Raras
Buscar doenças, sintomas, genes...
Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita
ORPHA:98724DOENÇA RARA

Uma malformação linfática (ML), ou linfangioma é uma anomalia vascular congênita causada pelo desenvolvimento incorreto de células saudáveis (hamartoma) em vasos linfáticos. Esses tumores benignos são formadas por canais e/ou cistos contendo linfa em seu interior crescem em bebês, geralmente desde o nascimento. Aparecem com mais frequência em cabeça ou pescoço, sendo menos comum em extremidades e ainda menos comuns no tronco. Indolores e sem risco de se tornar um câncer, podem ser drenados, mas frequentemente re-aparecem.

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Introdução

O que você precisa saber de cara

📋

Anomalia congênita dos grandes vasos, como aorta e artérias pulmonares, associada a sintomas como infecções respiratórias recorrentes, hipoplasia pulmonar e shunt da esquerda para a direita. Pode apresentar-se com sequestro pulmonar e alterações na coluna vertebral.

Medicamentos
10 registrados
TOCILIZUMAB, MYCOPHENOLATE MOFETIL, AZATHIOPRINE

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10 medicamentos registrados
Ver detalhes, fases e interações →
TOCILIZUMABMYCOPHENOLATE MOFETILAZATHIOPRINETOFACITINIBUPADACITINIBUSTEKINUMABPREDNISOLONEINFLIXIMABABATACEPTPREDNISONE
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +10
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

❤️
Coração
44 sintomas
🫁
Pulmão
19 sintomas
📏
Crescimento
4 sintomas
🩸
Sangue
4 sintomas
💪
Músculos
2 sintomas
🧠
Neurológico
2 sintomas

+ 62 sintomas em outras categorias

Características mais comuns

Sequestro pulmonar
Anormalidade da coluna vertebral
Mialgia
Suores noturnos
Cefaleia
Infecções respiratórias recorrentes
145sintomas
Sem dados (145)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 145 características clínicas mais associadas, ordenadas por frequência.

Sequestro pulmonarPulmonary sequestration
Anormalidade da coluna vertebralAbnormality of the vertebral column
MialgiaMyalgia
Suores noturnosNight sweats
CefaleiaHeadache

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2025156 papers
Linha do tempo
2025Hoje · 2026🧪 1997Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

3 genes identificados com associação a esta condição.

MLXMax-like protein XCandidate gene tested inTolerante
FUNÇÃO

Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (1)
ChREBP activates metabolic gene expression
EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
71.6 TPM
Fibroblastos
70.5 TPM
Intestino delgado
66.4 TPM
Tecido adiposo
65.8 TPM
Tireoide
63.7 TPM
OUTRAS DOENÇAS (1)
Takayasu arteritis
HGNC:11645UniProt:Q9UH92
IL12BInterleukin-12 subunit betaCandidate gene tested inTolerante
FUNÇÃO

Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates t

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (4)
Interleukin-10 signalingInterleukin-4 and Interleukin-13 signalingInterleukin-12 signalingInterleukin-23 signaling
MECANISMO DE DOENÇA

Immunodeficiency 29

A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis.

EXPRESSÃO TECIDUAL(Baixa expressão)
Linfócitos
1.0 TPM
Pituitária
0.8 TPM
Testículo
0.1 TPM
Rim - Córtex
0.1 TPM
Glândula salivar
0.1 TPM
OUTRAS DOENÇAS (2)
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyTakayasu arteritis
HGNC:5970UniProt:P29460
HLA-BHLA class I histocompatibility antigen, B alpha chainCandidate gene tested inTolerante
FUNÇÃO

Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:23209413, PubMed:25808313, PubMed:29531227, PubMed:9620674). May also present self-peptides derived from the

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
E3 ubiquitin ligases ubiquitinate target proteins
MECANISMO DE DOENÇA

Stevens-Johnson syndrome

A rare blistering mucocutaneous disease that share clinical and histopathologic features with toxic epidermal necrolysis. Both disorders are characterized by high fever, malaise, and a rapidly developing blistering exanthema of macules and target-like lesions accompanied by mucosal involvement. Stevens-Johnson syndrome is a milder disease characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis and sometimes blindness. It can be caused by a severe adverse reaction to particular types of medication, although Mycoplasma infections may induce some cases.

EXPRESSÃO TECIDUAL(Ubíquo)
Sangue
8283.6 TPM
Baço
6025.1 TPM
Linfócitos
5071.2 TPM
Pulmão
4631.0 TPM
Intestino delgado
2873.0 TPM
OUTRAS DOENÇAS (7)
obsolete pulmonary arterial hypertension associated with connective tissue diseaseTakayasu arteritistemporal arteritisStevens-Johnson syndrome
HGNC:4932UniProt:P01889

Medicamentos e terapias

TOCILIZUMABPhase 3

Mecanismo: Interleukin-6 receptor alpha subunit inhibitor

MYCOPHENOLATE MOFETILPhase 3

Mecanismo: Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor

AZATHIOPRINEPhase 3

Mecanismo: Amidophosphoribosyltransferase inhibitor

TOFACITINIBPhase 3

Mecanismo: Janus Kinase (JAK) inhibitor

UPADACITINIBPhase 3

Mecanismo: Tyrosine-protein kinase JAK2 inhibitor

USTEKINUMABPhase 3

Mecanismo: Interleukin-23 inhibitor

PREDNISOLONEPhase 3

Mecanismo: Glucocorticoid receptor agonist

INFLIXIMABPhase 2

Mecanismo: TNF-alpha inhibitor

ABATACEPTPhase 2

Mecanismo: T-lymphocyte activation antigen CD86 inhibitor

PREDNISONEPhase 2

Mecanismo: Glucocorticoid receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

62 variantes patogênicas registradas no ClinVar.

