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Tronco arterial comum com dominância aórtica
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Introdução

O que você precisa saber de cara

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O tronco arterial persistente (TAP), muitas vezes referido simplesmente como tronco arterial, é uma forma rara de cardiopatia congênita que se manifesta ao nascimento. Nesta condição, a estrutura embriológica conhecida como tronco arterial não se divide adequadamente em tronco pulmonar e aorta. Isso resulta em um único tronco arterial que emerge do coração e fornece sangue misturado às artérias coronárias, artérias pulmonares e circulação sistêmica. Para a Classificação Internacional de Doenças (CID-11), foi desenvolvido o Código Internacional de Cardiologia Pediátrica e Congênita (IPCCC) para padronizar a nomenclatura das cardiopatias congênitas. Sob este sistema, o inglês é agora o idioma oficial, e o tronco arterial persistente deve ser corretamente denominado tronco arterial comum.

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SUS: Sem cobertura SUSScore: 0%
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Entender a doença

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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos13publicações
Pico20203 papers
Linha do tempo
20202015Hoje · 2026📈 2020Ano de pico
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

2 genes identificados com associação a esta condição.

GATA6Transcription factor GATA-6Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional activator (PubMed:19666519, PubMed:22750565, PubMed:22824924, PubMed:27756709). Regulates SEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulation specifically in the gastric epithelium (PubMed:9315713). May regulate genes that protect epithelial cells from bacterial infection (PubMed:16968778). Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activati

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
Formation of definitive endodermCardiogenesisDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsSurfactant metabolismFactors involved in megakaryocyte development and platelet production
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
121.3 TPM
Glândula adrenal
65.6 TPM
Fallopian Tube
61.2 TPM
Aorta
54.6 TPM
Artéria coronária
51.1 TPM
OUTRAS DOENÇAS (11)
conotruncal heart malformationstetralogy of fallotpancreatic hypoplasia-diabetes-congenital heart disease syndromeatrial septal defect 9
HGNC:4174UniProt:Q92908
TBX1T-box transcription factor TBX1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair f

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Cardiogenesis
VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
34.8 TPM
Músculo esquelético
27.5 TPM
Tireoide
22.5 TPM
Fallopian Tube
19.1 TPM
Cervix Ectocervix
15.9 TPM
OUTRAS DOENÇAS (9)
tetralogy of fallotvelocardiofacial syndromeDiGeorge syndromeconotruncal heart malformations
HGNC:11592UniProt:O43435

Variantes genéticas (ClinVar)

733 variantes patogênicas registradas no ClinVar.

🧬 GATA6: GRCh38/hg38 18q11.1-23(chr18:20966775-80255845)x3 ()
🧬 GATA6: NM_005257.6(GATA6):c.1405G>A (p.Gly469Arg) ()
🧬 GATA6: NM_005257.6(GATA6):c.1486A>T (p.Lys496Ter) ()
🧬 GATA6: NM_005257.6(GATA6):c.1429-2A>G ()
🧬 GATA6: NM_005257.6(GATA6):c.1481_1487del (p.Lys494fs) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

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Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Surgical Repair of a Rare Variant of Common Arterial Trunk, With Considerations of its Significance for Morphogenesis.

World journal for pediatric & congenital heart surgery2023 Jul

We present a successful surgical repair of a rare variant of the common arterial trunk with unusual arrangement of the pulmonary arteries. The variant was not readily classified using either of the popular classifications for the common arterial trunk. It is appropriately described as a common arterial trunk showing aortic dominance, but with extrapericardial origin of the pulmonary arteries from the underside of the truncal arch. We also provide an account of cardiac development, which we suggest offers an accurate explanation for its morphogenesis.

#2

Use of 3D volume-rendered CT imaging in analysing the anatomy of an unusual type of common arterial trunk.

Cardiology in the young2023 Mar

A common arterial trunk with pulmonary dominance is rare. We report the use of 3D volume-rendered CT imaging to define common arterial trunk with pulmonary arterial dominance and associated abnormalities.

#3

Common arterial trunk with crossed pulmonary arteries.

Journal of cardiac surgery2022 Mar

We report a case of a 27-day-old girl with an unusual association of crossed pulmonary arteries with common arterial trunk showing pulmonary dominance with an interruption of aortic arch between the origin of the left common carotid artery and left subclavian artery. This case highlights the potential airway-related implications of this variant pulmonary arterial anatomy in the setting of the common arterial trunk and the role of computed tomography angiography in providing not only accurate and three-dimensional visualization of complex cardiovascular anatomy, but also a comprehensive evaluation of associated airway abnormalities with great precision.

#4

Large aortopulmonary collateral artery exclusively supplying the lower lobe of left lung in an infant with common arterial trunk with aortic dominance with confluent pulmonary arteries.

