Raras
Buscar doenças, sintomas, genes...
Malformação mitral congênita
ORPHA:2447DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Publicações científicas
551 artigos
Último publicado: 2026 Apr 16
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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 pesquisa3
Total histórico551PubMed
Últimos 10 anos200publicações
Pico202590 papers
Linha do tempo
2023Hoje · 2026🧪 1976Primeiro ensaio clínico📈 2025Ano de pico
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

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 21
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

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

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Transcatheter Mitral and Aortic Paravalvular Leak Closure: Innovations, Challenges, and Future Directions.

Circulation. Cardiovascular interventions2026 Mar

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.

#2

Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.

Annals of internal medicine. Clinical cases2026 Jan

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.

#3

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics2026 Jan 15

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.

#4

[Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Feb 02

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。.

#5

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology2026 Feb

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

The role of multimodality imaging in diagnosing an adult-type anomalous origin of the left coronary artery from the pulmonary artery: A case report.

The Journal of international medical research
2026

Congenital Mitral Rings: Insights From a Single-Institution Study and Review of Current Literature.

World journal for pediatric &amp; congenital heart surgery
2026

The pivotal role of echocardiography in structural heart interventions: from planning to success.

Therapeutic advances in cardiovascular disease
2026

Mechanisms of mitral valve development and disease.

Frontiers in cardiovascular medicine
2026

Transcatheter Mitral and Aortic Paravalvular Leak Closure: Innovations, Challenges, and Future Directions.

Circulation. Cardiovascular interventions
2026

An Unusual Case of Acquired Dilated Cardiomyopathy Due to Long-Standing Patent Ductus Arteriosus.

Cureus
2026

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

Taiwanese journal of obstetrics &amp; gynecology
2026

Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant.

Annals of internal medicine. Clinical cases
2026

Clinical phenotypes across age groups and the predictive value of NT-proBNP for ventricular arrhythmias in left ventricular non-compaction: a multicenter cohort study.

Journal of translational medicine
2026

Genetic Burden in Congenital Anomalies of the Mitral and Tricuspid Valves: A Case-Control Study.

Pediatric cardiology
2026

Recanalization of Thrombosed Atrial Flow Regulator in Failing Fontan: A Bridge to Transplant.

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

Surgical Management of Ventricular Tachycardia Originating From Left Ventricular Diverticulum.

JACC. Case reports
2026

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

European journal of pediatrics
2026

[Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Transcatheter Closure of a Residual Mid-Leaflet Mitral Valve Cleft With a Siege Vascular Plug.

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

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Journal francais d'ophtalmologie
2026

Diagnostic Challenge and Surgical Management of Accessory Mitral Valve Tissue.

Journal of cardiothoracic and vascular anesthesia
2026

Modified Nuss procedure versus Ravitch in concurrent repair of pectus deformity and open-heart surgery.

Asian cardiovascular &amp; thoracic annals
2025

Prevalence of cardiac abnormalities in patients with idiopathic scoliosis: a systematic review and meta-analysis.

Spine deformity
2025

Radiofrequency ablation of persistent atrial fibrillation in a patient with dextrocardia and interruption of inferior vena cava in the fluoroless catheterization laboratory: a case report.

Journal of medical case reports
2025

Intraoperative recognition of persistent left superior vena cava during right internal jugular central line placement in mitral valve replacement: a case report.

Journal of medical case reports
2026

Surgical and Anesthesia-Related Concerns forRobot-Assisted Pediatric Cardiac Surgery.

Journal of cardiothoracic and vascular anesthesia
2026

Technologies in minimally invasive treatment of severe mitral regurgitation.

Cardiology journal
2025

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Exploring the future of robotic approaches in neonatal cardiac surgery: opportunities, barriers, and innovation pathways.

Journal of robotic surgery
2026

Transhepatic Access for Mitral Valve Replacement: Transhepatic Transseptal Mitral Valve-in-Valve.

JACC. Case reports
2025

[Mitral Valvuloplasty in a Patient with Left Inferior Vena Cava with Hemiazygos Continuation:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Facial Abnormalities Following Warfarin Exposure In Utero.

Cureus
2025

Transcatheter Valve Replacement in Adults With Congenital Heart Disease-The Mayo Clinic Experience.

