Aneurisma intracraniano com formato arredondado característico; a forma mais comum de aneurisma cerebral.
Introdução
O que você precisa saber de cara
Aneurisma intracraniano com formato arredondado característico; a forma mais comum de aneurisma cerebral.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure
Secreted
Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix
Endosome membraneCell junction, focal adhesionMembraneSecreted
Lymphatic malformation 13
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects.
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and est
Cell membrane
Telangiectasia, hereditary hemorrhagic, 1
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis (PubMed:12958365, PubMed:19416857). Initiates BMP, inhibin, and TGF-beta signaling pathways by interacting with different ligands including TGFB1, BMP2, BMP5, BMP7 or GDF5 (PubMed:18184661). Alternatively, acts as a cell surface coreceptor for BMP ligands, serving to enhance ligand binding by differentially regulating BMPR1A/ALK3 and BMPR1B/ALK6 receptor traffic
Cell membraneSecretedSecreted, extracellular space, extracellular matrix
Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12
Secreted, extracellular space, extracellular matrix
Ehlers-Danlos syndrome, vascular type
A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
Variantes genéticas (ClinVar)
2,148 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
34 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 — Aneurisma sacular familiar
Selecione um estado ou use sua localização para ver resultados.
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
Prediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.
Patients with established atherosclerotic cardiovascular disease (ASCVD) are at high risk of developing heart failure (HF). However, incident HF is not part of the risk assessment of current guideline-recommended models. The aim of this study was to develop and externally validate the SMART2-HF model for prediction of incident HF in patients with ASCVD. SMART2-HF was developed in 7698 individuals with established ASCVD (coronary, cerebrovascular, or peripheral artery disease, or abdominal aortic aneurysm) but without prior HF from the UCC-SMART cohort. Cox proportional hazards models including sex-predictor interactions and with age as the time scale were derived to estimate the 10-year and lifetime risk of incident HF (hospitalization for HF or HF-related death), accounting for competing non-HF mortality. Predictors, limited to routinely available clinical characteristics, were aligned with the SMART2 risk model for recurrent cardiovascular risk in the same population. External validation was performed in 240 741 patients with ASCVD from six data sources: the Clinical Practice Research Datalink, the HUNT3 study, the SWEDEHEART Registry, the ASCVD-Particles cohort, the Estonian Biobank and the international REACH Registry. During a median follow-up of 11.2 years (interquartile range 6.1-16.4 years), 1031 incident HF events (13%) occurred in the UCC-SMART cohort. In the external validation data sources, a total of 24 885 incident HF events (10%) occurred. The pooled C-statistic was 0.696 (95% confidence interval 0.674-0.717), with consistent performance in subgroups by sex and type of ASCVD. Predicted risks matched observed incidence in external validation. The SMART2-HF model enables the prediction of incident HF in patients with ASCVD. Aligned with the guideline-recommended SMART2 model for recurrent cardiovascular risk, SMART2-HF can be used as a complementary tool in this population.
Treatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.
Small (<5 mm) intracranial aneurysms present a therapeutic challenge due to their low annual rupture risk and uncertainties regarding procedure-related morbidity. Evidence from Latin America remains limited. We conducted a retrospective multicenter observational study including 1,519 patients treated between 2017 and 2023 in eight referral centers across five Latin American countries. Demographic, clinical, morphological, and treatment-related variables were analyzed. Logistic regression was used to identify independent predictors of treatment-related complications. The overall complication rate was 6%. Surgical treatment showed higher crude complication rates (11%) compared with endovascular therapy (6%), largely reflecting a greater proportion of ruptured aneurysms. Independent predictors of treatment-related complications were a history of aneurysmal subarachnoid hemorrhage (odds ratio [OR] = 5.03), intraparenchymal hematoma before treatment (OR = 3.56), and ruptured aneurysm status (OR = 2.13). Complications were associated with higher mortality (31% vs. 7%; P < 0.001) and worse 1-year outcomes (Modified Rankin Scale 3-6: 41% vs. 12%; P < 0.001). In this first regional multicenter series, treatment of small intracranial aneurysms in Latin America demonstrated low complication rates and favorable safety profiles for both surgical and endovascular techniques. The predictors identified may support clinical decision-making and improve prognostic assessment.
Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.