🧬 MLX: NM_198204.2(MLX):c.476+118G>T ()
🧬 MLX: NM_198204.2(MLX):c.476+24G>T ()
🧬 MLX: NM_198204.2(MLX):c.170-17C>G ()
🧬 MLX: NM_198204.2(MLX):c.42+167G>T ()
🧬 MLX: GRCh37/hg19 17q12-22(chr17:41196270-41277589) ()
Ver todas no ClinVar

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.
Aprovado1
3Fase 37
2Fase 23
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 10 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 — Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita

Centros para Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), 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
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Anaesthetic management of a paediatric patient with situs inversus totalis and congenitally corrected transposition of the great arteries undergoing adenotonsillectomy.

BMJ case reports2026 Feb 10

Situs inversus totalis (SIT) with congenitally corrected transposition of the great arteries (ccTGA) represents a rare and complex congenital combination that significantly complicates anaesthetic management. We report the anaesthetic management of an early childhood (2-5 years), 13 kg child diagnosed with SIT and ccTGA undergoing elective adenotonsillectomy. Individualised perioperative strategies were implemented, including modified ECG monitoring, arrhythmia preparedness and explicit mg/kg drug dosing. Intraoperative management was uneventful, and the patient had a stable recovery. This case highlights anaesthetic considerations and monitoring adaptations in non-cardiac paediatric surgery involving mirror-image congenital cardiac anatomy.

#2

Arrhythmias in congenitally corrected transposition of the great arteries: an international study.

European heart journal2026 Feb 18

There is a paucity of data on arrhythmia burden in patients with congenitally corrected transposition of the great arteries (ccTGAs). The present study sought to quantify the incidence of atrial arrhythmia (AA), ventricular arrhythmia (VA), and complete atrioventricular block (CAVB) in patients with ccTGA and identify associated factors. An international, multi-centre, retrospective cohort study was conducted in 29 tertiary hospitals (six countries) between 1990 and 2018. Primary analyses consisted of determining the incidence of a combined outcome consisting of AA, VA, or CAVB, along with its individual components. Factors associated with the different types of arrhythmias were assessed by uni-variable and multi-variable Cox regression analyses. A total of 1131 patients with ccTGA were followed for 9.0 (interquartile range 4.0-17.2) years. Cumulative rates of the primary endpoint at 10, 15, and 20 years were 44.5%, 51.0%, and 58.8%, respectively. AA, VA, and CAVB occurred in 2.1, 1.4, and 2.0 cases per 100 person-years, respectively. In multi-variable analyses, surgery/intervention conferred a greater than three-fold higher risk of AA [hazard ratio (HR) 3.01, 95% confidence interval (CI) 1.90-4.78, P < .001]. Furthermore, surgery/intervention was significantly associated with a greater risk of VA (HR 1.73, 95% CI 0.98-3.05, P = .003) and CAVB (HR 3.65, 95% CI 2.20-6.05, P < .001). The left bundle branch block was associated with a higher risk of VA (HR 4.03, 95% CI 1.59-10.23, P = .003) and the right bundle branch block with a higher risk of CAVB (HR 3.71, 95% CI 1.81-7.63, P < .001). The arrhythmia burden in patients with ccTGA is substantial, with a high incidence of AA, VA, and CAVB.

#3

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

Journal of the Saudi Heart Association2026

Double dorsal aorta is a rare congenital embryological vascular anomaly resulting from incomplete regression and fusion of the dorsal aortae during embryogenesis. This anomaly could be associated with various other congenital heart defects (CHDs), including transposition of the great arteries, ventricular septal defect (VSD), persistent truncus arteriosus, tetralogy of Fallot (TOF), and Coarctation of the aorta (COA). This is a 9 year old girl with complex congenital heart disease and a double dorsal aorta who underwent a single ventricle palliation and this anomaly was detected during pre Fontan evaluation. She presented at age of 2 weeks with cyanosis, initial diagnosis was situs inversus, Dextrocarida, DORV with malposed great arteries, subpulmonary and valvular pulmonary stenosis, Patent ductal arteriosus and left superior vena cava. Patient was discussed with cardiothoracic team and Underwent left bidirectional Glenn at 10 months of age (2017) During pre-Fontan catheterization (June 2021) → incidental discovery of double descending (double dorsal) aorta, subsequently confirmed by CTA Fontan Completion: Deferred due to multiple severe comorbidities. Double dorsal aorta is an extremely rare embryologic vascular anomaly due to failure of fusion of the paired dorsal aortae. Although was asymptomatic, its identification is important in complex congenital heart disease because it may affect surgical planning and catheter based interventions. In this patient, the anomaly was detected incidentally during pre Fontan evaluation emphasizing the value of detailed preoperative imaging.