Circulation. Cardiovascular interventions
2025

Application of an interactive, stereoscopic three-dimensional viewer to evaluate atrial septal defects in five dogs.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2025

Dual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.

Interdisciplinary cardiovascular and thoracic surgery
2025

Severe Aortic Regurgitation Due to Quadricuspid Aortic Valve.

JACC. Case reports
2025

Untreated incomplete ALCAPA in an adult resulting in mitral regurgitation and reduced left ventricular ejection fraction: case report.

European heart journal. Case reports
2025

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

Journal of family medicine and primary care
2025

Double-orifice mitral valve causing left ventricular outflow tract obstruction: a hitherto unreported entity.

Cardiology in the young
2025

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Cureus
2025

Atypical presentation of ALCAPA in a young boy: a case report.

Cardiology in the young
2025

Cardiac manifestations in children with osteogenesis imperfecta: A single-center observational study.

International journal of cardiology
2025

Multivalvular infective endocarditis due to streptococcus pluranimalium in a young patient with bicuspid aortic valve.

Oxford medical case reports
2025

Hypercholesterolemic valvulopathy and severe atherosclerosis in paediatric patients.

Cardiology in the young
2025

A Rare Cardiac Malformation: Isolated Double-Orifice Mitral Valve.

Echocardiography (Mount Kisco, N.Y.)
2025

Preoperative Echocardiography in Pectus Excavatum: High Rate of Incidental Findings, Low but Clinically Important Yield of Significant Anomalies.

Journal of pediatric surgery
2025

Automated detection of pediatric congenital heart disease from phonocardiograms using deep and handcrafted feature fusion.

Computers in biology and medicine
2025

Conservative Management of Giant Aneurysm of the Left Main to Left Circumflex Arteries.

JACC. Case reports
2025

Fetal Echocardiography in Gestational Diabetes Mellitus.

Cureus
2025

Technical Advances and Outcomes of Fetal Atrial Septal Intervention for Restrictive or Intact Atrial Septum.

Circulation. Cardiovascular interventions
2025

Surgical Repair Of Severe Mitral And Tricuspid Valve Regurgitation In Patient With Left Ventricle Noncompaction - A Case Report.

Portuguese journal of cardiac thoracic and vascular surgery
2025

Incidental Discovery of a Right Atrial Diverticulum in an Adult Patient.

Diagnostics (Basel, Switzerland)
2026

Surgical Strategy for Preserving Native Mitral Valves in Infants With Ventricular Septal Defects and Mitral Regurgitation.

World journal for pediatric &amp; congenital heart surgery
2026

Multimodal Imaging Evaluation of Left Ventricular Sub-Mitral Muscular Diverticulum.

Journal of clinical ultrasound : JCU
2025

Factors Influencing Prolonged Hospital Stay in Surgically Treated Children and Adolescents with Left-to-Right Shunt Congenital Heart Disease: Evidence From a Hospital in Southern China.

Therapeutics and clinical risk management
2025

MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.

BMC pediatrics
2025

Cardiovascular images: parachute mitral valve in a cat.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2025

Re-operative minimally invasive endoscopic mitral valve repair after partial atrioventricular canal repair.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Multiparametric Approach to Arrhythmic Mitral Valve Prolapse: Novel and Recognized Markers of Increased Sudden Cardiac Arrest Risk.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2025

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Cardiology in the young
2025

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect.

Frontiers in pediatrics
2026

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology
2026

The Feasibility and Reproducibility of Measuring Myocardial Performance Index Using Two-Dimensional Phase Contrast Imaging in Patients with Congenital Heart Disease.

Pediatric cardiology
2025

Hypoplastic left heart syndrome with mitral regurgitation: a new marker of poor fetal outcome.

Journal of ultrasonography
2025

80 Years After the First Blalock-Thomas-Taussig Shunt: Cardiac Research in Canines That Saved Lives.

The Journal of surgical research
2025

[Contribution of echocardiographic tele-expertise to the management of congenital heart diseases : Experience from Burkina Faso].

Annales de cardiologie et d'angeiologie
2025

Thirty years of left atrioventricular valve reoperations following atrioventricular septal defect repair: Impact of valvar stenosis.

