Vasculite inflamatória rara de grandes vasos que afeta principalmente a aorta e seus principais ramos, mas também outros grandes vasos, causando estenose, oclusão ou aneurisma.
Introdução
O que você precisa saber de cara
Vasculite inflamatória rara de grandes vasos que afeta principalmente a aorta e seus principais ramos, mas também outros grandes vasos, causando estenose, oclusão ou aneurisma.
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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
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 55 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição.
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
Secreted
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.
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
CytoplasmNucleus
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
Cell membraneEndoplasmic reticulum membrane
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.
Variantes genéticas (ClinVar)
62 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
14 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 — Arco aórtico cervical
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
A heartbeat in the neck: cervical aortic arch with Kommerell diverticulum in an adolescent.
We present a 14-year-old female with a history of ventricular septal defect repair who presented with a striking complaint of a heartbeat sensation in the neck and was subsequently diagnosed with a rare cervical aortic arch, classified as Zhong's B2 and Haughton's B type, associated with a Kommerell diverticulum. Comprehensive cross-sectional imaging and conventional angiography excluded true and pseudo-coarctation, highlighting the importance of meticulous anatomical assessment in directing treatment and preventing unnecessary interventions in asymptomatic or non-obstructive cases.
Right Cervical Aortic Arch and Aberrant Subclavian Artery Causing Vascular Ring Formation.
This case report describes a congenital anomaly involving a right cervical aortic arch and an aberrant subclavian artery (ASA) leading to vascular ring (VR) formation. This anomaly is characterized by the presence of the aortic arch in the cervical region rather than the thoracic cavity. The ASA can contribute to the formation of a VR encircling the trachea and esophagus, potentially causing severe respiratory complications. Early diagnosis and effective management in pediatric patients are crucial, given the life-threatening risk of respiratory compromise. In this case, the patient was diagnosed prenatally and initially exhibited only mild respiratory symptoms. Over time, however, the patient developed breathing difficulties and recurrent infections secondary to the VR, which prompted bronchoscopy, microlaryngoscopy, and subsequent surgical intervention. The VR was surgically corrected through aortic uncrossing and reimplantation of the right subclavian artery. Fewer than five prior reports have documented a similar case, underscoring the importance of promptly recognizing the symptoms of a potential vascular anomaly to preserve airway integrity. This report contributes to establishing surgical criteria and intervention strategies, thereby enhancing preparedness for managing similar congenital cardiac abnormalities in the future.
Intraoperative aortic dissection in a patient with cervical aortic arch.
Cervical aortic arch (CAA) is a rare malformation. Herein, we report a 58-year-old female patient diagnosed with left CAA with descending aortic aneurysm. Initially, the descending aorta replacement was planned via left rib-cross thoracotomy. However, because of intraoperative aortic dissection during mobilization, total arch replacement was performed via emergent median sternotomy first. The main body of the synthetic graft was then guided to the left thoracotomy view, and the peripheral anastomosis of the descending aorta was performed. The surgery was successfully completed. The surgical management of CAA remains unstandardized due to its rarity and complex abnormalities. As aortic wall thinning can easily lead to aortic dissection, careful manipulation is required during mobilization.
Cervical aortic arch: a rare congenital anomaly.
Congenital Aortic Arch Malformation Presenting as Bilateral Pulsatile Neck Mass: A Unique Case Report.
Vascular malformations of the aortic arch and its main branches such as cervical aortic arch and high-riding brachiocephalic artery can present as pulsatile neck swelling. Although this entity is rare, an initial Doppler ultrasound is suggested before intervention to avoid complications from unidentified aberrant vessels.
Publicações recentes
A heartbeat in the neck: cervical aortic arch with Kommerell diverticulum in an adolescent.
Right Cervical Aortic Arch and Aberrant Subclavian Artery Causing Vascular Ring Formation.
Cervical aortic arch: a rare congenital anomaly.
Intraoperative aortic dissection in a patient with cervical aortic arch.
Congenital Aortic Arch Malformation Presenting as Bilateral Pulsatile Neck Mass: A Unique Case Report.
📚 EuropePMC144 artigos no totalmostrando 43
A heartbeat in the neck: cervical aortic arch with Kommerell diverticulum in an adolescent.
Cardiology in the youngRight Cervical Aortic Arch and Aberrant Subclavian Artery Causing Vascular Ring Formation.
CureusCervical aortic arch: a rare congenital anomaly.
Anales de pediatriaIntraoperative aortic dissection in a patient with cervical aortic arch.
Interdisciplinary cardiovascular and thoracic surgeryCongenital Aortic Arch Malformation Presenting as Bilateral Pulsatile Neck Mass: A Unique Case Report.
Clinical case reportsClinical Presentation and Management of the Cervical Aortic Arch in the Adult Population: A Review of Case Reports.
Journal of cardiothoracic and vascular anesthesia[Complex right cervical aortic arch repair: less is more].
Giornale italiano di cardiologia (2006)Case report: A novel combination of anomalies in a patient with 22q11.2 deletion syndrome.
Frontiers in pediatricsCervical aortic arch in the pediatric population: a meta-analysis of individual patient's data.
