A Transposição das Grandes Artérias (TGA) não corrigida desde o nascimento, também conhecida como transposição completa, é uma malformação cardíaca presente desde o nascimento. Ela se caracteriza pela "concordância atrioventricular" — onde as câmaras superiores (átrios) se conectam corretamente às câmaras inferiores (ventrículos) — e pela "discordância ventriculoarterial" (VA) — onde a conexão entre os ventrículos e as grandes artérias está invertida.
Introdução
O que você precisa saber de cara
A Transposição das Grandes Artérias (TGA) não corrigida desde o nascimento, também conhecida como transposição completa, é uma malformação cardíaca presente desde o nascimento. Ela se caracteriza pela "concordância atrioventricular" — onde as câmaras superiores (átrios) se conectam corretamente às câmaras inferiores (ventrículos) — e pela "discordância ventriculoarterial" (VA) — onde a conexão entre os ventrículos e as grandes artérias está invertida.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.
May mediate cell differentiation events during embryonic development
Secreted
Conotruncal heart malformations
A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation
Cell membraneSecreted
Heterotaxy, visceral, 2, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.
Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcriptio
Nucleus
Acts as a transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'
NucleusCytoplasm
Heterotaxy, visceral, 1, X-linked
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.
Variantes genéticas (ClinVar)
778 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
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 — Transposição das grandes artérias não corrigida congenitamente
Centros de Referência SUS
24 centros habilitados pelo SUS para Transposição das grandes artérias não corrigida congenitamente
Centros para Transposição das grandes artérias não corrigida congenitamente
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.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Uncorrected Dextro-Transposition of the Great Arteries With Intact Ventricular Septum and Atrial Septal Defect Diagnosed After Developing Heart Failure.
Fetal left and right ventricular strain parameters using speckle tracking in congenital heart diseases.
Assessment of fetal ventricular function is mostly subjective, and currently, for the objective assessment left ventricular shortening fraction is obtained. However, this by itself is not very reliable. Hence, more tools that can provide an objective assessment are needed to increase the confidence of functional assessment. Speckle tracking imaging can provide one such tool. In this study we sought to establish the normative value of global longitudinal and circumferential strain for our fetal patients and for two major forms of congenital heart diseases, namely atrioventricular canal defects (AVC) and uncorrected dextro-transposition of the great arteries (dTGA) to act as a benchmark. The study was completed via a single center retrospective analysis on 72 fetal echocardiograms (26 normal, 15 dTGA, and 31 AVC). Tomtec Arena™ echocardiography analysis software was used for analysis. In normal fetuses, mean left ventricular (LV) global longitudinal strain (GLS) was - 22.6% (95% CI -24, -21.1) and mean right ventricular (RV) GLS was - 22.1% (95% CI -23.6, -20.6). In AVC patients LV GLS was-26.6% (95% CI -28,-25.3) and mean RV GLS was - 26.5% (95% CI -27.9,-25.2). In dTGA patients LV GLS was - 22.9% (95% CI of -24.8, -21) and RV GLS was - 21.3% (95% CI was - 23.4, -20.8). There was good intra-rater reliability though poor to fair inter-rater reliability. Notwithstanding its current limitations, strain imaging can provide useful information that can increase confidence of cardiac functional assessment in fetal patients. However, to be reliable across the board, further automation and standardization is required.
Anesthetic management of pulmonary artery banding in adult patient with single ventricle and uncorrected transposition of the great arteries.
Pulmonary artery banding (PAB) is a procedure mainly performed during the neonatal period as an initial stage to definitive palliative reconstruction, a scenario in which the criteria for banding adjustment are well defined. However, the indication for BAP in the adult is extraordinarily rare, even more in patients with single ventricle and unrepaired transposition of the great arteries (TGA), and there are no established criteria for banding adjustment. Due to the small number of these procedures, there is limited experience in their anesthetic management and complications. We describe a case of a 29-year-old patient diagnosed with a cyanotic congenital heart disease of double-inlet left ventricle with TGA and unrepaired mitral stenosis, who underwent to a hybrid procedure of PAB and enlargement of the communication between the two atria.
Bacterial Brain Abscesses in a Patient With Transposition of the Great Arteries and Interventricular Communication.
Brain abscesses are localized infections in the brain's parenchyma, characterized by inflammation, pus formation, and the development of a surrounding capsule. These lesions typically occur due to underlying factors such as immunosuppression, ear and sinus infections, and contamination during neurosurgery. While brain abscesses are a life-threatening complication of cyanotic heart defects, they are rarely reported, with only sporadic cases previously documented. This article presents the case of an eight-year-old male patient with an uncorrected transposition of the great arteries, who was evaluated for symptoms including headache, fever, and neurological focalization. Diagnostic imaging revealed three lesions consistent with brain abscesses. Furthermore, the causal agents were identified as Streptococcus intermedius and Fusobacterium spp., representing oral microorganisms. Additionally, the patient exhibited poor oral hygiene and dental caries in multiple teeth. This article discusses and integrates the possible pathophysiological mechanisms that allowed a localized dental infection to spread hematogenously and cause brain abscesses in this patient. Prompt management of the infectious source is crucial to prevent a poor prognosis associated with brain abscesses. Therefore, this case emphasizes the importance of regular dental assessments and thromboprophylaxis for patients with underlying cardiomyopathies that cause right-to-left shunting to prevent potential complications.