The Journal of thoracic and cardiovascular surgery
2025

Surgical repair for an anomalous left coronary artery from the pulmonary artery and mitral regurgitation in a symptomatic adult woman.

Asian cardiovascular &amp; thoracic annals
2025

Accessory 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 research
2025

Understanding the hemodynamic changes in fetuses with coarctation of the aorta using a lumped model of fetal circulation.

PLoS computational biology
2025

Right and left ventricular filling in adult patients with repaired tetralogy of fallot: a 4D flow MRI study.

The international journal of cardiovascular imaging
2025

Surgical repair of partial atrioventricular septal defect (pAVSD) in adulthood: A rare case report.

International journal of surgery case reports
2025

Don't Miss the Warning Signs: Syncope Masquerading as a Major Congenital Heart Defect in a 42-Year-Old Patient.

Cureus
2025

Shone᾽s complex in pediatric age group: clinical characteristics, structural components, interventions, and outcomes of a cohort from a single center.

BMC pediatrics
2025

Surgical Intervention in Pediatric Marfan Syndrome: A Multiinstitutional Study.

World journal for pediatric &amp; congenital heart surgery
2025

Multimodal Management of Complex Congenital Heart Disease: A Case of Atrial and Ventricular Septal Defects With a Bifid Apex.

Cureus
2025

Clinical features of non-compaction cardiomyopathy across age groups: a retrospective study of 415 patients.

Open heart
2025

Asymptomatic Isolated Congenitally Corrected Transposition of the Great Arteries in a 25-Year-Old Male: A Case Report.

Journal of investigative medicine high impact case reports
2025

Insidious clinical presentation of uncommon infective endocarditis caused by Cardiobacterium species.

The new microbiologica
2025

Automated, Standardized, Quantitative Analysis of Cardiovascular Borders on Chest X-Rays Using Deep Learning.

JACC. Advances
2025

Acquired bilateral atrio-ventricular valvular stenosis in a complex single-ventricle physiology following superior cavo-pulmonary connection.

BMJ case reports
2025

Left Main Coronary Artery Fistula Presenting as Heart Failure: A Case Report.

The American journal of case reports
2025

Normal fetal echocardiography ratios - a multicenter cross-sectional retrospective study.

Journal of perinatal medicine
2026

The Fate of the Left Atrioventricular Valve After Atrioventricular Septal Defect Repair: Long-Term Outcomes.

Pediatric cardiology
2025

Microspherophakia with an atypical temporal iris coloboma in a young female.

BMJ case reports
2025

Anatomical Left Superior Vena Cava Correction: An Option for Left Ventricular Recruitment?

The Thoracic and cardiovascular surgeon
2025

Accessory Mitral Valve Tissue in Both Obstructive and Nonobstructive Hypertrophic Cardiomyopathy Cases.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2025

The outcomes of reoperation for congenital mitral valve diseases in children.

BMC surgery
2025

Aortic 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 young
2025

Second trimester echocardiography.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2025

Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.

Clinical genetics
2025

Left 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 Asia
2025

Parachute-Like Mitral Valve and Associated Congenital Abnormalities Diagnosed With Multimodality Imaging.

CASE (Philadelphia, Pa.)
2025

Left Ventricle to Left Atrial Communication: An Intriguing Echocardiographic Finding.

Journal of cardiothoracic and vascular anesthesia
2025

Ventricular 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)
2025

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 Surgery
2025

Closure of perimembranous ventricular septal defects using the Amplatzer vascular plug II: experience of a Mexican centre.

Cardiology in the young
2025

Fenestrated membrane of the left atrial appendage orifice; an incidental finding of a rare congenital anomaly.

BMC cardiovascular disorders
2025

Multimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.

Echocardiography (Mount Kisco, N.Y.)
2025

Characterization and Localization of Focal Atrial Tachycardia in Patients With Adult Congenital Heart Disease.

JACC. Clinical electrophysiology
2025

Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.

Journal of clinical medicine
2025

Surgical treatment of anomalous aortic origin of the coronary artery in paediatric patients: a Chinese single-center experience.

BMC surgery
2025

Lightning Can Strike Twice: Management of an Infant With Anomalous Left Coronary Artery from the Pulmonary Artery Complicated by Coccidioidomycosis Infection.