Shorter leukocyte telomere length (LTL) is an aging biomarker and risk factor for aging-related diseases, including abdominal aortic aneurysm (AAA). This study aimed to identify plasma proteins causally associated with LTL and investigate their roles in linking LTL to AAA. A proteomics analysis was conducted for LTL and a polygenic risk score (PRS) for LTL using 4955 plasma proteins by SomaScan in self-identified White participants (N = 7587-8055) from the Atherosclerosis Risk in Communities (ARIC) study. Replications were evaluated in self-identified Black participants (N = 1668-2094) from ARIC and White participants (N = 2333-2431) from the Cardiovascular Health Study (CHS). Mendelian randomization (MR) analysis assessed causality between LTL and proteins. Survival and mediation analyses explored protein-mediated associations between LTL and AAA risk. In ARIC White participants, 15 unique proteins were identified for LTL or LTL PRS. Three LTL-associated proteins (MZB1, PLOD3, COL28A1) replicated in ARIC Black participants, and six (TNFRSF17, MZB1, CHL1, GDF15, THPO and PLOD3) in CHS White participants. Three proteins associated with LTL PRS (THPO, GP1Bα, PEAR1) replicated in CHS White participants. MR analysis supported causal associations between LTL and five proteins (KDR, TNFRSF17, GDF15, ST3GAL6, CHL1) with all except GDF15 being novel to LTL. LTL was associated with AAA risk (HR = 0.873, 95% CI: 0.803-0.950), with GDF15 mediating 12.4% of this association (p = 0.028). We identified five proteins causally influenced by LTL and highlighted GDF15 as a mediator linking LTL to AAA risk, offering novel insights into aging biology and AAA pathogenesis.
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.
Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV. A genome-wide association study meta-analysis including 9631 cases among 65 677 participants was performed. Genes were prioritized using transcriptomic analyses based on RNA sequencing in relevant tissues, including human fetal and adult aortic valves. The impact of the knockdown or knockout of 4 candidate genes on cardiac development was verified in zebrafish. A polygenic risk score was developed, its association with BAV was evaluated in an independent cohort, and its association with a wide range of phenotypes (n=976) was evaluated in UK Biobank (n=355 618 individuals). Thirty-six genomic loci were identified, including 32 that were not described previously. Among the prioritized genes, KANK2 and ERBB4 were identified as potentially causal through transcriptomic analyses, colocalization, and Mendelian randomization based on gene expression in human aortic valves (n=484), whereas PRDM6 and STRN were prioritized using similar analyses from aortic (n=326) and left ventricular tissues (n=326), respectively. Targeting 4 candidate genes (WNT4, LEF1, STRN, and KANK2) in zebrafish led to disruption in cardiac development. A polygenic risk score was associated with an odds ratio of 2.07 (95% CI, 1.90-2.25; P=5.43×10-62) per SD for BAV and significantly associated with thoracic aortic aneurysm and atrial fibrillation in UK Biobank. This study supports a significant polygenic contribution to BAV, where the combination of multiple common variants in genes involved in heart morphogenesis disrupts aortic valve development.
CD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.
Abdominal aortic aneurysm (AAA) progression is closely linked to inflammation and endothelial dysfunction. Our previous study has demonstrated that increased CD95 ligand (CD95L) and its downstream effector Caspase-8 in the aortic tissue, contributed to AAA by modulating inflammation. However, how the CD95L/Caspase-8 modulated aneurysmal inflammation remains poorly understood. This study investigates how CD95L/Caspase-8 signaling drives endothelial pyroptosis to exacerbate AAA. Using a CaCl2-induced AAA murine model and primary mouse aortic endothelial cells (MAECs), we demonstrate that CD95L triggers endothelial pyroptosis, characterized by NLRP3 inflammasome activation, Gasdermin D N-terminal (GSDMD-N) cleavage, and Caspase-8/Caspase 1 activation. Electron microscopy confirmed pyroptotic morphology, while flow cytometry excluded apoptosis or necrosis. CD95L elevated IL-1β/IL-18 secretion, which was abolished by Caspase-8 siRNA or inhibitor Z-IETD-FMK. Mechanistically, CD95L suppressed Caspase-8 phosphorylation at Tyr380, enabling its activation of GSDMD-dependent pyroptosis. In vivo, CaCl2-induced AAA mice exhibited aortic dilation, elastin degradation, and endothelial-specific pyroptosis, all attenuated by endothelial-targeted Caspase-8 knockdown via AAV9-shRNA. This intervention reduced NLRP3 and GSDMD-N expression while preserving vascular integrity. Similarly, SRC kinase activation mitigated pyroptosis markers and aortic damage. These findings establish CD95L as a key mediator of endothelial pyroptosis in AAA via Caspase-8 dephosphorylation and NLRP3/GSDMD-N activation. Targeting Caspase-8 or enhancing SRC activity represents a promising therapeutic strategy to curb AAA progression by preserving endothelial homeostasis.
