Raras
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Ausência de veia inominada
ORPHA:99112CID-10 · Q26.8CID-11 · LA86.YDOENÇA RARA

Insuficiência venosa crônica cerebrospinal (CCSVI) Chronic cerebro-spinal venous insufficiency (em inglês).

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Introdução

O que você precisa saber de cara

📋

Condição rara caracterizada pela ausência congênita da veia inominada (veia braquiocefálica), que normalmente drena o sangue da cabeça, pescoço e braços para a veia cava superior. Pode ser assintomática ou causar sintomas de congestão venosa.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q26.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

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

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Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos51publicações
Pico202110 papers
Linha do tempo
20202015Hoje · 2026📈 2021Ano 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

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Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Ausência de veia inominada

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Prenatal ultrasound diagnosis and prognosis of persistent left superior vena cava: a 10-year retrospective cohort study at a single center in China.

Frontiers in medicine2026

To describe the prenatal ultrasound characteristics of persistent left superior vena cava (PLSVC) in fetuses and its correlation with related malformations, chromosomal abnormalities, and clinical outcomes. A 10-year retrospective analysis of the clinical and ultrasound data of 898 fetuses diagnosed with PLSVC at our center was conducted. Ultrasound characteristics of PLSVC type were summarised systematically, and incidence rates of abnormalities and pregnancy outcomes of PLSVC types were determined. Diagnosing PLSVC requires the 4CV, 3VV and 3VT views, while auxiliary classification requires parasagittal and innominate vein views. PLSVC ultrasound features include coronary sinus dilation and an additional vascular cross-section on the left side of the pulmonary artery. Types I and II PLSVC involved 94.2% vs. 5.8% of cases, respectively. Type I PLSVC had lower incidence of abnormalities (70.3%) than Type II (100%; p < 0.001) and higher birth rates (63.5% vs. 7.7%; p < 0.001). However, they differed non-significantly in incidence of chromosomal abnormalities (p > 0.05). Of fetuses, 28.0 and 72.0% had isolated and non-isolated PLSVC, respectively. Lower incidence of chromosomal abnormalities occurred in fetuses with isolated PLSVC (7.8%) than that in non-isolated PLSVC (22.0%; p < 0.05). Among the non-isolated group, the subgroup with coexisting cardiac and extracardiac abnormalities had the highest incidence of chromosomal abnormalities (39.5%; p < 0.005). Higher live birth rate occurred for fetuses with isolated PLSVC (99.2%) than for non-isolated PLSVC (45.1%; p < 0.001). Multifaceted prenatal ultrasound is valuable for classifying and categorizing fetal PLSVC. Classifying PLSVC and assessing accompanying abnormalities is key to determining prognosis. Type II or non-isolated PLSVC, when accompanied by intracardiac and extracardiac abnormalities, requires enhanced genetic testing and multidisciplinary management. Contrariwise, Type I or isolated PLSVC has good prognosis.

#2

Cardiac Transplantation in a Patient With Situs Inversus Totalis and Extracardiac Fontan.

JACC. Case reports2025 Aug 06

This case report describes a successful dextrocardia-preserving orthotopic heart transplant in a patient with situs inversus totalis and an extracardiac Fontan, utilizing a levocardia donor heart. The donor heart was rotated 90° counterclockwise along its longitudinal axis to optimize inferior venous connection and incorporate existing extracardiac Fontan. Superior venous connections were secured using a harvesting technique preserving the innominate vein. A GORE-TEX graft was wrapped around the innominate vein to prevent its compression as it passed through the aortic arch. Counterclockwise rotation requires adequate pulmonary artery length. In the absence of extra aortic tissue to allow mild aortic bowing and prevent superior venous obstruction, a GORE-TEX graft offers an effective alternative to maintain unobstructed superior venous drainage. Dextrocardia-preserving transplantation is feasible with a 90° counterclockwise rotation. Reusing the extracardiac Fontan reduces ischemic time; reinforcing the innominate vein with GORE-TEX prevents compression, securing venous integrity.

#3

A case report of primary mucinous adenocarcinoma of the thymus and review of the literature.