World journal for pediatric &amp; congenital heart surgery
2025

Ebstein's anomaly in children and young adults: clinical features, arrhythmia, surgical management, and factors affecting arrhythmia and mortality.

Cardiology in the young
2025

Echocardiographic 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
2024

[Techniques of Atrial, Ventricular Incision and Closure].

Kyobu geka. The Japanese journal of thoracic surgery
2024

The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes.

International journal of molecular sciences
2025

Case presentation: successful occlusion of congenital left ventricle to coronary sinus fistula.

Cardiology in the young
2025

Management of Tricuspid Atresia With Normally Related Great Arteries and Left-Sided Obstruction.

World journal for pediatric &amp; congenital heart surgery
2025

Anticoagulation with warfarin for paediatric cardiac indications: a retrospective study.

Cardiology in the young
2024

Do 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 young
2024

Primary cardiac myxofibrosarcoma in a patient with Ebstein's anomaly: First reported case.

International journal of surgery case reports
2024

Accidental finding of ALCAPA in a child with severe mitral regurgitation: A case study.

Asian cardiovascular &amp; thoracic annals
2025

A Concise Review of Marfan Syndrome with a Congenital Cardiac Surgery Focus.

Cardiology in review
2024

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Journal of the American Heart Association
2025

Prevalence of cardiomyopathy and cardiac mortality in a colony of non-purebred cats in New Zealand.

New Zealand veterinary journal
2024

Left atrial mitral valve cord: Unveiling complexity through advanced 3D TEE imaging - A case report.

Radiology case reports
2024

Surgical management of congenital mitral stenosis in a patient with Kabuki syndrome.

Cardiology in the young
2024

A rare case of inferior sinus venosus atrial septal defect and concomitant hypoplasia of the posterior mitral valve leaflet.

Echocardiography (Mount Kisco, N.Y.)
2024

Libman-Sacks Endocarditis in a Congenital Valve Defect: A Case Report.

Cureus
2024

Birth in the Operating Room for Immediate Cardiac Surgery: A Rare but Effective Strategy.

World journal for pediatric &amp; congenital heart surgery
2024

A 10-year-old female with Cor triatriatum sinister (CTS): a rare case report and literature review from Syria.

Annals of medicine and surgery (2012)
2024

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.)
2025

Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease.

The Journal of thoracic and cardiovascular surgery
2024

Pathogenesis and Surgical Treatment of Dextro-Transposition of the Great Arteries (D-TGA): Part II.

Journal of clinical medicine
2024

[Risk factors analysis and prediction model construction of major adverse cardiovascular events in pregnant women with valvular heart disease].

Zhonghua fu chan ke za zhi
2024

Use of cardiac gated computed tomography in the diagnosis of a rare congenital cardiovascular anomaly in an adult alpaca.

Veterinary radiology &amp; ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association
2024

The Anterior Mitral Valve Leaflet Prolapse as a Key to Diagnosis of ALCAPA Syndrome.

Journal of the American College of Cardiology
2025

Fetal heart quantification technique improves the prenatal prediction of coarctation of the aorta: A retrospective analysis.

Biomolecules &amp; biomedicine
2024

Presentation 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 reports
2024

Right 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 Surgery
2025

A rare presentation of an accessory mitral valve chordae.

The international journal of cardiovascular imaging
2024

Clinical presentation and surgical outcomes in patients with Shone's complex: a systematic review.

General thoracic and cardiovascular surgery
2025

Incidental Findings of Congenital Unileaflet Mitral Valves in Young Patient Presenting Complete Atrioventricular Block.

Pediatric cardiology
2025

Outcomes following multivalve reoperation in adults with congenital heart disease: A 30-year, single-center study.

The Journal of thoracic and cardiovascular surgery
2024

Parachute tricuspid valve unique case and the first case in Somalia.

Radiology case reports
2024

Hypovolemic Shock And The Need For Invasive Mechanical Ventilation On A Patient With Congenital Heart Disease.

Portuguese journal of cardiac thoracic and vascular surgery
2024

Atrial and Ventricular Arrhythmia in Adults With Shone Complex: A Single-Center Cohort Study.

JACC. Advances
2024

From asymptomatic adult patient to cardiopulmonary resuscitation - treatment of ALCAPA with total arterial myocardial revascularisation and mitral valve repair.