#4

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

Journal of clinical medicine2026 Feb 24

Background: Patients with single-ventricle physiology represent a high-risk group for heart transplantation. Due to complex anatomical and physiological challenges, including multiple prior sternotomies, pulmonary artery abnormalities, and systemic consequences of altered circulation, they represent both a surgical and a clinical challenge. We aimed to analyze perioperative challenges, as well as early and long-term complications, in this specific group of patients. Methods: We performed a retrospective data analysis of a high-volume heart transplant center, focusing on patients with single-ventricle physiology who were scheduled for heart transplantation due to end-stage heart failure. We retrospectively analyzed the period from the beginning of the transplant program in November 1985 to the end of November 2024. Results: Among 1553 transplanted patients (adults and children), 29 were transplanted due to congenital heart disease (congenital valvular disease not included). In this group, nine patients were transplanted due to end-stage heart failure in the course of single-ventricle physiology. Age at transplantation ranged from 7 to 31 years (median, 17 years), and body weight ranged from 15 to 69 kg (median, 47.9 kg). All nine patients referred for heart transplantation presented with single-ventricle physiology. Their underlying congenital heart defects were heterogeneous and included hypoplastic left heart syndrome (HLHS), double-outlet left ventricle (DOLV), transposition of the great arteries (TGA) with associated ventricular septal defects (VSDs), atrial septal defects (ASDs), valvular abnormalities such as tricuspid and or pulmonary valve atresia or stenosis, systemic or atrioventricular valve regurgitation, and vascular abnormalities, including right-sided aortic arch, aortic coarctation, and pulmonary artery hypoplasia, stenosis, or occlusion, as well as associated pulmonary vascular abnormalities such as left pulmonary artery stenosis and MAPCAs. All patients had previously undergone staged palliative procedures, including Norwood, Hemi-Fontan, Fontan, bidirectional Glenn, modified Blalock-Taussig shunts, Bjork-Fontan, or pulmonary artery banding, often with repeated interventions such as balloon angioplasty, stent placement, or MAPCA closure. Extracardiac comorbidities were common and included coagulopathies, protein-losing enteropathy, hepatic dysfunction, and chronic venous insufficiency. Preoperative functional status was markedly impaired in all patients (NYHA III-IV, INTERMACS 3-4), with severely reduced exercise capacity and thrombotic events in several individuals. Perioperative transplant surgical strategies included femoral cannulation in four cases and standard aortic and caval cannulation in five cases. Pulmonary artery reconstruction was required in all patients. Extended donor pulmonary arteries were applied in eight cases, while a bifurcated Dacron prosthesis was utilized in one patient. Perioperative mortality was 33%, with three deaths attributed to bleeding and hemodynamic instability, while overall mortality was 44% including one late death unrelated to transplantation. Protein-losing enteropathy, although persistent in the immediate postoperative period, resolved in all surviving patients, underscoring the transformative impact of transplantation. Conclusions: These findings emphasize the importance of individualized surgical planning, extended donor pulmonary artery harvesting, and careful preoperative coordination. Heart transplantation remains a viable and life-extending option for selected single-ventricle patients, despite the significant technical and clinical challenges involved.

#5

Prenatal Diagnosis of Isolated Congenitally Corrected Transposition of the Great Arteries.

Cureus2026 Feb

Congenitally corrected transposition of the great arteries (ccTGA) is an uncommon congenital heart defect characterized by atrioventricular and ventriculo-arterial discordance resulting from abnormal leftward looping of the primitive cardiac tube. Although this double discordance produces a physiologically corrected circulation, the morphologic right ventricle functions as the systemic ventricle, and the tricuspid valve serves as the systemic atrioventricular valve, predisposing affected individuals to late complications. Prenatal diagnosis of ccTGA is often challenging, particularly in isolated cases without associated cardiac anomalies, as the four-chamber view may appear deceptively normal on routine obstetric ultrasound. In current prenatal cohorts reported in the literature, isolated ccTGA without additional structural cardiac anomalies is uncommon. In several series of prenatally diagnosed ccTGA, only about 13-15% of cases were isolated when postnatal findings were also considered. We report a case of isolated ccTGA diagnosed at 24 weeks and 4 days of gestation through detailed fetal echocardiographic evaluation and confirmed postnatally. Compared with the routine anomaly scan, which assesses only basic cardiac views (situs, four-chamber, and outflow tracts), a dedicated fetal echocardiography was performed. A sequential segmental approach was used, including confirmation of situs, detailed four-chamber morphology, atrioventricular and ventriculo-arterial connections, outflow tract and three-vessel views, aortic and ductal arches, and cranio-caudal sweeps from abdomen to mediastinum were used to track chamber continuity, great artery relationships, and color Doppler evaluation of flow across the valves and great vessels. Systematic assessment demonstrated ventricular inversion, with the systemic ventricle showing coarse trabeculations and a moderator band, along with apical displacement of the systemic atrioventricular valve consistent with tricuspid morphology. Atrioventricular discordance was clearly identified, and the great arteries were observed to run in a parallel orientation with abnormal ventriculo-arterial connections, key echocardiographic features that enabled accurate prenatal diagnosis. Importantly, no additional intracardiac anomalies were detected. The neonate remained clinically stable after birth, with a normal sinus rhythm and no evidence of immediate hemodynamic compromise. This case highlights the importance of a structured fetal cardiac evaluation extending beyond the standard four-chamber view. Careful attention to ventricular morphology, atrioventricular valve offsetting, and the spatial relationship of the great arteries is essential for identifying isolated ccTGA. Early prenatal diagnosis facilitates appropriate parental counseling, optimized perinatal planning, and structured long-term follow-up. Children with congenitally corrected transposition of the great arteries require lifelong surveillance because of the risk of progressive systemic right ventricular dysfunction, tricuspid valve regurgitation, arrhythmias, and conduction abnormalities, and early recognition allows timely intervention and improved functional outcomes into adolescence and adulthood.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

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

Journal of the Saudi Heart Association
2026

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

Journal of clinical medicine
2026

Prenatal Diagnosis of Isolated Congenitally Corrected Transposition of the Great Arteries.

Cureus
2026

Case Report: Parachute tricuspid valve in association with cyanotic congenital heart disease and juxtaposed atrial appendages in a 1-year-old boy-a rare anatomical association.

Frontiers in cardiovascular medicine
2026

Broadening horizons: new links between cilia and heart development and disease.

Frontiers in cardiovascular medicine
2026

Development of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.

Arquivos brasileiros de cardiologia
2026

One-stage repair of Taussig-Bing anomaly in a neonate with aortic arch hypoplasia and single coronary artery.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Soft tissue abnormalities in the congenital limb malformation radial dysplasia (RD): Their clinical impact and treatment significance.

Journal of anatomy
2026

Anaesthetic management of a paediatric patient with situs inversus totalis and congenitally corrected transposition of the great arteries undergoing adenotonsillectomy.

BMJ case reports
2026

Combined Lead Extraction and Leadless VDD Pacemaker Implantation in d-TGA Patient After Senning Procedure.

JACC. Case reports
2025

A Rare Case of D-transposition of the Great Arteries (TGA) With Ventricular Septal Defect (VSD), Dysplastic Pulmonary Valve (Absent Pulmonary Valve Physiology), and Aortic Valve Stenosis in a Term Neonate.