Publicações recentes
Men's Preferences for Exiting Abdominal Aortic Aneurysm Surveillance: A Deliberative Engagement Session Study.
Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.
Insight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.
Coexistence of Intracranial Aneurysm and Pituitary Adenoma: A Case Report and Literature Review.
MILITARY-SPECIFIC MANAGEMENT OF ACTIVE DUTY PATIENTS WITH ANEURYSM OR DILATION OF THE ASCENDING AORTA.
📚 EuropePMCmostrando 198
Effect of the Proximal Landing Zone Quality on TEVAR Outcomes-11-Year Real-World Experience with the Relay Stent Graft Family in Aortic Dissections.
Journal of endovascular therapy : an official journal of the International Society of Endovascular SpecialistsMen's Preferences for Exiting Abdominal Aortic Aneurysm Surveillance: A Deliberative Engagement Session Study.
Patient preference and adherenceExtreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.
JACC. Case reportsInsight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.
JACC. Case reportsCoexistence of Intracranial Aneurysm and Pituitary Adenoma: A Case Report and Literature Review.
CureusMILITARY-SPECIFIC MANAGEMENT OF ACTIVE DUTY PATIENTS WITH ANEURYSM OR DILATION OF THE ASCENDING AORTA.
The Annals of thoracic surgeryNovel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling.
Case reports in geneticsPrediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.
European heart journalDeveloping and Assessing the Acceptability of an Information Booklet for Patients in Surveillance for Abdominal Aortic Aneurysms: An Intervention Development Study.
Health expectations : an international journal of public participation in health care and health policyThe morphological characteristics and risk of rupture of ruptured and unruptured internal carotid siphon aneurysms: a preliminary study.
Neurological researchIncremental value of implantable loop recorders in arrhythmia detection and management in cardiomyopathies: Prospective study.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyThoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
Annals of vascular diseasesTreatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.
Surgical neurology internationalKawasaki Disease and the Importance of Family History.
JACC. Case reportsDouble Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.
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Annals of pediatric cardiologyDid the COVID-19 pandemic change the Kawasaki disease phenotype? Observations from the International Kawasaki Disease Registry.
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Journal of the American Board of Family Medicine : JABFMA Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report.
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Journal of cellular and molecular medicineCowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.
Indian journal of thoracic and cardiovascular surgeryFamilial History of Aortic Disease Does Not Affect Outcomes of Fenestrated-Branched Endovascular Aortic Repair in Patients With Complex Aortic Aneurysms.
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bioRxiv : the preprint server for biologyA case report: Acute presentation of chronic aortic dissection.
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DEN openCD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.
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Journal of the American Board of Family Medicine : JABFMFamily-Wide Dysregulation of Phosphodiesterases Alters cAMP/cGMP Microdomains in Thoracic Aortic Aneurysm.
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Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAssessing Discharge Readiness and Influencing Factors Among Patients with Aortic Dissection: A Cross-Sectional Study.
The American journal of nursingWoven EndoBridge intrasaccular therapy for the treatment of unruptured wide-necked bifurcation aneurysms: a prospective study in a Chinese population.
Chinese neurosurgical journalHypertensive Emergency Presenting With Isolated Cranial Nerve III Palsy and Subsequent Intracranial Hemorrhage.
CureusMissed Kawasaki Disease With Coronary Aneurysms and Familial Hyperlipidemia: A Case Report.
Clinical case reportsEvaluation of Dutch General Practitioners ultrasound referrals and opportunities for point-of-care ultrasound: A retrospective analysis.
The European journal of general practiceMAPK14 converges on key transcriptional machinery to promote vascular smooth muscle cell degeneration in abdominal aortic aneurysm.
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Advances in experimental medicine and biologyCervical Artery Dissection Recurrence in an Unselected Danish Cohort.
Cerebrovascular diseases extraOlfr2 Promotes Recruitment of Monocytes via CX3CR1 in Abdominal Aortic Aneurysm.
Circulation researchA Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene.
International journal of molecular sciencesClinical Factors Associated With Intracranial Aneurysms in Patients With Autosomal Dominant Polycystic Kidney Disease.