Journal of cardiothoracic surgery
2024

Exploring 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 surgery
2024

Pseudoaneurysm of the mitral-aortic intervalvular fibrosa in children diagnosed by echocardiography: Two case reports.

Journal of clinical ultrasound : JCU
2024

Human Genetics of Hypoplastic Left Heart Syndrome.

Advances in experimental medicine and biology
2024

Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.

Advances in experimental medicine and biology
2024

Clinical Presentation and Therapy of Atrioventricular Septal Defect.

Advances in experimental medicine and biology
2024

Challenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants.

BMJ case reports
2024

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Clinical epigenetics
2025

Prevalence and incidence of chest wall deformities in children below 18 years old: the first systematic review and meta-analysis.

Archives of medical science : AMS
2024

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

International journal of molecular sciences
2024

Infant Barlow's Disease in Association with Atrial Septal Defect.

Brazilian journal of cardiovascular surgery
2024

Concomitant large atrial septal defect closure, biatrial cryoablation and tricuspid valve replacement with mitral homograft.

Asian cardiovascular &amp; thoracic annals
2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Diagnostics (Basel, Switzerland)
2024

Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.

Texas Heart Institute journal
2024

Rare and potentially lethal case of a round lesion in the lung.

BMJ case reports
2024

Wnt Signaling Inhibition Prevents Postnatal Inflammation and Disease Progression in Mouse Congenital Myxomatous Valve Disease.

Arteriosclerosis, thrombosis, and vascular biology
2024

Echogenic intracardiac foci detection and location in the second-trimester ultrasound and association with fetal outcomes: A systematic literature review.

PloS one
2024

Revealing the true nature of a parachute mitral valve during an ultra-trail race.

Journal of science and medicine in sport
2024

Insights into the Inherited Basis of Valvular Heart Disease.

Current cardiology reports
2025

ALCAPA in Children with Complex Congenital Heart Disease: A Multicenter Study.

Pediatric cardiology
2024

Cardiac evaluation in pregnant patients with dyspnea and palpitations.

American journal of obstetrics &amp; gynecology MFM
2024

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)
2024

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

The Turkish journal of pediatrics
2024

Successful 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 Transplantation
2024

Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.

Orphanet journal of rare diseases
2024

Risk stratification by systemic manifestations secondary to hemodynamic disorders of patients with severe tricuspid regurgitation.

BMC cardiovascular disorders
2024

Giant aneurysm of the left atrial appendage: a case report.

European heart journal. Case reports
2024

Hypoplastic 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 Echocardiography
2024

Anesthetic management of pulmonary artery banding in adult patient with single ventricle and uncorrected transposition of the great arteries.

Revista espanola de anestesiologia y reanimacion
2024

Multimodality Imaging of a Mass Arising from a Cor Triatriatum Sinister Membrane.

Radiology. Cardiothoracic imaging
2024

Interventions for Mitral Valve Dysfunction in the Presence of Mitral Annular Calcification: Is There a Preferred Approach?

Journal of cardiothoracic and vascular anesthesia
2024

Differential Clubbing and a Triad of Patent Ductus Arteriosus, Ventricular Septal Defect and Supravalvular Ring Mitral Stenosis: A Case Report.

West African journal of medicine
2024

Mitral 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 Resonance
2024

Maxillary Odontoma Associated With Noonan Syndrome: A Case Report.

Cureus
2024

Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report.

Journal of cardiothoracic surgery
2024

The Ross Procedure in a Case of Baraitser-Winter Syndrome: A Case Report.

Cureus
2024

Mitral valve repair using leaflet expansion and subpartial annuloplasty in children.

JTCVS techniques
2024

NAA10 gene related Ogden syndrome with obstructive hypertrophic cardiomyopathy: A rare case report.

Medicine
2024

Results of the Double Switch Operation in Patients Who Previously Underwent Left Ventricular Retraining.

World journal for pediatric &amp; congenital heart surgery
2024

[Diagnosis and surgical treatment of high-risk anomalous aortic origin of coronary artery].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2024

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.

Journal of investigative medicine high impact case reports
2024

Usefulness of perioperative transoesophageal echocardiography during paediatric cardiac surgery.