Cureus
2026

The hemodynamic impact of congenital heart diseases during fetal-to-neonatal transition: an in-silico investigation.

Pediatric research
2026

Antiarrhythmic Medications in Patients with Adult Congenital Heart Disease.

Cardiac electrophysiology clinics
2026

Surgical Outcomes of Anatomic Repair in Congenitally Corrected Transposition of the Great Arteries: A 28-Year, Multicentre Dutch Experience.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Systemic atrioventricular valve replacement due to a supravalvular stenosing ring and ebsteinoid tricuspid valve in a patient with congenitally corrected transposition of the great arteries: a case report.

Archivos peruanos de cardiologia y cirugia cardiovascular
2026

Ivemark syndrome in an adult with complete atrioventricular septal defect and a single ventricle with L-transposition of the great arteries: a case report.

Journal of medical case reports
2025

The distinct contribution of sternotomy to the systemic inflammatory response during children's heart surgery.

Frontiers in immunology
2026

Association of Laboratory Parameters with Acute Kidney Injury in Pediatric Patients Undergoing Surgery for Transposition of the Great Arteries.

La Clinica terapeutica
2026

Long-Term Outcome After the En Bloc Rotation of the Outflow Tracts Including Patients With Congenitally Corrected Transposition of the Great Arteries.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2026

Importance of clinical practice guidelines for specialized delivery room resuscitation of newborns with prenatally diagnosed critical congenital heart disease.

Journal of perinatology : official journal of the California Perinatal Association
2026

Preoperative Extracorporeal Membrane Oxygenation in Children With Dextro-Transposition of the Great Arteries: Extracorporeal Life Support Organization Registry Study, 2000-2022.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies
2025

Assessment of Double Outlet Left Ventricle in Pediatrics Using Transthoracic Echocardiography and Computed Tomographic Angiography.

Pediatric discovery
2025

Lacunar stroke with incidental congenital absence of the internal carotid artery: importance of recognising a rare anatomical variant.

BMJ case reports
2025

Anesthetic Management of a 32-Year-Old Woman Undergoing Laparoscopic Gynecological Surgery With Prior Fontan Repair for a Complex Congenital Heart Defect.

The American journal of case reports
2025

Standardized mortality ratio in adults with congenital heart disease.

European heart journal open
2025

Arrhythmia mechanisms and results of transcatheter ablation therapy in patients diagnosed with CHD: the most difficult and dark side of paediatric electrophysiology.

Cardiology in the young
2026

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease.

International journal of cardiology
2025

Virtual Reality to Enhance Understanding of Congenital Heart Disease.

Journal of cardiovascular development and disease
2026

Surgery for coronary anomaly: Intramural single trunk between the great arteries.

Asian cardiovascular &amp; thoracic annals
2025

Monochorionic diamniotic twins with concordant dextro-transposition of the great arteries: strengthening the case for genetic underpinnings.

Cardiology in the young
2025

Off-label use of implantable devices and stents in congenital heart disease patient's interventional procedures. a single center experience.

BMC cardiovascular disorders
2025

Transcatheter pulmonary valve replacement with the venusP-valve system in a patient with double outlet right ventricle and transposition of the great arteries a first-in-human case report.

Frontiers in cardiovascular medicine
2025

The Role of Stress Echocardiography in Patients With Anomalous Aortic Origin of Coronary Arteries: Two Tertiary Cardiac Centers' Experience.

Echocardiography (Mount Kisco, N.Y.)
2026

Cardiac magnetic resonance imaging in atrioventricular discordance and congenitally corrected transposition (CCTGA).

European journal of radiology
2025

[Left Coronary Artery Stenosis Long-term After Original Jatene Procedure].

Kyobu geka. The Japanese journal of thoracic surgery
2026

Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-Type Total Anomalous Pulmonary Venous Connection.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2026

Tricuspid valve surgery in transposition of the great arteries with a systemic right ventricle.

International journal of cardiology
2025

Incidental diagnosis of a complex cyanotic congenital heart defect in a 32-year-old with orbital abscess.

Cardiology in the young
2026

Percutaneous Management of Right Ventricular Outflow Tract Obstruction in an Adult Patient After Atrial Switch: A Case for Targeted Infundibular Ablation.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Comparison of autologous aortic tissue and pericardial patch for neo-pulmonary artery reconstruction during arterial switch operation: a single-surgeon experience.

BMC cardiovascular disorders
2025

Congenitally corrected transposition of the great arteries: outcomes after single ventricle palliation.

Pediatric research
2026

Outcomes of cardiac pacing in adults with congenitally corrected transposition of great arteries.

International journal of cardiology
2026

High risk and low incidence diseases: Cyanotic critical congenital heart disease.

The American journal of emergency medicine
2025

Arrhythmias in Congenital Heart Disease: Atrial Switch Operations.

Cardiac electrophysiology clinics
2026

Neoaortic outcomes after the arterial switch operation: A systematic review and meta-analysis.

Archives of cardiovascular diseases
2025

Aortic atresia, interrupted hypoplastic right aortic arch, single ventricle and bilateral arterial duct - a unique anatomy with surgical palliation.

Journal of cardiothoracic surgery
2025

Atrial Antitachycardia Pacing in Congenital Heart Disease: One Algorithm Does Not Fit All.

Pacing and clinical electrophysiology : PACE
2025

[Preliminary exploration of the mode and timing of delivery for complex fetal congenital heart disease].

Zhonghua fu chan ke za zhi
2025

Complex Reimplantation of Aneurysmal Left Main Coronary Artery During Reoperative Aortic Root Replacement.

Cureus
2025

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Diagnostics (Basel, Switzerland)
2025

An Effective Hybrid Treatment for Persistent Sciatic Artery Aneurysm.

