journal for pediatric & congenital heart surgeryA 10-year-old female with Cor triatriatum sinister (CTS): a rare case report and literature review from Syria.
Annals of medicine and surgery (2012)Double-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.)Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease.
The Journal of thoracic and cardiovascular surgeryPathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.
Journal of clinical medicine[Risk factors analysis and prediction model construction of major adverse cardiovascular events in pregnant women with valvular heart disease].
Zhonghua fu chan ke za zhiUse of cardiac gated computed tomography in the diagnosis of a rare congenital cardiovascular anomaly in an adult alpaca.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationThe Anterior Mitral Valve Leaflet Prolapse as a Key to Diagnosis of ALCAPA Syndrome.
Journal of the American College of CardiologyFetal heart quantification technique improves the prenatal prediction of coarctation of the aorta: A retrospective analysis.
Biomolecules & biomedicinePresentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report.
Journal of medical case reportsRight ventricular function in Marfan patients remains stable despite multiple cardiac interventions.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryA rare presentation of an accessory mitral valve chordae.
The international journal of cardiovascular imagingClinical presentation and surgical outcomes in patients with Shone's complex: a systematic review.
General thoracic and cardiovascular surgeryIncidental Findings of Congenital Unileaflet Mitral Valves in Young Patient Presenting Complete Atrioventricular Block.
Pediatric cardiologyOutcomes following multivalve reoperation in adults with congenital heart disease: A 30-year, single-center study.
The Journal of thoracic and cardiovascular surgeryParachute tricuspid valve unique case and the first case in Somalia.
Radiology case reportsHypovolemic Shock And The Need For Invasive Mechanical Ventilation On A Patient With Congenital Heart Disease.
Portuguese journal of cardiac thoracic and vascular surgeryAtrial and Ventricular Arrhythmia in Adults With Shone Complex: A Single-Center Cohort Study.
JACC. AdvancesFrom asymptomatic adult patient to cardiopulmonary resuscitation - treatment of ALCAPA with total arterial myocardial revascularisation and mitral valve repair.
Journal of cardiothoracic surgeryExploring new frontiers: a rare case of catheter ablation for persistent atrial fibrillation in a patient with cor triatriatum sinister guided by intracardiac echocardiography.
Journal of cardiothoracic surgeryPseudoaneurysm of the mitral-aortic intervalvular fibrosa in children diagnosed by echocardiography: Two case reports.
Journal of clinical ultrasound : JCUHuman Genetics of Hypoplastic Left Heart Syndrome.
Advances in experimental medicine and biologyClinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.
Advances in experimental medicine and biologyClinical Presentation and Therapy of Atrioventricular Septal Defect.
Advances in experimental medicine and biologyChallenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants.
BMJ case reportsAortic 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 : AMSHigh-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
International journal of molecular sciencesInfant Barlow's Disease in Association with Atrial Septal Defect.
Brazilian journal of cardiovascular surgeryConcomitant large atrial septal defect closure, biatrial cryoablation and tricuspid valve replacement with mitral homograft.
Asian cardiovascular & thoracic annalsIlluminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Diagnostics (Basel, Switzerland)Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.
Texas Heart Institute journalRare and potentially lethal case of a round lesion in the lung.
BMJ case reportsWnt Signaling Inhibition Prevents Postnatal Inflammation and Disease Progression in Mouse Congenital Myxomatous Valve Disease.
Arteriosclerosis, thrombosis, and vascular biologyEchogenic intracardiac foci detection and location in the second-trimester ultrasound and association with fetal outcomes: A systematic literature review.
PloS oneRevealing the true nature of a parachute mitral valve during an ultra-trail race.
Journal of science and medicine in sportInsights into the Inherited Basis of Valvular Heart Disease.
Current cardiology reportsALCAPA in Children with Complex Congenital Heart Disease: A Multicenter Study.
Pediatric cardiologyCardiac evaluation in pregnant patients with dyspnea and palpitations.
American journal of obstetrics & gynecology MFMCongenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Diagnostics (Basel, Switzerland)Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.
The Turkish journal of pediatricsSuccessful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationEchocardiographic 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 disordersGiant aneurysm of the left atrial appendage: a case report.
European heart journal. Case reportsHypoplastic 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 EchocardiographyAnesthetic management of pulmonary artery banding in adult patient with single ventricle and uncorrected transposition of the great arteries.
Revista espanola de anestesiologia y reanimacionMultimodality Imaging of a Mass Arising from a Cor Triatriatum Sinister Membrane.
Radiology. Cardiothoracic imagingInterventions for Mitral Valve Dysfunction in the Presence of Mitral Annular Calcification: Is There a Preferred Approach?