CureusIsolated Neck Pain as an Atypical Manifestation of Type A Acute Aortic Dissection: A Case Report.
The American journal of case reportsAbdominal aortic aneurysm (AAA) screening and the Irish context.
The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and IrelandSystemic inflammation, polygenic risk score, and risk of incident abdominal aortic aneurysm in the UK biobank.
BMC public healthGenetic Testing Following Type A Thoracic Aortic Dissection - The Good, the Bad and the Ugly.
British journal of hospital medicine (London, England : 2005)Mixed-effects additive Bayesian networks for the assessment of ruptured intracranial aneurysms: Insights from multicenter data.
Computers in biology and medicineSex difference in predictors of aneurysmal wall enhancement: a cross-sectional and prospective cohort study.
NeuroradiologyInfectious Aortitis Presenting as Constipation: A Diagnostic Pitfall.
CureusLetter regarding "Increased risk for thoracic aneurysms in female and familial abdominal aortic aneurysm patients".
Journal of vascular surgeryBicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.
medRxiv : the preprint server for health sciencesRight Coronary Artery to Coronary Sinus Fistula: A Rare Problem With an Elegant Solution.
JACC. Case reportsClinical Features and Post-Coiling Outcomes of Symptomatic Internal Carotid Artery-Posterior Communicating Artery Aneurysms: A Case Series and Literature Review.
Asian journal of neurosurgery[Aneurysms and arterial dissections : when to suspect an underlying complex vascular disorder ?].
Revue medicale suissePrenatal ultrasound diagnosis of isolated pseudoaneurysm of the fetal iliac artery: a case report.
BMC pregnancy and childbirthGlobal Profiling of the Proteome and Acetylome in Mice with Abdominal Aortic Aneurysms.
ACS omegaSex Disparity, Functional Risks, and the Endovascular Aneurysm Repair Paradox after Abdominal Aortic Aneurysm Repair.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryCardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8.
JACC. Case reportsA large French family with TGFBR2 pathogenic variant: illustration of variability.
Orphanet journal of rare diseasesBeyond the Neck: Access Profiles Drive Sex Disparities in Endovascular Aneurysm Repair Eligibility.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgerySpontaneous resolution of traumatic pseudoaneurysm: A case report.
MedicinePicket-Fence Technique in Surgical Treatment of Cerebral Aneurysms and Role of Intraoperative Videoangiography in Aneurysm Surgery.
Medicina (Kaunas, Lithuania)Patient Characteristics and Outcomes of Cardiac Rehabilitation Following Thoracic Aortic Dissection Surgery: A MULTICENTER RETROSPECTIVE STUDY.
Journal of cardiopulmonary rehabilitation and preventionTargeted abdominal aortic aneurysm screening: a retrospective review of a high-volume Irish tertiary vascular centre.
Irish journal of medical scienceThe role of ANGPTL8 in metabolism and cardiovascular diseases: Consensus and controversy.
AtherosclerosisClinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.
Advances in experimental medicine and biologyMolecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom.
Cureus[Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement].
Kyobu geka. The Japanese journal of thoracic surgery[Thoracic Endovascular Aortic Repair for Intra-aortic Thrombosis in the Distal Arch].
Kyobu geka. The Japanese journal of thoracic surgeryDramatic Coronary Artery Aneurysm Regression After Coronary Artery Bypass Grafting and Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitor Therapy.
Interdisciplinary cardiovascular and thoracic surgeryTransforming growth factor-beta (TGF-β) in the pathogenesis of hereditary thoracic aneurysm disorders.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyLocal Anesthesia Is Associated With Lower Mortality After Endovascular Repair of Ruptured Abdominal Aortic Aneurysm.
The American surgeonSLAMF1 as a Risk Biomarker for Nontraumatic SAH: Evidence From a Multiomics Study.
StrokeT-cadherin deprivation in endothelial cells promotes vascular injury in Kawasaki disease through SOD2/ROS/NLRP3 pathway-mediated pyroptosis.
Journal of molecular cell biologyA machine learning predictive model for acute kidney injury among aneurysmal subarachnoid hemorrhage patients.
BMC medical informatics and decision makingRare oculomotor nerve palsy after interventional treatment of anterior communicating artery aneurysm: A case report.
MedicineSyphilitic Cardiac and Vascular Disease: A Comprehensive Review.