EJVES vascular forum
2025

The "Heart-and-Brain Interaction" in Newborns with Complex Congenital Heart Disease.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Life-threatening hemorrhage during removal of a Nuss bar embedded in the sternum: a case report.

Journal of cardiothoracic surgery
2025

Coronary-to-pulmonary artery fistula in a patient with atypical chest pain: case presentation and literature review.

Surgical and radiologic anatomy : SRA
2025

Fetal D-Transposition of the Great Arteries: Is There a Simple Option to Identify Fetuses Who Require Neonatal Balloon Septostomy?

Echocardiography (Mount Kisco, N.Y.)
2026

Ventricular Assist Devices in Adults With Transposition of the Great Arteries and Systemic Right Ventricle: Systematic Literature Review.

World journal for pediatric &amp; congenital heart surgery
2025

Profound systemic hypoperfusion in a patient with ventricular inversion temporised with transcatheter ductal closure.

Cardiology in the young
2025

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.

The American journal of case reports
2025

Clinical Predictors of Recurrent Cavotricuspid Isthmus Flutter After Catheter Ablation in Patients With Dextro-Transposition of the Great Arteries.

Journal of cardiovascular electrophysiology
2025

Long-Term Surgical Outcomes in Double Outlet Right Ventricle Based on Detailed Anatomical Sub-Typology.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Left Ventricle Using Multidetector CT Angiography.

Pediatric cardiology
2025

Effect of Fetal Brain Oxygenation and Volume on Brain Maturation and Neurodevelopmental Outcomes in Congenital Heart Disease.

Radiology
2025

Optimising pre-operative assessment in double-outlet right ventricle: the complementary role of echocardiography and CT angiography.

Cardiology in the young
2025

The unconventional surgical management of an infant with rare Scimitar syndrome variant.

Cardiology in the young
2025

Risk of Future Hemorrhage From Unruptured Brain Arteriovenous Malformations: The Multicenter Arteriovenous Malformation Research Study (MARS).

JAMA neurology
2025

Navigating the clinical complexity of acute heart failure in an untreated adult with dextrotransposition of the great arteries (D-TGA) and multiple cardiac anomalies: a case report and review of literature.

Journal of medical case reports
2025

Development of Complexity Assessment and Monitoring to Ensure Optimal Outcomes Acuity Curves.

Dimensions of critical care nursing : DCCN
2025

Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries.

Prenatal diagnosis
2025

Porto-Pulmonary Hypertension in Children: Insights From a National Registry.

Pulmonary circulation
2026

An Expanding Perspective: Extreme Aortic Dilation in a Patient With Single Ventricle Palliation.

World journal for pediatric &amp; congenital heart surgery
2025

Longitudinal Magnetic Resonance Imaging Study of Hemodynamic Changes in the Third Trimester in Fetuses With Major Congenital Heart Defects and Healthy Fetuses.

Prenatal diagnosis
2025

Myocardial Protection Efficacy of Custodiol, Del Nido, and Cold Intermittent Blood Cardioplegia in Arterial Switch Operation.

Interdisciplinary cardiovascular and thoracic surgery
2025

Neonatal transposition of the great arteries associated with abnormal right pulmonary artery.

Cardiology in the young
2025

Quality of Life in Adults With Transposition of the Great Arteries With a Systemic Right or Left Ventricle.

The Canadian journal of cardiology
2025

Amplitude-Integrated/Continuous Electroencephalography for Early Detection of Low Cardiac Output After Chest Closure in an Infant.

JACC. Case reports
2026

The arterial switch operation into the third and fourth decades of life.

The Journal of thoracic and cardiovascular surgery
2026

Comparison for Long-Term Results of the Modified Réparation à l´étage Ventriculaire and Rastelli Repair.

World journal for pediatric &amp; congenital heart surgery
2026

Timing of the Arterial Switch Operation in Premature Neonates < 2 kg With d-Loop Transposition of the Great Arteries and Intact Ventricular Septum-A Case Series.

World journal for pediatric &amp; congenital heart surgery
2025

[Dissociation of posttraumatic arteriovenous fistula on the leg].

Khirurgiia
2025

Outcomes of the Fontan operation in patients with Ebstein anomaly: An Australia and New Zealand Fontan registry study.

JTCVS open
2025

Conotruncal Anomalies of the Fetus.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2025

Aortocoronary flap technique in arterial switch for single coronary: Two case reports.

Science progress
2025

Plasma non-targeted metabolomics unravels the metabolic features of normal trans-right heart.

Metabolomics : Official journal of the Metabolomic Society
2026

Circ_0005372 targets the miR-153-3p/ITGB3 axis to stimulate the PI3K/AKT signaling pathway to facilitate the occurrence and development of congenital heart disease and pulmonary arterial hypertension in children.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2025

Prevalence and Predictors of Neurocognitive Dysfunction in Adults With Congenital Heart Disease: Results From MINDS-ACHD.

Journal of the American College of Cardiology
2025

Advanced three-dimensional surgical planning of complex ventricular anatomy in transposition of the great arteries.

Cardiology in the young
2025

Feasibility of laryngeal mask airway ventilation in selected pediatric pulmonary artery sling surgeries: a retrospective review.

Journal of cardiothoracic surgery
2025

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Complete transposition of the great arteries with a patent ductus arteriosus, atrial septal defect, and juxta-arterial ventricular septal defect in a cat.

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

First-Trimester Detection of Conotruncal Anomalies Using Transabdominal SlowflowHD: A Case Series and Proof-of-Concept Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2025

Transposition of the great arteries: anatomy, physiology and surgical outcomes today.

Current opinion in pediatrics
2025

Health-related quality of life outcomes for congenitally corrected transposition of the great arteries patients across the therapeutic spectrum.

Cardiology in the young
2025

Cardiac Resynchronization Therapy in Single-Ventricle Physiology: A Case Report of cc-TGA Managed With Fontan Strategy.