Cardiac Fibrosis and Innervation State in Uncorrected and Corrected Transposition of the Great Arteries: A Postmortem Histological Analysis and Systematic Review.
In the transposition of the great arteries (TGA), alterations in hemodynamics and oxygen saturation could result in fibrotic remodeling, but histological studies are scarce. We aimed to investigate fibrosis and innervation state in the full spectrum of TGA and correlate findings to clinical literature. Twenty-two human postmortem TGA hearts, including TGA without surgical correction (n = 8), after Mustard/Senning (n = 6), and arterial switch operation (ASO, n = 8), were studied. In newborn uncorrected TGA specimens (1 day-1.5 months), significantly more interstitial fibrosis (8.6% ± 3.0) was observed compared to control hearts (5.4% ± 0.8, p = 0.016). After the Mustard/Senning procedure, the amount of interstitial fibrosis was significantly higher (19.8% ± 5.1, p = 0.002), remarkably more in the subpulmonary left ventricle (LV) than in the systemic right ventricle (RV). In TGA-ASO, an increased amount of fibrosis was found in one adult specimen. The amount of innervation was diminished from 3 days after ASO (0.034% ± 0.017) compared to uncorrected TGA (0.082% ± 0.026, p = 0.036). In conclusion, in these selected postmortem TGA specimens, diffuse interstitial fibrosis was already present in newborn hearts, suggesting that altered oxygen saturations may already impact myocardial structure in the fetal phase. TGA-Mustard/Senning specimens showed diffuse myocardial fibrosis in the systemic RV and, remarkably, in the LV. Post-ASO, decreased uptake of nerve staining was observed, implicating (partial) myocardial denervation after ASO.
Publicações recentes
Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.
Transcatheter Aortic Valve Replacement With Balloon- Versus Self-Expandable Bioprostheses for the Treatment of Bicuspid Aortic Valve Stenosis.
Positive Vasoreactivity Testing in Pulmonary Arterial Hypertension: Therapeutic Consequences, Treatment Patterns, and Outcomes in the Modern Management Era.
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.
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📚 EuropePMC1 artigos no totalmostrando 10
Uncorrected Dextro-Transposition of the Great Arteries With Intact Ventricular Septum and Atrial Septal Defect Diagnosed After Developing Heart Failure.
CJC pediatric and congenital heart diseaseFetal left and right ventricular strain parameters using speckle tracking in congenital heart diseases.
The international journal of cardiovascular imagingAnesthetic management of pulmonary artery banding in adult patient with single ventricle and uncorrected transposition of the great arteries.
Revista espanola de anestesiologia y reanimacionBacterial Brain Abscesses in a Patient With Transposition of the Great Arteries and Interventricular Communication.
CureusLate Diagnosis of Uncorrected Tricuspid Atresia with Transposition of the Great Arteries in an Adult Patient.
Radiology. Cardiothoracic imagingCardiac Fibrosis and Innervation State in Uncorrected and Corrected Transposition of the Great Arteries: A Postmortem Histological Analysis and Systematic Review.
Journal of cardiovascular development and diseaseCongenitally uncorrected transposition of the great arteries in a pregnant woman 26-year-old: Description and literature review.
Radiology case reportsUncorrected pentalogy of Fallot with successful pregnancy-A case report.
Radiology case reportsMultidisciplinary management of a pregnant woman with uncorrected transposition of the great arteries at term pregnancy: A case report.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsNeurosurgical Emergency in an Adult With Single Ventricle Physiology: A Case Report.
A&A practiceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Transposição das grandes artérias não corrigida congenitamente.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Transposição das grandes artérias não corrigida congenitamente
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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.
- Uncorrected Dextro-Transposition of the Great Arteries With Intact Ventricular Septum and Atrial Septal Defect Diagnosed After Developing Heart Failure.
- Fetal left and right ventricular strain parameters using speckle tracking in congenital heart diseases.
- Anesthetic management of pulmonary artery banding in adult patient with single ventricle and uncorrected transposition of the great arteries.
- Bacterial Brain Abscesses in a Patient With Transposition of the Great Arteries and Interventricular Communication.
- Cardiac Fibrosis and Innervation State in Uncorrected and Corrected Transposition of the Great Arteries: A Postmortem Histological Analysis and Systematic Review.
- Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.
- Transcatheter Aortic Valve Replacement With Balloon- Versus Self-Expandable Bioprostheses for the Treatment of Bicuspid Aortic Valve Stenosis.
- Positive Vasoreactivity Testing in Pulmonary Arterial Hypertension: Therapeutic Consequences, Treatment Patterns, and Outcomes in the Modern Management Era.
- Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.
- Real-world clinicopathological features and outcome of thymic neuroendocrine tumors: a retrospective single-institution analysis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:860(Orphanet)
- MONDO:0019443(MONDO)
- GARD:5476(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3501283(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