Cardiology in reviewMRI of the 'Tiger': a case series.
European heart journal. Case reportsSuccessful Endovascular Repair of a Thoracic Infected Aortic Aneurysm with Concomitant Liver Abscess: A Case Report.
The American journal of case reportsGuideline-based screening for abdominal aortic aneurysms is significantly underperformed and possibly impacted by medical comorbidities.
Journal of vascular surgeryThoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report.
Frontiers in geneticsLate presentation and diagnosis of concomitant ruptured sinus of valsalva and congenital gerbode defect in an elderly gentleman.
Journal of cardiothoracic surgeryUndisclosed Abdominal Aortic Aneurysm as a Risk Factor for Hemorrhage in Tenecteplase Stroke Thrombolysis: A Case Report.
The American journal of case reportsRisk factors for thoracic aortic aneurysm and dissection among diabetic patients: a nationwide population-based study.
Frontiers in cardiovascular medicinePolyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.
Virchows Archiv : an international journal of pathologyPsychiatric sequelae following aneurysmal subarachnoid hemorrhage: Insights from a high-volume neurosurgical center in northern China.
World journal of psychiatryAdvances in screening and management of unruptured intracranial aneurysms.
The Lancet. NeurologyEpidemiology, pathogenesis, and emerging concepts in unruptured intracranial aneurysms.
The Lancet. NeurologyChronological and Biological Age in Predicting Outcomes of Older Patients in Neurosurgery.
Neurologia medico-chirurgicaNovel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.
Molecular syndromologyCDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
The Journal of clinical investigationA Rare Heterozygous MYH11 Missense Variant in a Patient With Recurrent Strokes, Intracerebral Arterial Pathology, and Aortic Aneurysm.
CureusPostoperative rupture of an artery dissected from a cerebral aneurysm dome following clipping: A rare and fatal complication.
Journal of cerebrovascular and endovascular neurosurgerySudden death due to aortic dissection: autopsy study (2011-2023).
Journal of forensic and legal medicineZinc finger GATA-like protein 1 regulates apoptosis and phenotypic transformation via protein kinase B pathway in human vascular smooth muscle cells.
NeuroreportA genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.
Ophthalmic geneticsDysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated aortopathy.
American journal of physiology. Heart and circulatory physiologyPrediction of Recurrence and Rupture Risk of Ruptured and Unruptured Intracranial Aneurysms of the Posterior Circulation: A Machine Learning-Based Analysis.
Diagnostics (Basel, Switzerland)Intra-hospital MRI transport in neurocritical patients with aneurysmal subarachnoid hemorrhage: complications and clinical impact with predominant continuation of care.
Neurosurgical reviewMIF Promotes Phenotypic Switching of VSMCs via AKT/mTOR-Mediated Autophagy Regulation in Aortic Dissection.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyRuptured Aortic Arch Aneurysm Without Surgical Intervention Resulting in 11-Day Survival in a Woman: An Autopsy-Proven Aortoesophageal Fistula.
CureusBempedoic acid attenuates vascular inflammation and oxidative stress in a preclinical model of abdominal aortic aneurysm.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de ArteriosclerosisRisk factors for abdominal aortic aneurysm in general populations: A systematic review and meta-analysis.
PloS oneThe Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.
Medical sciences (Basel, Switzerland)Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.
QJM : monthly journal of the Association of PhysiciansA comparison of women and men with small abdominal aortic aneurysms.
The British journal of surgeryGlucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.
Prague medical reportMacrophage-derived KIF13B interacts with USP9X to attenuate abdominal aortic aneurysm development by potentiating TFEB stability.
TheranosticsIsolated Congenital Membranous Interventricular Septal Aneurysm: A Rare Incidental Finding.
CureusPolyester Versus Expanded Polytetrafluorethylene Endografts: Underexplored Risks and Limitations in Contemporary Aneurysm Repair.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryImpact of Preexisting Intracranial Aneurysm on Incidence and Risk of de novo Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease: An Observational Study.
American journal of nephrologyPatient Needs Regarding Cardiac Rehabilitation: A Systematic Review and Meta-Ethnographic Synthesis.
Journal of the American Heart AssociationEpigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.
Molecular systems biology[Vascular Ehlers-Danlos syndrome discovered after splenic aneurysm rupture: a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology[Abdominal aortic aneurysm prevalence study in Primary Care].
Atencion primariaTranscriptomic Analysis Exploring the Role of Aquaporins in the Pathogenesis of Thoracic Aortic Aneurysm.
