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Aneurisma primário de veia cava superior
ORPHA:652668CID-10 · Q26.8DOENÇA RARA

Derrame pleural é a acumulação excessiva de fluido entre as membranas que envolvem o pulmão. Uma quantidade excessiva deste fluido pode descompensar a ventilação por limitar a expansão dos pulmões (atelectasia).

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Introdução

O que você precisa saber de cara

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Dilatação anormal e isolada da veia cava superior, sem causa secundária aparente. Pode ser assintomático ou causar sintomas compressivos.

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SUS: Cobertura mínimaScore: 20%
Triagem neonatal (Fase 5)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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos8publicações
Pico20152 papers
Linha do tempo
20202015Hoje · 2026
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

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Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

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Genética e causas

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Diagnóstico

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Tratamento e manejo

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Giant coronary sinus aneurysm: an incidental discovery in a case of acute coronary syndrome.

BMJ case reports2024 Mar 13

Coronary sinus (CS) anomalies, although infrequent, are increasingly diagnosed with advances in interventional procedures and imaging techniques. Most cases are asymptomatic and incidentally diagnosed. We present a case of an elderly male without comorbidities who presented with acute angina. Coronary catheterisation revealed a double-vessel disease, but incidentally, sequential angiograms captured contrast filling in the levophase of CS, revealing a giant CS. Primary percutaneous angioplasty of the right coronary artery was performed successfully. Echocardiography confirmed the aneurysm, and a CT scan showed an aneurysmally dilated CS and other coronary veins alongside a normal-sized persistent left superior vena cava draining to the right atrium through CS. CS aneurysms may lead to complications such as thrombosis, embolic events, arrhythmias and heart failure, stressing the importance of vigilant monitoring and timely intervention. This case underscores the significance of recognising CS anomalies in cardiac procedures, even when asymptomatic, for proper management.

#2

Foramen ovale flap aneurysm in fetuses associated with and without heart defects: Prenatal diagnosis, imaging, in-utero hemodynamics, pregnancy, and postnatal outcomes.