Pacing and clinical electrophysiology : PACE
2025

Shortness of breath on a mustard patient: multidisciplinary approach improves outcomes.

Journal of cardiothoracic surgery
2025

Analysis of Echocardiography and Risk Factors Related to Prognosis in Adult Patients with Isolated Congenitally Corrected Transposition of the Great Arteries.

Journal of clinical medicine
2025

Iatrogenic anastomosis of the internal mammary artery with the great cardiac vein: The first documented case report in Palestine with a literature review.

Medicine
2025

Health-related quality of life in patients with a systemic right ventricle: the QUALISYSTEMIC study.

European journal of cardiovascular nursing
2025

Genetic aspects of congenital heart disease in heterotaxy syndrome.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
2025

Prenatal detection rate of congenital anomalies over a period of 30 years: A population-based registry study.

European journal of obstetrics, gynecology, and reproductive biology
2025

mRNA Expression to Assess Hypoxia and Angiogenesis in Decidual Tissue of Term Fetuses With a Congenital Heart Disease.

Prenatal diagnosis
2026

Neonatal Outcomes in Transposition of the Great Arteries by Mode and Timing of Delivery.

American journal of perinatology
2026

The Predictive Role of Prenatal Echocardiography in the Diagnosis of Postnatal Pulmonary Stenosis.

Pediatric cardiology
2025

Epigenomic signatures of accelerated epigenetic aging are associated with congenital heart disease in newborns.

BMC medical genomics
2026

Prenatal ultrasound diagnosis and prognosis of ductal-dependent congenital heart disease: A single-center study in China.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2026

Arrhythmias in congenitally corrected transposition of the great arteries: an international study.

European heart journal
2025

3D Electroanatomical Mapping for Complex Atrial Arrhythmias in Adult Congenital Heart Disease-A Single Center Experience.

Pacing and clinical electrophysiology : PACE
2025

Fetal Cerebrovascular Response to Maternal Hyperoxia Testing and Association With Brain Growth and Postnatal Brain Injury in Congenital Heart Disease.

Journal of the American Heart Association
2026

Long-Term Outcome Following Prenatal Diagnosis of Transposition of the Great Arteries.

Pediatric cardiology
2025

Complex stenting of an obstructed outflow graft of a heartmate 3 in an adult after a mustard procedure.

Cardiology in the young
2025

Double-Outlet Right Ventricle in an Adult With a Univentricular Heart and Total Situs Inversus.

JACC. Case reports
2025

Surgical management of hiatal hernia in a 3-year-old child with asplenia syndrome, congenital heart disease, thoracic scoliosis, and intestinal malrotation: A case report.

International journal of surgery case reports
2025

Conus Branch Fistula to Main Pulmonary Artery: A Rare Coronary Anomaly that May Cause Chest Pain in a Pediatric Patient.

European journal of case reports in internal medicine
2026

Contemporary outcomes of childhood aortic coarctation interventions: a national registry analysis of mortality, reinterventions and hospital resource use.

Heart (British Cardiac Society)
2025

Assessing the Impact of Social Factors on Survival Among Infants Born with Transposition of the Great Arteries, Tetralogy of Fallot, and Diaphragmatic Hernia in Texas, 2011-2019.

Maternal and child health journal
2025

Neo-aortic valve regurgitation and root dilation after arterial switch operation in patients with native left ventricular outflow tract obstruction.

The Journal of thoracic and cardiovascular surgery
2025

Congenitally Corrected Transposition of Great Arteries With Double Aortic Arch and Membranous Septal Aneurysm-A Rare Association.

Echocardiography (Mount Kisco, N.Y.)
2025

Outcome of the Arterial Switch Operation After One Month of Age in Infants With Transposition of the Great Arteries and Intact Ventricular Septum.

World journal for pediatric &amp; congenital heart surgery
2025

Congenital Conundrum: Unraveling the Puzzle of Double Outlet Right Ventricle for the Neonatologist.

NeoReviews
2025

Evaluation of Intraoperative Bivalirudin Anticoagulation in Neonates and Infants Undergoing Arterial Switch Operation on Integrated ECMO-CPB Circuit: A Prospective Study.

Journal of cardiothoracic and vascular anesthesia
2025

Left bundle branch pacing in a 4-year-old patient with complete heart block after correction of transposition of the great arteries via a dual chamber pacing system: a case report.

Frontiers in cardiovascular medicine
2025

Assessing the Utility of Routine Surveillance Echocardiograms After Arterial Switch Operation in Adults With Transposition of the Great Arteries.

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

Massive Aneurysmal Coronary Artery Fistulae Demonstrating the Continued Utility of Surgical Intervention.

JACC. Case reports
2025

Association of pulmonary artery bifurcation angle shift with contralateral stenosis after post-arterial switch in the pediatric transposition of great artery patients.

PloS one
2025

Duplication of the umbilical vein along with an extrahepatic, intrathoracic right umbilical vein in the setting of Taussig-Bing anomaly with atrioventricular septal defect.

Indian journal of thoracic and cardiovascular surgery
2026

Artificial Intelligence-Enabled ECG to Detect Congenitally Corrected Transposition of the Great Arteries.

Pediatric cardiology
2025

Peripheral arterial bypass in pediatric patients: Literature review and a case of complex trauma in a 5-year-old boy.

Journal of vascular surgery cases and innovative techniques
2025

Reversed septal motion in congenital corrected transposition of the great arteries: A potential mechanism for tricuspid regurgitation.

The Journal of thoracic and cardiovascular surgery
2025

Indirect surgical revascularization for management of vascular steal phenomenon in high-grade untreatable brain arteriovenous malformations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Suboptimal Interrater Reliability Limits Predictive Value of Fetal Echocardiography for Neonatal Balloon Atrial Septostomy in Fetuses With Dextro-Transposition of the Great Arteries.

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

Acute thrombosis of an atrial flow regulator in a failing Fontan circulation: recanalization and management.