Journal of cardiac surgery2022 Feb

Common arterial trunk with aortic dominance has well-developed bilateral pulmonary arterial arborization without any essential major aortopulmonary collateral arteries (MAPCAs), whereas "solitary" arterial trunk is characterized by collateral arterial supply to all bronchopulmonary segments and absent pulmonary arteries. We report a term female neonate with common arterial trunk with aortic dominance with confluent pulmonary arteries with a large MAPCA as the sole blood supply to the lower lobe of the left lung. Initial diagnostic workup missed this MAPCA from the descending thoracic aorta. It was suspected during surgery due to massive left atrial return and confirmed by cardiac catheterization study in the early postoperative period and treated successfully by unifocalization. A large essential MAPCA supplying an entire lobe in the common arterial trunk with aortic dominance has not been described. It can present as heart failure and inability to wean off the ventilator in the early postoperative period following intracardiac repair. This is a case hitherto undescribed and possibly falling outside the well-entrenched classifications of the common arterial trunk and a large MAPCA could be an addition to the list of lesion modifiers. Our experience with this case underlines the importance of a thorough and open-minded approach to the initial imaging assessment of even well-described conditions.

#5

Successful surgical repair of pulmonary dominant common arterial trunk without aortic arch obstruction in a neonate.

Annals of pediatric cardiology2021

The pulmonary dominant variant of the common arterial trunk has always been reported to be associated with aortic coarctation, or interruption of the aortic arch, along with a duct-dependent systemic circulation. This mandates a complex surgical repair with attendant high surgical mortality. We report a 23-day-old baby with a pulmonary dominant trunk with mild aortic hypoplasia but with an arch free of coarctation or interruption, who underwent successful surgical repair. In the preoperative evaluation of a common arterial trunk, pulmonary dominance may not necessarily denote an adverse risk factor when the aorta is only mildly hypoplastic.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 13

2023

Surgical Repair of a Rare Variant of Common Arterial Trunk, With Considerations of its Significance for Morphogenesis.

World journal for pediatric & congenital heart surgery
2023

Use of 3D volume-rendered CT imaging in analysing the anatomy of an unusual type of common arterial trunk.

Cardiology in the young
2022

Common arterial trunk with crossed pulmonary arteries.

Journal of cardiac surgery
2022

Large aortopulmonary collateral artery exclusively supplying the lower lobe of left lung in an infant with common arterial trunk with aortic dominance with confluent pulmonary arteries.

Journal of cardiac surgery
2021

Successful surgical repair of pulmonary dominant common arterial trunk without aortic arch obstruction in a neonate.

Annals of pediatric cardiology
2021

Common arterial trunk in a cat: a high-resolution morphological analysis with micro-computed tomography.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2020

Systolic excursion of the leaflets of the truncal valve: An unusual mechanism for pulmonary stenosis in common arterial trunk.

Annals of pediatric cardiology
2020

Clarifying the anatomy of common arterial trunk: a clinical study of 70 patients.

European heart journal. Cardiovascular Imaging
2019

Surgical repair for common arterial trunk with pulmonary dominance, hypoplasia of ascending aorta, and interrupted aortic arch.

Annals of pediatric cardiology
2020

Successful surgical repair for common arterial trunk with anterior crisscross pulmonary arteries and right aortic arch causing right bronchial compression.

General thoracic and cardiovascular surgery
2017

Sequential segmental analysis of the crocodilian heart.

Journal of anatomy
2017

Developmental considerations with regard to so-called absence of the leaflets of the arterial valves.

Cardiology in the young
2015

Persistent truncus arteriosus with aortic dominance in female adult patient.

Journal of cardiovascular ultrasound

Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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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.

  1. Surgical Repair of a Rare Variant of Common Arterial Trunk, With Considerations of its Significance for Morphogenesis.
    World journal for pediatric & congenital heart surgery· 2023· PMID 36919266mais citado
  2. Use of 3D volume-rendered CT imaging in analysing the anatomy of an unusual type of common arterial trunk.
    Cardiology in the young· 2023· PMID 36647705mais citado
  3. Common arterial trunk with crossed pulmonary arteries.
    Journal of cardiac surgery· 2022· PMID 34994486mais citado
  4. Large aortopulmonary collateral artery exclusively supplying the lower lobe of left lung in an infant with common arterial trunk with aortic dominance with confluent pulmonary arteries.
    Journal of cardiac surgery· 2022· PMID 34727400mais citado
  5. Successful surgical repair of pulmonary dominant common arterial trunk without aortic arch obstruction in a neonate.
    Annals of pediatric cardiology· 2021· PMID 34667419mais citado
  6. Dual Radial and Femoral Arterial Access for Mechanical Thrombectomy in Acute Middle Cerebral Artery Occlusion: A Case Report.
    Am J Case Rep· 2025· PMID 41168934recente
  7. Atypical sites of origin of the main renal artery - narrative review.
    Folia Med Cracov· 2024· PMID 40899080recente
  8. Predictive factors of surgical repair technique in infants with coarctation of the aorta.
    Eur Heart J Qual Care Clin Outcomes· 2026· PMID 40795268recente
  9. Outcomes following repair of truncus arteriosus with interrupted aortic arch.
    J Thorac Cardiovasc Surg· 2025· PMID 40716727recente
  10. Origin of median sacral artery with fourth pair of lumbar artery - an alert for spine surgeons and interventionalists: A case report and mini literature review.
    Folia Med Cracov· 2024· PMID 39324678recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:665044(Orphanet)
  2. MONDO:0971107(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)

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

Tronco arterial comum com dominância aórtica
Compêndio · Raras BR

Tronco arterial comum com dominância aórtica

ORPHA:665044 · MONDO:0971107
MedGen
UMLS
C4546067
EuropePMC
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