Echocardiography (Mount Kisco, N.Y.)2024 Jan

Isolated redundant foramen ovale flap aneurysm (RFOA) in the absence of restrictive foramen ovale is believed to be a cause for pseudocoarctation of aorta since the impediment of blood flow to the left heart can be severe, resembling the picture of left ventricular hypoplasia with retrograde aortic flow. The primary objective of the study is to find whether RFOA is always a benign lesion. The main focus of the study is to share my experience in particular on fetuses having redundant foramen ovale flap aneurysm developing into coarctation of aorta and to study the associated factors. Retrospective study (January 2020 to June 2023). All fetuses with RFOA associated with and without congenital heart defects were included. Fetuses with restrictive foramen ovale and RFOA with single ventricle hearts were excluded. The imaging, in-utero hemodynamics, pregnancy, and postnatal outcomes with at least 3 months follow-up were presented. During the study period, a total of 1499 fetal echocardiography were performed. Twenty-two fetuses with RFOA were included. Fourteen fetuses had isolated RFOA and eight had associated abnormalities [extracardiac (n = 5); intracardiac (n = 2), Both (n = 1)]. Genetic evaluation were performed only in fetuses with associated defects were normal. Postnatally all isolated RFOA fetuses had no aortic arch obstruction. Fetuses with associated aberrant right subclavian artery, isolated left superior vena cava, absent ductus venosus and ventricular septal defects developed aortic arch obstruction after birth. RFOA causes smallish left ventricle in fetuses with tetralogy of Fallot which recovered to normal size postnatally. Isolated RFOA can be benign, however, if it is associated with cardiac or extracardiac anomalies predominantly resulted in aortic arch obstruction. Though it is a cause for pseudocoarctation of aorta, through postnatal reassessment of aortic arch is mandatory. Careful search for intracardiac and systemic venous anomalies is recommended. It created confusion regarding adequacy of left ventricle when associated with congenital heart defects. Several arteries course through the posterior abdominal wall (see Image. Posterior Abdominal Wall Arteries). The aorta passes the aortic hiatus at the T12 level through the diaphragm and descends anterior to the vertebral column. The aorta branches into the right and left common iliac arteries at L4. The aorta gives rise to the inferior phrenic arteries below the aortic hiatus. These vessels supply the diaphragm and also give rise to the suprarenal vessels. The renal arteries arise from the aorta just inferior to the origin of the superior mesenteric artery. The right renal artery is longer and a little inferior to the left renal artery and traverses behind the inferior vena cava (IVC). The left renal artery passes posterior to the left renal vein. Testicular or ovarian arteries descend into the retroperitoneum and run laterally on the psoas major muscle and across the ureter. The testicular artery accompanies the ductus deferens into the scrotum. Here, it provides blood to the epididymis, testis, and spermatic cord. The ovarian artery traverses through the suspensory ligament of the ovary supplies the ovary, and anastomosis with the ovarian branch of the uterine artery. Lumbar arteries consist of 4 or 5 pairs that originate from the back of the aorta. These vessels require ligation when performing aortic aneurysm surgery. They run posterior to the sympathetic trunk, the IVC (on the right side), the quadratus lumborum, and the psoas major muscles. The lumbar vessels give off numerous small anterior branches that accompany the dorsal primary rami of the corresponding spinal nerves and divide into spinal and muscular branches. The middle sacral artery comes off the posterior of the aorta, just above the bifurcation; the vessel then runs down the anterior of the sacrum and ends at the coccygeal body. It supplies the anal canal and rectum and joins the superior and inferior rectal arteries. In the posterior abdominal wall, other important vessels that are not arteries include: IVC is formed by the union of the two common iliac veins just to the right of L5. The bifurcation of the IVC is almost always lower than the bifurcation of the aorta in the pelvis. As it ascends, the IVC remains to the right of the aorta. At the diaphragm, it ascends through the IVC hiatus at T8 and enters the right atrium. Through its course, it receives venous blood from the adrenals, renal veins, right gonads, hepatic veins, and inferior phrenic veins. The cisterna chyli, formed by the lumbar and intestinal lymphatics, lies just posterior and to the right of the aorta. It is usually located between the two crura of the diaphragm and ascends through the aortic hiatus in the diaphragm.  The cisterna chyli is the inferior collecting sac of the thoracic duct, which returns the chyle to the venous system at the left brachiocephalic vein, where the left subclavian and left internal jugular veins converge. The para-aortic lymph nodes can divide into subgroups, including the preaortic, retroaortic, and lateral aortic groups. The preaortic nodes are located next to the origin of the celiac trunk and superior and inferior mesenteric arteries. Surgeons, radiologists, and other health professionals need to be familiar with these vessels as multiple pathologic conditions may develop, resulting in untoward consequences from vessel injury (see Image. Bolus Tracking).

#3

Thoracoscopic approach to the resection of idiopathic azygos vein aneurysm: a case report.

Journal of cardiothoracic surgery2022 Jun 20

Azygos vein aneurysm (AVA) is a rare thoracic pathological entity that mimics a posterior mediastinal mass. However, the pathogenesis of primary azygos vein aneurysms is not clear and its pathology is still being discussed. Some of the AVA are asymptomatic and usually discovered accidentally by routine physical examination. We report the case of a 37-year-old woman who had an azygos vein arch aneurysm with no obvious clinical symptoms. With the analysis of clinical features of the case and AVA morphological characteristics, the AVA was found by a chest computed tomography. Then, enhanced chest computed tomography showed a soft-tissue mass (4.9 × 3.7 × 3.2 cm) in the right posterior mediastinum, which was connected to the superior vena cava and significantly enhanced with contrast agent stratification. The density of the tumor in the delayed stage was the same as that in the azygos vein. The patient underwent video-assisted thoracoscopic surgery. Histopathological evaluation of the surgical biopsy specimen proved to be a completely thrombosed aneurism of the azygos vein arch. AVA is a rare pathology that must be taken into consideration during the differential diagnosis of right posterior mediastinal masses. Thoracoscopic surgery is one of the most preferred treatment options for azygos vein aneurysm.

#4

Retrograde Inferior Vena caval Perfusion for Total Aortic arch Replacement Surgery (RIVP-TARS): study protocol for a multicenter, randomized controlled trial.