BMC cardiovascular disorders
2025

Successful living donor kidney transplantation in a 14-year-old boy with Fontan circulation.

Pediatric nephrology (Berlin, Germany)
2025

Shifting strategies to address systemic outflow tract obstruction in single ventricle anatomy with transposed great arteries.

The Journal of thoracic and cardiovascular surgery
2025

Prevalence of Pulmonary Artery Interventions Following the Arterial Switch Operation.

World journal for pediatric &amp; congenital heart surgery
2025

Transposition of the Great Arteries With Intact Ventricular Septum and Left Ventricular Outflow Tract Obstruction: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD).

World journal for pediatric &amp; congenital heart surgery
2025

Design and rationale of "Antecedents and correlates of well-being in young adults with congenital heart disease in the Boston Circulatory Arrest Study (BCAS-adult)".

American heart journal
2026

Timing of Arterial Switch Operation in Dextro-Transposition of Great Arteries with Intact Septum: Factors Associated with Delay, Practice Variation, and Associated Outcomes.

Pediatric cardiology
2025

Double-Outlet Left Ventricle With Leftward Anterior Aorta in Infants.

JACC. Case reports
2025

Double "dynamic" balloon atrial septostomy. New modification of Dr. Rashkind's technique for cases with thickened interatrial septum.

Archivos de cardiologia de Mexico
2025

Single and Double Root Translocation for Transposition and Malposition of the Great Arteries.

Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annual
2025

Clarifying the cardiovascular morphology and associated abnormalities in patients with tricuspid Atresia using multidetector computed tomography angiography.

The international journal of cardiovascular imaging
2025

Aspirin Use Following the Arterial Switch Operation in the United States: Variability, Trends, and Perioperative Outcomes.

World journal for pediatric &amp; congenital heart surgery
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

Alterations in portal vein confluence during gastric cancer surgery: two case reports.

Korean journal of clinical oncology
2025

The Prevalence of Associated Congenital Cardiac Anomalies (Shunt-Dependent Lesions) in Children with Transposition of Great Artery.

Nigerian journal of clinical practice
2025

Three different surgical approaches for complex transposition of the great arteries with ventricular septal defect and pulmonary stenosis.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Total anomalous pulmonary venous connection - prenatal echocardiography and neonatal follow-up.

Journal of ultrasonography
2025

Prediction of Coronary Artery Abnormalities Using Computed Tomography Angiography and Transthoracic Echocardiography Before Arterial Switch Operation İn Neonates With Dextro-Transposition of the Great Arteries.

Journal of clinical ultrasound : JCU
2025

Two decades after the arterial switch operation: stable right ventricular function but reduced exercise capacity.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2025

Heart failure in patients with a systemic right ventricle: A multicentre study with long-term follow-up.

European journal of heart failure
2025

Outcome of Pregnancy in Women With Congenitally Corrected Transposition of the Great Arteries: A Systematic Review.

The American journal of cardiology
2025

When to Opt for Univentricular versus Biventricular Repair in Complex Congenitally Corrected Transposition of the Great Arteries.

Seminars in thoracic and cardiovascular surgery
2025

Practical approach to using cardiac magnetic resonance imaging for pre-surgical planning in complex paediatric congenital heart disease.

Pediatric radiology
2025

Benefits and risks of implantable cardioverter-defibrillators in children and young adults with congenital heart disease, primary electrical disease or paediatric cardiomyopathy†.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Congenital Heart Defects and Apgar Score at Birth, a Nationwide Study.

Journal of the American Heart Association
2025

Surgical Management of a Right Coronary Artery Fistula After Failed Transcatheter Closure: A Case Report.

Cureus
2025

Highly accelerated 4D flow MRI with respiratory compensation and cardiac view sharing: a cross-sectional study of flow in the great vessels of pediatric congenital heart disease.

Pediatric radiology
2025

Case Report: Atrial baffles of pulmonary and systemic veins for the anatomic and physiologic repair of left atrial isomerism heterotaxy-pre- and post-operative three-dimensional reconstructions of two mirror-image pediatric hearts.

Frontiers in cardiovascular medicine
2025

Novel Therapies for Patients With Systemic Right Ventricle.

The Canadian journal of cardiology
2025

Anatomical repair for late presentation of congenitally corrected transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction in an 18-year-old.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Transversal cardiac diameter is increased in fetuses with dextro-transposition of the great arteries older than 28th weeks of gestation.

Journal of perinatal medicine
2025

A Coronary Challenge: Management of Dextro-Transposition With Levo-Malposed Great Vessels.

World journal for pediatric &amp; congenital heart surgery
2025

Developmental language trajectories in children with critical CHD.

Cardiology in the young
2025

Intracavitary blood flow dynamics in the systemic right ventricle after atrial switch operation: a shift from transverse to longitudinal systolic pattern.

The international journal of cardiovascular imaging
2025

Pathophysiology and management of adults with complex congenital heart disease after biventricular repair.

Journal of cardiology
2025

Hemodynamic interplay of ventricular, atrial and aortic function in patients after arterial switch operation: insights from cardiac MRI.

Cardiovascular diagnosis and therapy
2025

Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model.

Disease models &amp; mechanisms
2025

The arterial switch operation for transposition of the great arteries with left ventricular outflow tract obstruction and ventricular septal defect: clinical outcomes and specimen study.

Interdisciplinary cardiovascular and thoracic surgery
2025

Outcomes of Fontan operation in patients with conotruncal anomalies from Australia and New Zealand Fontan Registry: a review of 1835 patients†.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

A cohort evaluation of surgical pathways reported to a national audit of children undergoing treatment for congenital heart disease in England and Wales.

The Journal of thoracic and cardiovascular surgery
2025

Primary repair versus pulmonary artery banding in complete atrioventricular canal defects in the modern surgical era.

The Journal of thoracic and cardiovascular surgery
2026

Virtual Post Mortem in Fetuses and Newborns for the Verification of Congenital Heart Malformations.