The Annals of thoracic surgeryExiting Surveillance From Abdominal Aortic Aneurysm Screening: The Views of Clinicians, and Men in Surveillance and Their Family Members.
Health expectations : an international journal of public participation in health care and health policyLoss of Myh11 K1256 Dysregulates the Extracellular Matrix and Focal Adhesion by Inhibiting Zyxin-Activated Transcription.
International journal of molecular sciencesA unique case of prenatal diagnosis of vascular Ehlers-Danlos syndrome.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsPulsating Evidence: Clinical Visualization of an Abdominal Aortic Aneurysm.
CureusGenistein ameliorates thoracic aortic dissection by inhibiting CB1 receptor hyperactivation and modulating its-mediated cAMP-PKA signaling.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAscending Aortic Dimensions and Body Size: Allometric Scaling, Normative Values, and Prognostic Performance.
JACC. Cardiovascular imagingEffect of Oral Administration of Colchicine on Progression of Aortic Aneurysm in Mice.
Circulation journal : official journal of the Japanese Circulation SocietyFatal rupture of a giant left coronary artery aneurysm in an infant with Kawasaki disease. A case report with systematic literature review.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyVertebral Artery Dissection Following High Velocity Low Amplitude Cervical Manipulation: A Case Report.
CureusALOX5 regulates vascular smooth muscle cells pyroptosis to affect abdominal aortic aneurysm formation.
Scientific reportsValve-sparing aortic root and partial aortic arch replacement with reimplantation of the brachiocephalic trunk for chronic type ІA aortic dissection.
Multimedia manual of cardiothoracic surgery : MMCTSExposing Methodological Gaps in Machine Learning Models for Abdominal Aortic Aneurysm Rupture Prediction.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryInverse finite element identification of murine aortic material properties: in vivo and ex vivo comparisons.
Computer methods in biomechanics and biomedical engineeringThe effect of puerarin on the NLRP3 Inflammasome pathway and MMP-9 in aortic dissection of ApoE-/- mice.
International immunopharmacologySuccessful treatment for distal-arch aortic aneurysm in a cold agglutinin-positive patient via physician-modified thoracic endovascular aortic repair: a case report.
General thoracic and cardiovascular surgery casesUntargeted metabolomics-based elucidation of metabolic reprogramming mechanisms and pathways following aortic dissection surgery.
European journal of medical researchKawasaki disease with persistent severe psoriatic-like skin manifestations and sudden cardiac death.
International journal of cardiology. Congenital heart diseaseThe predictive role of family history of antipsychotic drug use in poor outcomes following aneurysmal subarachnoid hemorrhage (aSAH).
Brain & spineThe Modified Frailty Index-11 is a Poor Predictor of 1-Year Mortality and Morbidity After Ruptured Abdominal Aortic Aneurysm Repair.
Annals of vascular surgeryMinimum Core Data Elements for Evaluation of Thoracic Aortic Disease.
JACC. AdvancesLong-Term Risk of Recurrent Cervical Artery Dissection and Stroke After Pregnancy.
JAMA network openThe epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk loci.
bioRxiv : the preprint server for biologyAXL in cardiovascular diseases: Pathophysiological insights and clinical perspectives.
Pathology, research and practiceLoeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.
Practical neurologyA Case of Unruptured Basilar-Superior Cerebellar Artery Aneurysm Successfully Treated with Preoperative 3D Silicone Model Simulation for Optimal Woven EndoBridge Device Implantation.
Journal of neuroendovascular therapyCase Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.
Frontiers in cardiovascular medicineDifferences in gut microbiome between autosomal dominant polycystic kidney disease with and without intracranial aneurysms.
Scientific reportsMultiple coronary artery aneurysms in a young patient with Kawasaki disease and heterozygous familial hypercholesterolemia: A case study.
Journal of clinical lipidologyWhat Help do Patients in Abdominal Aortic Aneurysm Surveillance Want to Manage Anxiety? A Qualitative Interview Study.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryPediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.
Orphanet journal of rare diseasesSerial changes and optimal imaging windows in vessel wall MRI for unruptured intracranial artery dissection.
Scientific reportsIntegrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.
Scientific reportsGiant ascending aortic aneurysm in a 6-year-old boy with LOX gene mutation associated with familial thoracic aortic aneurysm type 10.