Journal of cardiothoracic and vascular anesthesiaDifferential Clubbing and a Triad of Patent Ductus Arteriosus, Ventricular Septal Defect and Supravalvular Ring Mitral Stenosis: A Case Report.
West African journal of medicineMitral valve orifice area predicts outcome after biventricular repair in patients with hypoplastic left ventricles.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceMaxillary Odontoma Associated With Noonan Syndrome: A Case Report.
CureusTotally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report.
Journal of cardiothoracic surgeryThe Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report.
CureusMitral valve repair using leaflet expansion and subpartial annuloplasty in children.
JTCVS techniquesNAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report.
MedicineResults of the Double Switch Operation in Patients Who Previously Underwent Left Ventricular Retraining.
World journal for pediatric & congenital heart 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 reportsUsefulness of perioperative transoesophageal echocardiography during paediatric cardiac surgery.
Archives of cardiovascular diseasesA short RP tachycardia in congenitally corrected transposition. What is the mechanism?
Pacing and clinical electrophysiology : PACEIdentification of Congenital Valvular Murmurs in Young Patients Using Deep Learning-Based Attention Transformers and Phonocardiograms.
IEEE journal of biomedical and health informaticsRight Ventricular-Pulmonary Arterial Coupling and All-Cause Mortality in Patients with Mitral Annular Calcification-Related Mitral Valve Dysfunction.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyHemodynamics in Adults with Systemic Right Ventricles: Differences Between Congenitally Corrected and Complete Transposition of the Great Arteries.
Pediatric cardiologyRevolutionizing cardiovascular care: the power of histotripsy.
Journal of ultrasoundUnderstanding the cell fate and behavior of progenitors at the origin of the mouse cardiac mitral valve.
Developmental cellDiagnostic accuracy of prenatal ultrasound in coarctation of aorta: systematic review and individual participant data meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyAortic valvar atresia with a normal-sized left ventricle in an adolescent.
Cardiology in the youngEchocardiographic values and prevalence of cardiac abnormalities in clinically healthy adult Borzoi dogs.
American journal of veterinary researchIntroduction of transcatheter edge-to-edge repair in patients with congenital heart disease at a children's hospital.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsFilamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.
Heart (British Cardiac Society)Perioperative and Anesthetic Considerations in Shone's Complex.
Seminars in cardiothoracic and vascular anesthesiaFetal single ventricle journey to first postnatal procedure: a multicentre UK cohort study.
Archives of disease in childhood. Fetal and neonatal editionCurrent use of real-time three-dimensional transthoracic echocardiography in animals.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary CardiologyRole of 3D transoesophageal echocardiography in correct diagnosis of congenital isolated double orifice mitral valve in a young adult misdiagnosed as rheumatic heart disease.
BMJ case reportsSuccessful surgical management of large pulmonary artery thrombosis in a patient with primary severe mitral regurgitation and complex congenital heart disease: A case report.
International journal of surgery case reportsObstructed Supramitral Inflow: Cor Triatriatum Sinister Presentation in Adulthood.
Journal of cardiothoracic and vascular anesthesiaDouble-orifice mitral valve and partial atrioventricular septal defect: A rare combination.
Asian journal of surgeryAn adult case of giant congenital left atrial wall aneurysm.
Journal of cardiology cases[SARS-CoV-2-induced non-bacterial endomyocarditis with the development of acquired heart defects].
Arkhiv patologiiPrognostic utility of a risk prediction model for predischarge major residual lesions or unplanned reinterventions following congenital mitral valve repair.
The Journal of thoracic and cardiovascular surgeryCor Triatriatum: A Review.
Cardiology in reviewMitral Valve Abnormalities Associated with Single-Ventricle Palliation, Cardiac Death or Transplant in Fetuses with Postnatally Confirmed Coarctation of the Aorta.
Pediatric cardiologyAssociações
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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.
- Transcatheter Mitral and Aortic Paravalvular Leak Closure: Innovations, Challenges, and Future Directions.
- Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.
- Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
- [Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].
- Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
- Uni-leaflet mitral valve in adults: a systematic review of case reports and case series.
- Optimizing long-term outcomes in pediatric mitral valve repair: A focus on posterior leaflet augmentation.
- Congenital Mitral Rings: Insights From a Single-Institution Study and Review of Current Literature.
- Mechanisms of mitral valve development and disease.
- Adult Presentation of Congenital Mitral Stenosis: The Challenges of a True Parachute Mitral Valve.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2447(Orphanet)
- MONDO:0016582(MONDO)
- GARD:1495(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786319(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