Pediatric cardiology
2025

Developmental and Psychological Concerns in Children With Complex Congenital Heart Disease: The Need for a Screening Program.

Journal of paediatrics and child health
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

Using the Six-Minute Walk Test to Evaluate Functional Capacity of Children Undergoing a Surgical Repair of Congenital Heart Disease: Two Case Reports.

Cureus
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

Intraoperative fluorescence angiography after arterial switch operation.

Asian cardiovascular &amp; thoracic annals
2025

The Association Between Residual Lesion Score and Long-term Outcomes of Congenital Cardiac Operations.

The Annals of thoracic surgery
2025

Ventricular-arterial coupling is associated with clinical outcomes in patients with systemic right ventricle.

American heart journal
2025

Prenatal VEGF Nanodelivery Reverses Congenital Diaphragmatic Hernia-associated Pulmonary Abnormalities.

American journal of respiratory and critical care medicine
2025

Coronary sinus unroofing associated with congenitally corrected transposition of the great arteries: a case report.

European heart journal. Case reports
2025

A risk score to predict kidney survival in patients with autosomal recessive polycystic kidney disease at the age of two months.

Kidney international
2025

Right Ventricular Electrophysiology and Arrhythmias in Adults With Congenital Heart Disease: Scientific Basis for Management.

The Canadian journal of cardiology
2025

Long-Term Coronary Artery Complications Following the Arterial Switch Operation for Transposition of the Great Arteries-A Scoping Review.

World journal for pediatric &amp; congenital heart surgery
2025

Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes.

Journal of the American Heart Association
2025

Surgical Repair of Anatomically Corrected Malposition of the Great Arteries Associated With Ventricular Septal Defect.

JACC. Case reports
2026

Incidence and Prognosis of Surgical Heart Block in Patients with L-transposition of the Great Arteries.

Pediatric cardiology
2025

Short- and Long-Term Outcomes of Patients Who Underwent the Arterial Switch Operation at Siriraj Hospital-Thailand's Largest National Tertiary Referral Center.

World journal for pediatric &amp; congenital heart surgery
2025

Immediate and Intermediate-Term Outcomes of Infants With Transposition of Great Arteries Who Underwent Balloon Atrial Septostomy in Sudan.

Global heart
2025

Mixed reality for preoperative planning and intraoperative assistance of surgical correction of complex congenital heart defects.

The Journal of thoracic and cardiovascular surgery
2025

Left Coronary Artery-Right Ventricle Fistula Case Report: Optimal Treatment Decision.

Medicina (Kaunas, Lithuania)
2025

Torn spiral patch repair of ventricular septation for single ventricle associated with D-malposition of the great arteries after 40 years.

Cardiology in the young
2025

Perioperative extracorporeal membrane oxygenation in neonates with transposition of the great arteries: 15 years of experience.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Commissural malalignment on echocardiography as a predictor of coronary artery abnormalities in newborns with transposition of great arteries.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
2025

A Rare Case of Dichorionic Twins Concordant for Arterial Tortuosity Syndrome: Case Report and Review of the Literature.

Fetal diagnosis and therapy
2025

Anesthesia management for cesarean delivery in patients with an arterial switch operation: a single center case series (2015-2023).

International journal of obstetric anesthesia
2025

Arrhythmia burden in congenitally corrected transposition of the great arteries: Does treatment pathway matter?

Heart rhythm
2025

The internal jugular approach for baffle puncture and ablation of atrial arrhythmias in patients with atrial switch procedures: a retrospective analysis.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
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A Juxta-Arterial and Perimembranous Confluent Ventricular Septal Defect in Transposition of the Great Arteries.

World journal for pediatric &amp; congenital heart surgery
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Elective Aortic Surgery for Prevention of Aortic Dissection in Turner Syndrome: The Potential Impact of Updated European Society of Cardiology and International Turner Syndrome Consensus Group Guidelines on Referrals to the Heart Team.

Clinical endocrinology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita

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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. Anaesthetic management of a paediatric patient with situs inversus totalis and congenitally corrected transposition of the great arteries undergoing adenotonsillectomy.
    BMJ case reports· 2026· PMID 41667201mais citado
  2. Arrhythmias in congenitally corrected transposition of the great arteries: an international study.
    European heart journal· 2026· PMID 40679844mais citado
  3. Persistent Double Dorsal Aorta and Complex Congenital Heart Disease - A Case Report.
    Journal of the Saudi Heart Association· 2026· PMID 41847119mais citado
  4. Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.
    Journal of clinical medicine· 2026· PMID 41827132mais citado
  5. Prenatal Diagnosis of Isolated Congenitally Corrected Transposition of the Great Arteries.
    Cureus· 2026· PMID 41804411mais citado
  6. One-stage repair of Taussig-Bing anomaly in a neonate with aortic arch hypoplasia and single coronary artery.
    Multimed Man Cardiothorac Surg· 2026· PMID 41757411recente
  7. Lacunar stroke with incidental congenital absence of the internal carotid artery: importance of recognising a rare anatomical variant.
    BMJ Case Rep· 2025· PMID 41475876recente
  8. Surgery for coronary anomaly: Intramural single trunk between the great arteries.
    Asian Cardiovasc Thorac Ann· 2026· PMID 41432701recente
  9. The Role of Stress Echocardiography in Patients With Anomalous Aortic Origin of Coronary Arteries: Two Tertiary Cardiac Centers' Experience.
    Echocardiography· 2025· PMID 41395835recente
  10. Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-Type Total Anomalous Pulmonary Venous Connection.
    Pediatr Dev Pathol· 2026· PMID 41355708recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98724(Orphanet)
  2. MONDO:0020292(MONDO)
  3. GARD:19556(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55789284(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

Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita
Compêndio · Raras BR

Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita

ORPHA:98724 · MONDO:0020292
Medicamentos
10 registrados
MedGen
UMLS
C0948632
Wikidata
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