Journal of surgical case reports2025 Jul

Thymic mucinous adenocarcinoma is an extremely rare and aggressive malignant tumor of the thymus with a very low 5-year survival rate. Here, we report a case of surgically resected primary mucinous adenocarcinoma of the thymus in a patient in his 60s who was admitted to the hospital with chest tightness for 2 weeks. The patient underwent median sternotomy and thymectomy, including resection of the brachiocephalic vein and partial resection of the superior vena cava wall. Histopathologic examination confirmed the diagnosis of mucinous adenocarcinoma, staged as pT2aN2M0 (IVB). Immunohistochemical analysis showed negative expression of CK20 and CK7, and preoperative carcinoembryonic antigen levels were within the normal range.

#4

Atypical Lead Pathway Leading to Vocal Cord Paralysis and Tracheostomy Following Pacemaker Implantation.

Journal of clinical medicine2025 Jun 20

The axillary and cephalic veins are commonly utilized for transvenous pacemaker lead access. They typically advance to the heart through the subclavian, brachiocephalic, and superior vena cava veins. Anatomical variations such as a persistent left superior vena cava (PLSVC) may pose a challenge, necessitating an alternative approach for lead placement. This anomaly can often be identified during venographic contrast imaging or by visualizing atypical venous courses during the procedure. Another challenge occurs when the venous pathway is tortuous. Careful monitoring during the procedure is crucial to ensure that the lead follows the intended path. If not, the lead may inadvertently enter a collateral, such as the inferior thyroid vein, which drains into the internal jugular or left brachiocephalic vein. Despite these deviations, the lead may eventually reach the heart, although via an unusual course. If such a lead is left in place, even in the absence of immediate complications, long-term outcomes are unpredictable and carry the risk of unforeseen complications.

#5

Use of a Reentry Device for Endovascular Recanalization of Central Venous Occlusions Associated With Failing Hemodialysis Access.

Hemodialysis international. International Symposium on Home Hemodialysis2025 Oct

To evaluate the technical feasibility and safety of a reentry device for endovascular recanalization of central venous occlusions associated with dysfunctional arteriovenous fistulas. Between January 2013 and December 2023, 20 patients (13 women; mean age, 61.1 years) with dysfunctional fistulas attributed to central venous occlusion underwent treatment using an Outback LTD reentry device. All patients had experienced unsuccessful recanalization attempts using conventional endovascular techniques. Symptoms included increased venous pressure during hemodialysis (N = 8), arm swelling (N = 8), absence of flow (N = 1), graft thrombosis (N = 2), and maturation failure (N = 1). The mean age of the fistulas was 56.1 months, and 11 patients had a history of angioplasty. An Outback LTD reentry device was used when conventional endovascular techniques were unsuccessful. Occlusions were observed at the junction of the subclavian and innominate veins (N = 15) and in the right innominate vein (N = 2), subclavian vein (N = 1), and axillary vein of the arm (N = 2). The reentry device was introduced via the fistula (N = 11), femoral vein (N = 8), or internal jugular vein (N = 1). Technical success was achieved in 18 patients (90.0%), all of whom successfully underwent hemodialysis. Eight patients with arm swelling experienced symptom relief. In the 14 patients available for long-term follow-up, the mean intervention-free period was 5.0 months, and the mean functional period of the fistula, with or without subsequent endovascular treatment, was 23.0 months. No complications were observed. An Outback reentry device may be used for central venous occlusions when conventional techniques are unsuccessful.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 51

2026

Prenatal ultrasound diagnosis and prognosis of persistent left superior vena cava: a 10-year retrospective cohort study at a single center in China.

Frontiers in medicine
2025

Cardiac Transplantation in a Patient With Situs Inversus Totalis and Extracardiac Fontan.

JACC. Case reports
2025

A case report of primary mucinous adenocarcinoma of the thymus and review of the literature.

Journal of surgical case reports
2025

Atypical Lead Pathway Leading to Vocal Cord Paralysis and Tracheostomy Following Pacemaker Implantation.

Journal of clinical medicine
2025

Use of a Reentry Device for Endovascular Recanalization of Central Venous Occlusions Associated With Failing Hemodialysis Access.

Hemodialysis international. International Symposium on Home Hemodialysis
2024

Central venoplasty followed by 'double guidewire railroad technique' as a bailout strategy in difficult tunnelled dialysis catheter insertion.