Frontiers in cardiovascular medicineUnusual Aneurysm of a Cervical Aortic Arch: Surgical Repair Improves Fluid Dynamics.
World journal for pediatric & congenital heart surgerySurgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryRight cervical aortic arch associated with anomaly of epiaortic vessels and haemodynamically significant obstruction between ascending and descending aorta. Extra-anatomic bypass graft between ascending and descending aorta and long-term follow-up.
Cardiology in the youngA case of DiGeorge syndrome presenting with a cervical aortic arch.
Archives of gynecology and obstetricsLeft cervical and circumflex aortic arch with aberrant right subclavian artery arising from a Kommerell diverticulum: A rare vascular ring.
Annals of pediatric cardiologyOrigin of the left common carotid artery from ascending aorta in association with tetralogy of Fallot and hypoplastic right cervical aortic arch.
Journal of cardiac surgeryCongenital Anomalies of Aortic Arch: A Pictorial Essay.
The Indian journal of radiology & imagingCervical aortic arch with aneurysm formation and an anomalous right subclavian artery and left vertebral artery: A case report.
World journal of clinical casesCongenital Cervical Aortic Arch Accompanying Aortic Arch Aneurysm: A Case Report.
Balkan medical journalCervical Aortic Arch with Hypoplastic Left Common Carotid Artery and Subaortic Left Brachiocephalic Vein.
Radiology. Cardiothoracic imagingFetal echocardiographic diagnosis of a triad with common embryological origins: Cervical aortic arch, retro-aortic left innominate vein and coarctation of the aorta.
Echocardiography (Mount Kisco, N.Y.)Surgical management of lesions encountered in the setting of the retroaortic left brachiocephalic vein.
Journal of cardiac surgeryUpper Airway Obstruction in an Adult: An Unusual Presentation-Dissection of the Cervical Aortic Arch.
Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care MedicineCarotid-Carotid Transposition for Zone 1 Thoracic Endovascular Aortic Repair.
Annals of vascular surgeryVirtual modeling and interactive virtual reality display of unusual high-riding cervical aortic arch.
Annals of pediatric cardiologyIsolated subclavian or brachiocephalic arteries with tetralogy of Fallot, left retro-aortic brachiocephalic vein.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyA case of tortuous anatomy: cervical aortic arch.
European heart journalThe aortic arch in tetralogy of Fallot: types of branching and clinical implications.
Cardiology in the youngSurgical repair of cervical aortic arch: An alternative classification scheme based on experience in 35 patients.
The Journal of thoracic and cardiovascular surgeryCommentary: Cervical aortic arch repair-an overarching success.
The Journal of thoracic and cardiovascular surgeryManagement of cervical aortic arch complicated by multiple aneurysms.
Interactive cardiovascular and thoracic surgeryPrenatal diagnosis of right-sided cervical aortic arch with aberrant left subclavian artery and absent ductus arteriosus in tetralogy of Fallot.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyCervical aortic arch-when the aorta gets high.
Indian journal of thoracic and cardiovascular surgeryCervical aortic arch: an unusual cause of a pulsatile neck mass.
BMJ case reportsCervical left aortic arch with distal tortuosity causing coarctation and aneurysmal formation in a child.
Journal of cardiac surgeryAnomaly of Haughton type D left cervical aortic arch in combination with type B dissection: case report and literature review.
Journal of cardiothoracic surgeryA rare case of right corkscrew cervical aortic arch associated with retrotracheal aberrant left brachiocephalic vein.
Kardiologia polskaVisualization of Monocytic Cells in Regressing Atherosclerotic Plaques by Intravital 2-Photon and Positron Emission Tomography-Based Imaging-Brief Report.
Arteriosclerosis, thrombosis, and vascular biologyAn unusual case of interrupted cervical aortic arch associated with long segment coarctation of the descending thoracic aorta.
Cardiology in the youngSurgical Repair of Cervical Aortic Arch With Brain Circulation Anomaly Through Clamshell Incision.
The Annals of thoracic surgerySurgical repair of a pseudocoarctation with cervical aortic arch complicated by multiple aneurysms of the aorta: a case report.
The Pan African medical journalAbsent right common carotid artery associated with aberrant right subclavian artery.
The neuroradiology journalA unique case of right cervical aortic arch with anomalous left common carotid artery and absent right common carotid artery.
Annals of medicine and surgery (2012)Complex Cervical Aortic Arch With Hypoplasia: A Simple Solution to a Complex Problem.
The Annals of thoracic surgeryAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Arco aórtico cervical.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- A heartbeat in the neck: cervical aortic arch with Kommerell diverticulum in an adolescent.
- Right Cervical Aortic Arch and Aberrant Subclavian Artery Causing Vascular Ring Formation.
- Intraoperative aortic dissection in a patient with cervical aortic arch.
- Cervical aortic arch: a rare congenital anomaly.
- Congenital Aortic Arch Malformation Presenting as Bilateral Pulsatile Neck Mass: A Unique Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99079(Orphanet)
- OMIM OMIM:207600(OMIM)
- MONDO:0017991(MONDO)
- GARD:7730(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014550(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