European heart journalA Rare Case of Paired Congenital Cervical Aneurysms in a Communicating Vein: Clinical and Imaging Findings in a Pediatric Patient.
Pathophysiology : the official journal of the International Society for Pathophysiology[Clinical and genetic analysis of a patient with Loeys-Dietz syndrome caused by a SMAD3 gene variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCharacterization of Arterial Aneurysms in Loeys-Dietz Syndrome.
Journal of the American College of CardiologyTransient Cortical Blindness: A Rare Sequelae Following Endovascular Embolization of a Basilar Tip Aneurysm.
CureusGiant Pulmonary Artery Aneurysm in a Young Male Patient.
Annals of thoracic surgery short reportsFactors Affecting the Analysis of the Outcomes of Elective Endovascular Popliteal Artery Aneurysm Repair.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryCracking the Kinase Code: Urinary Biomarkers as Early Alarms for AAA Rupture-A Pilot Study.
Journal of clinical medicineRoot Remodeling versus Root Reimplantation in Patients with Bicuspid Aortic Valve and Root Aneurysm.
Aorta (Stamford, Conn.)Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.
CellsUtility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsGenome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.
medRxiv : the preprint server for health sciencesSurgical treatment for symptomatic pure arterial malformations: a single-center experience.
Neurosurgical reviewMiddle cerebral artery aneurysms in older women with autosomal dominant polycystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationThe Curated Treatment of a Young Woman With Marfan Syndrome: Elective Open Ascending Repair to Emergent Thoracoabdominal Endovascular Repair.
Journal of endovascular therapy : an official journal of the International Society of Endovascular SpecialistsDistinct Gut Microbiota Profiles in Unruptured and Ruptured Intracranial Aneurysms: Focus on Butyrate-Producing Bacteria.
Journal of clinical medicineUnravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.
GenesThe Role of Cardiac Magnetic Resonance Imaging in the Management of Hypertrophic Cardiomyopathy.
Journal of cardiovascular development and diseaseThoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
Circulation. Genomic and precision medicineFamilial Thoracic Aortic Aneurysm and Dissection: Simultaneous Presentation in Two Brothers.
CureusA retrospective review of safety and efficacy of the selectFlex neurovascular access catheters.
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciencesBehind the Smoke: A Bladder Cancer Case Report Through the Eyes of Primary Care.
CureusUncovering a Windsock Aneurysm of the Interventricular Septum: An Incidental Structural Abnormality.
Methodist DeBakey cardiovascular journalDamage-associated molecular patterns (DAMPs) in vascular diseases.
The Journal of biological chemistryUtility and Limitations of Genetic Testing in the Routine Care of Cardiovascular Disease Patients in a General Hospital.
International heart journalMicroRNA-325 ameliorates angiotensin II-induced abdominal aortic aneurysm by inhibiting the endothelial-to-mesenchymal transition through regulation of the MAPK/SNAI1/MMP-2 pathway.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieNovel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.
Circulation researchSystemic Arterial Aneurysms in Kawasaki Disease: An Important Evidence Gap.
Pediatric cardiologyAortoenteric Fistulas Following Endovascular Aortic Aneurysm Repair: A Review.
Vascular and endovascular surgeryCase Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome.
Frontiers in cardiovascular medicineIntracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management.
Mayo Clinic proceedingsComparison of coiling followed by staged-flow diversion and flow diversion-assisted coiling for intracranial very large and giant aneurysms of the internal carotid artery.
Neurosurgical reviewMacrophage Lyn Kinase Is a Sex-Specific Regulator of Post-Subarachnoid Hemorrhage Neuroinflammation.
Journal of the American Heart AssociationMitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development.
CellsSpectrum of Coronary Artery Involvement With Multisystem Inflammatory Syndrome in Children Versus Kawasaki Disease.
Journal of the American Heart AssociationAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Prediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.
- Treatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.
- Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.
- Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.
- CD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.
- Men's Preferences for Exiting Abdominal Aortic Aneurysm Surveillance: A Deliberative Engagement Session Study.
- Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.
- Insight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.
- Coexistence of Intracranial Aneurysm and Pituitary Adenoma: A Case Report and Literature Review.
- MILITARY-SPECIFIC MANAGEMENT OF ACTIVE DUTY PATIENTS WITH ANEURYSM OR DILATION OF THE ASCENDING AORTA.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:231160(Orphanet)
- MONDO:0016483(MONDO)
- GARD:17161(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q6058359(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