Nephrology (Carlton, Vic.)
2024

Case of Isolated Absence of the Azygos Vein: Evaluation Using Photon-counting Detector CT.

The Tokai journal of experimental and clinical medicine
2024

Rare central venous catheter position due to absence of the left brachiocephalic vein resembling lung penetration.

Oxford medical case reports
2024

Case Report: Transcatheter interventional procedure to innominate vein turn-down procedure for failing fontan circulation.

Frontiers in pediatrics
2023

The predictive value of a computed tomography-based radiomics model for the surgical separability of thymic epithelial tumors from the superior vena cava and the left innominate vein.

Quantitative imaging in medicine and surgery
2023

Life changing response to successive surgical interventions on cranial venous outflow: A case report on chronic fatigue syndrome.

Frontiers in neurology
2023

Successful surgical repair in an older adult with supracardiac total anomalous pulmonary venous connection: A case report.

Frontiers in cardiovascular medicine
2023

Current diagnostic and therapeutic strategies for the management of lymphatic insufficiency in patients with hypoplastic left heart syndrome.

Frontiers in pediatrics
2022

Catheter malposition analysis of totally implantable venous access port in breast cancer patients.

Frontiers in surgery
2022

Case report: Complete resection of invasive thymoma invading the superior vena cava and right atrium under cardiopulmonary bypass support.

Frontiers in oncology
2022

Surgical management of primary mediastinal mature teratoma: A single-center 20 years' experience.

Frontiers in surgery
2022

Anatomical basis of retrograde thoracic veins flow and its implications in complex thoracic wall reconstructive surgery.

Surgical and radiologic anatomy : SRA
2022

Case report of double superior vena cava and double odd vein with hypoplastic left brachiocephalic vein.

The Journal of international medical research
2022

Migration of covered stents in thoracic central vein obstruction procedures in patients with hemodialysis: Case report and literature review.

Frontiers in cardiovascular medicine
2022

The great invasion, a case of lung mass invading the heart through the pulmonary veins.

Radiology case reports
2022

Prenatal Diagnosis and Postnatal Outcomes of Left Brachiocephalic Vein Abnormalities: Systematic Review.

Journal of clinical medicine
2022

New Insights in Central Venous Disorders. The Role of Transvenous Lead Extractions.

Frontiers in cardiovascular medicine
2021

Case Report: Surgical Therapy for Left Innominate Vein Aneurysm Under Thoracoscopy.

Frontiers in surgery
2021

Case Report: Retroaortic Innominate Vein With Supracardiac Total Anomalous Pulmonary Venous Connection.

Frontiers in pediatrics
2021

Neonatal repair of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome: a case report.

Journal of cardiothoracic surgery
2021

Endovascular entry closure of a late type A aortic dissection after implantation of a self-expanding transcatheter heart valve (Evolut R): a case report.

European heart journal. Case reports
2022

Using CT to evaluate mediastinal great vein invasion by thymic epithelial tumors: measurement of the interface between the tumor and neighboring structures.

European radiology
2021

Utility of a modified vascular corrosion casting technique in the diagnosis of fetal total anomalous pulmonary venous connection.

Scientific reports
2021

Contrast examination of central venous access port implanted through internal jugular vein for evaluation of suspected complications.

Japanese journal of radiology
2021

Using the autologous innominate vein as a substitute for pulmonary arteries in a patient with pulmonary atresia and absent pulmonary arteries.

Journal of cardiothoracic surgery
2021

Cerebral venous sinus thrombosis due to external compression of internal jugular vein.

The Journal of international medical research
2021

Trans-catheter closure of a rare cause of pre-tricuspid left-to-right shunt: A "double" levoatriocardinal vein without left heart obstructive lesions.

Journal of cardiology cases
2020

Critical Review of Large Animal Models for Central Deep Venous Thrombosis.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2020

Left superior vena cava: cross-sectional imaging overview.

La Radiologia medica
2019

Congenital systemic venous return anomalies to the right atrium review.

Insights into imaging
2019

Comparison between thoracoscopic and open approaches in thymoma resection.

Journal of thoracic disease
2021

Superdrainage Using the Cephalic Vein Due to Unsuitable Internal Thoracic Vein for Microvascular Anastomosis in Esophageal Reconstruction Using Pedicled Jejunum.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2019

Long-term outcomes of the 'primary extension technique' in the prevention of Steal syndrome.

The journal of vascular access
2019

Totally Endoscopic Robotic-Assisted Cardiac Surgery in Children.

Artificial organs
2018

Hybrid robotic thoracic surgery for excision of large mediastinal masses.

Journal of visualized surgery
2018

Persistent left superior vena cava and absence of innominate vein during coronary artery bypass surgery.

BMJ case reports
2017

Venous stenosis and occlusion in the presence of endocardial leads in patients referred for transvenous lead extraction.

Acta cardiologica
2017

Large thoracic tumour without superior vena cava syndrome.

Folia morphologica
2017

Prenatal diagnoses of an uncommon isolated obstructed supracardiac total anomalous pulmonary venous connection: Case report and review of the literature (CARE compliant).

Medicine
2017

Persistent left superior vena cava accompanying congenital heart disease in children: Experience of a tertiary care center.

Echocardiography (Mount Kisco, N.Y.)
2016

Ultrasound Identification of the Guidewire in the Brachiocephalic Vein for the Prevention of Inadvertent Arterial Catheterization During Internal Jugular Central Venous Catheter Placement.

Anesthesia and analgesia
2016

A Simple Rule for Prenatal Diagnosis of Total Anomalous Pulmonary Venous Return.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2015

Asymptomatic spinal arteriovenous fistula presenting only as continuous murmur.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Intrathymic and other anomalous courses of the left brachiocephalic vein in the fetus.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2015

Ultrasound-guided brachiocephalic vein catheterization in infants weighing less than five kilograms.

The journal of vascular access
2015

Acquired unilateral pulmonary vein atresia in a 3-year-old boy.

Journal of ultrasound

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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. Prenatal ultrasound diagnosis and prognosis of persistent left superior vena cava: a 10-year retrospective cohort study at a single center in China.
    Frontiers in medicine· 2026· PMID 41728604mais citado
  2. Cardiac Transplantation in a Patient With Situs Inversus Totalis and Extracardiac Fontan.
    JACC. Case reports· 2025· PMID 40780784mais citado
  3. A case report of primary mucinous adenocarcinoma of the thymus and review of the literature.
    Journal of surgical case reports· 2025· PMID 40717705mais citado
  4. Atypical Lead Pathway Leading to Vocal Cord Paralysis and Tracheostomy Following Pacemaker Implantation.
    Journal of clinical medicine· 2025· PMID 40648769mais citado
  5. Use of a Reentry Device for Endovascular Recanalization of Central Venous Occlusions Associated With Failing Hemodialysis Access.
    Hemodialysis international. International Symposium on Home Hemodialysis· 2025· PMID 40395037mais citado
  6. Central venoplasty followed by 'double guidewire railroad technique' as a bailout strategy in difficult tunnelled dialysis catheter insertion.
    Nephrology (Carlton)· 2024· PMID 39315516recente
  7. Anatomical basis of retrograde thoracic veins flow and its implications in complex thoracic wall reconstructive surgery.
    Surg Radiol Anat· 2022· PMID 36129523recente
  8. Case report of double superior vena cava and double odd vein with hypoplastic left brachiocephalic vein.
    J Int Med Res· 2022· PMID 36071611recente
  9. Using CT to evaluate mediastinal great vein invasion by thymic epithelial tumors: measurement of the interface between the tumor and neighboring structures.
    Eur Radiol· 2022· PMID 34554302recente
  10. Contrast examination of central venous access port implanted through internal jugular vein for evaluation of suspected complications.
    Jpn J Radiol· 2021· PMID 34021855recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99112(Orphanet)
  2. MONDO:0020443(MONDO)
  3. GARD:19655(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55789382(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

Ausência de veia inominada
Compêndio · Raras BR

Ausência de veia inominada

ORPHA:99112 · MONDO:0020443
CID-10
Q26.8 · Outras malformações congênitas das grandes veias
CID-11
MedGen
UMLS
C4707656
EuropePMC
Wikidata
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