Trials2019 Apr 24

During total aortic arch replacement surgery (TARS) for patients with acute type A aortic dissection, the organs in the lower body, such as the viscera and spinal cord, are at risk of ischemia even when antegrade cerebral perfusion (ACP) is performed. Combining ACP with retrograde inferior vena caval perfusion (RIVP) during TARS may improve outcomes by providing the lower body with oxygenated blood. This study is designed as a multicenter, computer-generated, randomized controlled, assessor-blind, parallel-group study with a superiority framework in patients scheduled for TARS. A total of 636 patients will be randomized on a 1:1 basis to a moderate hypothermia circulatory arrest (MHCA) group, which will receive selective ACP with moderate hypothermia during TARS; or to an RIVP group, which will receive the combination of RIVP and selective ACP under moderate hypothermia during TARS. The primary outcome will be a composite of early mortality and major complications, including paraplegia, postoperative renal failure, severe liver dysfunction, and gastrointestinal complications. All patients will be analyzed according to the intention-to-treat protocol. This study aims to assess whether RIVP combined with ACP leads to superior outcomes than ACP alone for patients undergoing TARS under moderate hypothermia. This study seeks to provide high-quality evidence for RIVP to be used in patients with acute type A aortic dissection undergoing TARS. Clinicaltrials.gov, ID: NCT03607786 . Registered on 30 July 2018.

#5

Primary Fusiform Superior Vena Cava Aneurysm.

Cardiology research2017 Aug

Superior vena cava (SVC) aneurysms are rare mediastinal vascular lesions. We report a case of a 42-year-old female, who presented to the outpatient department with features suggestive of lower respiratory tract infection. Chest X-ray showed abnormal contour and widening of right border of mediastinum. Computed tomography (CT) thorax revealed fusiform aneurysmal ectasia of SVC measuring 4.5 × 5.5 × 8.9 cm without internal thrombosis or dissecting flap. Management options include observation with follow-up and in some cases anticoagulation and surgical excision may be considered. The general consensus is that fusiform variety can be managed conservatively in view of the low risk of complications. The saccular aneurysms may need to be managed with anticoagulation therapy or surgically in view of the possible risk for thrombus formation and pulmonary embolism. Since in our case it was an asymptomatic primary fusiform SVC aneurysm, patient was advised for conservative management and follow-up.

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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. Giant coronary sinus aneurysm: an incidental discovery in a case of acute coronary syndrome.
    BMJ case reports· 2024· PMID 38479829mais citado
  2. Foramen ovale flap aneurysm in fetuses associated with and without heart defects: Prenatal diagnosis, imaging, in-utero hemodynamics, pregnancy, and postnatal outcomes.
    Echocardiography (Mount Kisco, N.Y.)· 2024· PMID 38284679mais citado
  3. Thoracoscopic approach to the resection of idiopathic azygos vein aneurysm: a case report.
    Journal of cardiothoracic surgery· 2022· PMID 35725603mais citado
  4. Retrograde Inferior Vena caval Perfusion for Total Aortic arch Replacement Surgery (RIVP-TARS): study protocol for a multicenter, randomized controlled trial.
    Trials· 2019· PMID 31014386mais citado
  5. Primary Fusiform Superior Vena Cava Aneurysm.
    Cardiology research· 2017· PMID 28868105mais citado
  6. Validation of the peripherally inserted central venous catheter insertion length prediction formula using height in children.
    Pediatr Int· 2025· PMID 40444548recente
  7. Prospective Evaluation of Superior Vena Cava Isolation as an Adjunct to Pulmonary Vein Re-Isolation During Paroxysmal Atrial Fibrillation Repeat Procedures.
    J Cardiovasc Electrophysiol· 2025· PMID 40406917recente
  8. Early identification and rapid repositioning of a malpositioned infusion port catheter under real-time ultrasound guidance: A case report.
    Medicine (Baltimore)· 2025· PMID 40258737recente
  9. Evaluation of external and radiological landmark methods for optimizing ultrasound-guided right internal jugular venous catheterization depth in cardiac surgery.
    Sci Rep· 2025· PMID 39789132recente
  10. Transthoracic Echocardiography for Central Venous Catheter Tip Positioning in Children: An Observational Study Using Transesophageal Echocardiography as Reference Method.
    Paediatr Anaesth· 2025· PMID 39754460recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:652668(Orphanet)
  2. MONDO:0958097(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. Artigo Wikipedia(Wikipedia)

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

Aneurisma primário de veia cava superior
Compêndio · Raras BR

Aneurisma primário de veia cava superior

ORPHA:652668 · MONDO:0958097
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
CID-10
Q26.8 · Outras malformações congênitas das grandes veias
MedGen
UMLS
C5925121
Wikipedia
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