Archives of cardiovascular diseases
2024

A short RP tachycardia in congenitally corrected transposition. What is the mechanism?

Pacing and clinical electrophysiology : PACE
2024

Identification of Congenital Valvular Murmurs in Young Patients Using Deep Learning-Based Attention Transformers and Phonocardiograms.

IEEE journal of biomedical and health informatics
2024

Right 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 Echocardiography
2025

Hemodynamics in Adults with Systemic Right Ventricles: Differences Between Congenitally Corrected and Complete Transposition of the Great Arteries.

Pediatric cardiology
2024

Revolutionizing cardiovascular care: the power of histotripsy.

Journal of ultrasound
2024

Understanding the cell fate and behavior of progenitors at the origin of the mouse cardiac mitral valve.

Developmental cell
2024

Diagnostic accuracy of prenatal ultrasound in coarctation of aorta: systematic review and individual participant data meta-analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Aortic valvar atresia with a normal-sized left ventricle in an adolescent.

Cardiology in the young
2024

Echocardiographic values and prevalence of cardiac abnormalities in clinically healthy adult Borzoi dogs.

American journal of veterinary research
2024

Introduction 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 &amp; Interventions
2024

Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.

Heart (British Cardiac Society)
2024

Perioperative and Anesthetic Considerations in Shone's Complex.

Seminars in cardiothoracic and vascular anesthesia
2024

Fetal single ventricle journey to first postnatal procedure: a multicentre UK cohort study.

Archives of disease in childhood. Fetal and neonatal edition
2024

Current use of real-time three-dimensional transthoracic echocardiography in animals.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2023

Role 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 reports
2024

Successful 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 reports
2024

Obstructed Supramitral Inflow: Cor Triatriatum Sinister Presentation in Adulthood.

Journal of cardiothoracic and vascular anesthesia
2024

Double-orifice mitral valve and partial atrioventricular septal defect: A rare combination.

Asian journal of surgery
2023

An adult case of giant congenital left atrial wall aneurysm.

Journal of cardiology cases
2023

[SARS-CoV-2-induced non-bacterial endomyocarditis with the development of acquired heart defects].

Arkhiv patologii
2024

Prognostic 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 surgery
2025

Cor Triatriatum: A Review.

Cardiology in review
2025

Mitral Valve Abnormalities Associated with Single-Ventricle Palliation, Cardiac Death or Transplant in Fetuses with Postnatally Confirmed Coarctation of the Aorta.

Pediatric cardiology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Malformação mitral congênita.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Malformação mitral congênita

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Transcatheter Mitral and Aortic Paravalvular Leak Closure: Innovations, Challenges, and Future Directions.
    Circulation. Cardiovascular interventions· 2026· PMID 41711021mais citado
  2. Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C&gt;T (p.Thr232Met) Germline Variant.
    Annals of internal medicine. Clinical cases· 2026· PMID 41613935mais citado
  3. Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
    European journal of pediatrics· 2026· PMID 41540280mais citado
  4. [Analysis of optimizing indications for fetal pulmonary valvuloplasty based on a multi-parameter scoring system].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41539952mais citado
  5. Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
    Journal of child neurology· 2026· PMID 40717626mais citado
  6. Uni-leaflet mitral valve in adults: a systematic review of case reports and case series.
    Future Cardiol· 2026· PMID 41988791recente
  7. Optimizing long-term outcomes in pediatric mitral valve repair: A focus on posterior leaflet augmentation.
    JTCVS Tech· 2026· PMID 41971862recente
  8. Congenital Mitral Rings: Insights From a Single-Institution Study and Review of Current Literature.
    World J Pediatr Congenit Heart Surg· 2026· PMID 41802840recente
  9. Mechanisms of mitral valve development and disease.
    Front Cardiovasc Med· 2026· PMID 41717582recente
  10. Adult Presentation of Congenital Mitral Stenosis: The Challenges of a True Parachute Mitral Valve.
    Thorac Cardiovasc Surg Rep· 2026· PMID 41584632recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2447(Orphanet)
  2. MONDO:0016582(MONDO)
  3. GARD:1495(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Malformação mitral congênita
Compêndio · Raras BR

Malformação mitral congênita

ORPHA:2447 · MONDO:0016582
MedGen
UMLS
C5680882
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades