Raras
Buscar doenças, sintomas, genes...
Aneurisma sacular familiar
ORPHA:231160CID-10 · I67.1CID-11 · 8B22.6DOENÇA RARA

Aneurisma intracraniano com formato arredondado característico; a forma mais comum de aneurisma cerebral.

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Introdução

O que você precisa saber de cara

📋

Aneurisma intracraniano com formato arredondado característico; a forma mais comum de aneurisma cerebral.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 5%
Triagem neonatal (Fase 5)CID-10: I67.1
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
6 sintomas
❤️
Coração
2 sintomas
👁️
Olhos
1 sintomas
🦴
Ossos e articulações
1 sintomas
💪
Músculos
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Aneurisma sacular cerebral
55%prev.
Morfologia anormal do tronco cerebral
Frequente (79-30%)
55%prev.
Anormalidade do polígono de Willis
Frequente (79-30%)
55%prev.
Hipertensão
Frequente (79-30%)
55%prev.
Defeito do campo visual
Frequente (79-30%)
55%prev.
Hemiparesia
Frequente (79-30%)
19sintomas
Muito frequente (1)
Frequente (8)
Ocasional (6)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 características clínicas mais associadas, ordenadas por frequência.

Aneurisma sacular cerebralCerebral berry aneurysm
Muito frequente100%
Morfologia anormal do tronco cerebralAbnormal brainstem morphology
Frequente (79-30%)55%
Anormalidade do polígono de WillisAbnormality of circle of Willis
Frequente (79-30%)55%
HipertensãoHypertension
Frequente (79-30%)55%
Defeito do campo visualVisual field defect
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025135 papers
Linha do tempo
2026Hoje · 2026🧪 2016Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
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.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

ANGPTL6Angiopoietin-related protein 6Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Secreted

INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (1)
intracranial berry aneurysm
HGNC:23140UniProt:Q8NI99
THSD1Thrombospondin type-1 domain-containing protein 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix

LOCALIZAÇÃO

Endosome membraneCell junction, focal adhesionMembraneSecreted

VIAS BIOLÓGICAS (1)
O-glycosylation of TSR domain-containing proteins
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
20.0 TPM
Tecido adiposo
16.3 TPM
Nervo tibial
15.1 TPM
Mama
14.4 TPM
Fallopian Tube
13.7 TPM
OUTRAS DOENÇAS (4)
lymphatic malformation 13aneurysm, intracranial berry, 12intracranial berry aneurysmnon-immune hydrops fetalis
HGNC:17754UniProt:Q9NS62
ENGEndoglinMajor susceptibility factor inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
476.7 TPM
Pulmão
392.6 TPM
Ovário
380.3 TPM
Artéria coronária
376.9 TPM
Coração - Átrio
355.2 TPM
OUTRAS DOENÇAS (5)
telangiectasia, hereditary hemorrhagic, type 1generalized juvenile polyposis/juvenile polyposis colihereditary hemorrhagic telangiectasiaintracranial berry aneurysm
HGNC:3349UniProt:P17813
TGFBR3Transforming growth factor beta receptor type 3Candidate gene tested inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneSecretedSecreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (2)
TGFBR3 PTM regulationTGFBR3 expression
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
113.0 TPM
Tecido adiposo
92.9 TPM
Cervix Ectocervix
86.8 TPM
Fallopian Tube
86.4 TPM
Cervix Endocervix
82.8 TPM
OUTRAS DOENÇAS (1)
intracranial berry aneurysm
HGNC:11774UniProt:Q03167
COL3A1Collagen alpha-1(III) chainCandidate gene tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (10)
Integrin cell surface interactionsMET activates PTK2 signalingDevelopmental Lineage of Pancreatic Ductal CellsAssembly of collagen fibrils and other multimeric structuresSignaling by PDGF
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (6)
polymicrogyria with or without vascular-type Ehlers-Danlos syndromeautosomal dominant Ehlers-Danlos syndrome, vascular typeintracranial berry aneurysmfamilial abdominal aortic aneurysm
HGNC:2201UniProt:P02461

Variantes genéticas (ClinVar)

2,148 variantes patogênicas registradas no ClinVar.

🧬 COL3A1: NM_000090.4(COL3A1):c.528+2T>G ()
🧬 COL3A1: NM_000090.4(COL3A1):c.833del (p.Thr278fs) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2591G>T (p.Gly864Val) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2420G>A (p.Gly807Glu) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2050G>A (p.Gly684Arg) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
1Fase 11
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

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

Pesquisa e ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Prediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.

European heart journal2026 Mar 11

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.

#2

Treatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.

Surgical neurology international2026

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.

#3

Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.

Journal of cellular and molecular medicine2026 Feb

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.

#4

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.

Circulation2026 Feb 06

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.

#5

CD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.

Apoptosis : an international journal on programmed cell death2026 Feb 02

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

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

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 Specialists
2026

Men's Preferences for Exiting Abdominal Aortic Aneurysm Surveillance: A Deliberative Engagement Session Study.

Patient preference and adherence
2026

Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.

JACC. Case reports
2026

Insight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.

JACC. Case reports
2026

Coexistence of Intracranial Aneurysm and Pituitary Adenoma: A Case Report and Literature Review.

Cureus
2026

MILITARY-SPECIFIC MANAGEMENT OF ACTIVE DUTY PATIENTS WITH ANEURYSM OR DILATION OF THE ASCENDING AORTA.

The Annals of thoracic surgery
2026

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling.

Case reports in genetics
2026

Prediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.

European heart journal
2026

Developing 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 policy
2026

The morphological characteristics and risk of rupture of ruptured and unruptured internal carotid siphon aneurysms: a preliminary study.

Neurological research
2026

Incremental 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 Cardiology
2026

Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.

Annals of vascular diseases
2026

Treatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.

Surgical neurology international
2026

Kawasaki Disease and the Importance of Family History.

JACC. Case reports
2026

Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.

Internal medicine (Tokyo, Japan)
2025

Giant ascending aortic aneurysm in a 2-year-old child with Kabuki syndrome: A rare cardiovascular pathology and successful surgical repair.

Annals of pediatric cardiology
2026

Did the COVID-19 pandemic change the Kawasaki disease phenotype? Observations from the International Kawasaki Disease Registry.

Pediatric cardiology
2026

Machine learning models for predicting delayed cerebral ischemia following ruptured intracranial aneurysms: A systematic review and meta-analysis.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2026

Validation of Family Medicine Point-of-Care Ultrasound Screening (POCUS) for Abdominal Aortic Aneurysm.

Journal of the American Board of Family Medicine : JABFM
2026

A Familial Thoracic Aortic and Arterial Aneurysm Syndrome Associated With FBN2 (Y1311C) and MYH11 (R34T) Variants: A Multigenerational Case Report.

Cureus
2026

Aortic Root Dilation in a Masters Dressage Athlete With Familial TAAD.

JACC. Case reports
2026

STF083010 Mitigates Thoracic Aortic Dissection by Modulating the NLRP3 Inflammasome-Dependent Pyroptosis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.

Journal of cellular and molecular medicine
2026

Cowden syndrome presenting with ascending aortic aneurysm: echocardiogram and computed tomography angiography findings.

Indian journal of thoracic and cardiovascular surgery
2026

Familial History of Aortic Disease Does Not Affect Outcomes of Fenestrated-Branched Endovascular Aortic Repair in Patients With Complex Aortic Aneurysms.

Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists
2026

Familial clustering of ventricular septal aneurysm.

JTCVS techniques
2026

Epigenetic Programming of Macrophage Phenotypes by STING-IRF3 Drives Inflammation in Ascending Thoracic Aortic Dissection.

bioRxiv : the preprint server for biology
2026

A case report: Acute presentation of chronic aortic dissection.

Radiology case reports
2026

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.

Circulation
2026

A novel ACTA2 variant in sudden fatal familial thoracic aortic dissection: literature review and genotype-phenotype expansion.

Legal medicine (Tokyo, Japan)
2026

Leveraging in-silico deep learning and computational analyses to predict the pathogenicity of ROBO4 variants of uncertain significance in aortic aneurysm and dissection patients.

BMC cardiovascular disorders
2026

Diagnosis and management of heritable thoracic aortic diseases.

Heart (British Cardiac Society)
2026

Familial Ascending Aortic Aneurysm in a Child With a Pathologic Variant of the Lysyl Oxidase Gene.

World journal for pediatric &amp; congenital heart surgery
2026

Intraoperative brain relaxation as a therapeutic target and proposal of a new definition.

Brain &amp; spine
2026

Intractable Delayed Bleeding After Endoscopic Submucosal Dissection for Early Gastric Cancer in Patients With Chronic Disseminated Intravascular Coagulation Caused by Aortic Aneurysm.

DEN open
2026

CD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.

Apoptosis : an international journal on programmed cell death
2026

Unprovoked Cerebral Venous Infarction Presenting as Audio-Visual Hallucinations: A Case Presentation.

Acta neurologica Taiwanica
2025

Beyond the Stethoscope: Point-of-Care Ultrasound (POCUS) as the New Norm in Family Medicine.

Journal of the American Board of Family Medicine : JABFM
2026

Family-Wide Dysregulation of Phosphodiesterases Alters cAMP/cGMP Microdomains in Thoracic Aortic Aneurysm.

Journal of cardiovascular development and disease
2026

Acute pulmonary hypertension induced by heparin-protamine complex during thoracoabdominal aortic grafting.

Journal of cardiothoracic surgery
2026

Trends in Intervention Modality for Hospitalizations with Infectious Intracranial Aneurysms: A Nationwide Analysis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2026

Assessing Discharge Readiness and Influencing Factors Among Patients with Aortic Dissection: A Cross-Sectional Study.

The American journal of nursing
2026

Woven EndoBridge intrasaccular therapy for the treatment of unruptured wide-necked bifurcation aneurysms: a prospective study in a Chinese population.

Chinese neurosurgical journal
2025

Hypertensive Emergency Presenting With Isolated Cranial Nerve III Palsy and Subsequent Intracranial Hemorrhage.

Cureus
2026

Missed Kawasaki Disease With Coronary Aneurysms and Familial Hyperlipidemia: A Case Report.

Clinical case reports
2026

Evaluation of Dutch General Practitioners ultrasound referrals and opportunities for point-of-care ultrasound: A retrospective analysis.

The European journal of general practice
2026

MAPK14 converges on key transcriptional machinery to promote vascular smooth muscle cell degeneration in abdominal aortic aneurysm.

Signal transduction and targeted therapy
2026

The "contrast agent separation" sign in a patient on veno-arterial extracorporeal membrane oxygenation undergoing computed tomography scan angiography: A case report.

Medicine
2025

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Diagnostics (Basel, Switzerland)
2025

Management of Myosin Heavy Chain 11-Associated Familial Thoracic Aortic Aneurysm and Dissection During Pregnancy in Two Siblings.

Aorta (Stamford, Conn.)
2026

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm.

Cardiovascular research
2026

A novel approach to thoracic endovascular aortic repair using "zone 1.5" deployment of the Gore thoracic branched endoprosthesis device.

Journal of vascular surgery cases and innovative techniques
2026

Clinical, Molecular and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Advances in experimental medicine and biology
2026

Cervical Artery Dissection Recurrence in an Unselected Danish Cohort.

Cerebrovascular diseases extra
2026

Olfr2 Promotes Recruitment of Monocytes via CX3CR1 in Abdominal Aortic Aneurysm.

Circulation research
2025

A Family with Meester-Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene.

International journal of molecular sciences
2025

Clinical Factors Associated With Intracranial Aneurysms in Patients With Autosomal Dominant Polycystic Kidney Disease.

Cureus
2025

Isolated Neck Pain as an Atypical Manifestation of Type A Acute Aortic Dissection: A Case Report.

The American journal of case reports
2025

Abdominal aortic aneurysm (AAA) screening and the Irish context.

The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
2025

Systemic inflammation, polygenic risk score, and risk of incident abdominal aortic aneurysm in the UK biobank.

BMC public health
2025

Genetic Testing Following Type A Thoracic Aortic Dissection - The Good, the Bad and the Ugly.

British journal of hospital medicine (London, England : 2005)
2026

Mixed-effects additive Bayesian networks for the assessment of ruptured intracranial aneurysms: Insights from multicenter data.

Computers in biology and medicine
2026

Sex difference in predictors of aneurysmal wall enhancement: a cross-sectional and prospective cohort study.

Neuroradiology
2025

Infectious Aortitis Presenting as Constipation: A Diagnostic Pitfall.

Cureus
2026

Letter regarding "Increased risk for thoracic aneurysms in female and familial abdominal aortic aneurysm patients".

Journal of vascular surgery
2025

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.

medRxiv : the preprint server for health sciences
2026

Right Coronary Artery to Coronary Sinus Fistula: A Rare Problem With an Elegant Solution.

JACC. Case reports
2025

Clinical Features and Post-Coiling Outcomes of Symptomatic Internal Carotid Artery-Posterior Communicating Artery Aneurysms: A Case Series and Literature Review.

Asian journal of neurosurgery
2025

[Aneurysms and arterial dissections : when to suspect an underlying complex vascular disorder ?].

Revue medicale suisse
2025

Prenatal ultrasound diagnosis of isolated pseudoaneurysm of the fetal iliac artery: a case report.

BMC pregnancy and childbirth
2025

Global Profiling of the Proteome and Acetylome in Mice with Abdominal Aortic Aneurysms.

ACS omega
2025

Sex 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 Surgery
2025

Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8.

JACC. Case reports
2025

A large French family with TGFBR2 pathogenic variant: illustration of variability.

Orphanet journal of rare diseases
2025

Beyond 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 Surgery
2025

Spontaneous resolution of traumatic pseudoaneurysm: A case report.

Medicine
2025

Picket-Fence Technique in Surgical Treatment of Cerebral Aneurysms and Role of Intraoperative Videoangiography in Aneurysm Surgery.

Medicina (Kaunas, Lithuania)
2026

Patient Characteristics and Outcomes of Cardiac Rehabilitation Following Thoracic Aortic Dissection Surgery: A MULTICENTER RETROSPECTIVE STUDY.

Journal of cardiopulmonary rehabilitation and prevention
2026

Targeted abdominal aortic aneurysm screening: a retrospective review of a high-volume Irish tertiary vascular centre.

Irish journal of medical science
2026

The role of ANGPTL8 in metabolism and cardiovascular diseases: Consensus and controversy.

Atherosclerosis
2026

Clinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Advances in experimental medicine and biology
2025

Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom.

Cureus
2025

[Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement].

Kyobu geka. The Japanese journal of thoracic surgery
2025

[Thoracic Endovascular Aortic Repair for Intra-aortic Thrombosis in the Distal Arch].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Dramatic Coronary Artery Aneurysm Regression After Coronary Artery Bypass Grafting and Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitor Therapy.

Interdisciplinary cardiovascular and thoracic surgery
2026

Transforming growth factor-beta (TGF-β) in the pathogenesis of hereditary thoracic aneurysm disorders.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2025

Local Anesthesia Is Associated With Lower Mortality After Endovascular Repair of Ruptured Abdominal Aortic Aneurysm.

The American surgeon
2026

SLAMF1 as a Risk Biomarker for Nontraumatic SAH: Evidence From a Multiomics Study.

Stroke
2026

T-cadherin deprivation in endothelial cells promotes vascular injury in Kawasaki disease through SOD2/ROS/NLRP3 pathway-mediated pyroptosis.

Journal of molecular cell biology
2025

A machine learning predictive model for acute kidney injury among aneurysmal subarachnoid hemorrhage patients.

BMC medical informatics and decision making
2025

Rare oculomotor nerve palsy after interventional treatment of anterior communicating artery aneurysm: A case report.

Medicine
2025

Syphilitic Cardiac and Vascular Disease: A Comprehensive Review.

Cardiology in review
2025

MRI of the 'Tiger': a case series.

European heart journal. Case reports
2025

Successful Endovascular Repair of a Thoracic Infected Aortic Aneurysm with Concomitant Liver Abscess: A Case Report.

The American journal of case reports
2026

Guideline-based screening for abdominal aortic aneurysms is significantly underperformed and possibly impacted by medical comorbidities.

Journal of vascular surgery
2025

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report.

Frontiers in genetics
2025

Late presentation and diagnosis of concomitant ruptured sinus of valsalva and congenital gerbode defect in an elderly gentleman.

Journal of cardiothoracic surgery
2025

Undisclosed Abdominal Aortic Aneurysm as a Risk Factor for Hemorrhage in Tenecteplase Stroke Thrombolysis: A Case Report.

The American journal of case reports
2025

Risk factors for thoracic aortic aneurysm and dissection among diabetic patients: a nationwide population-based study.

Frontiers in cardiovascular medicine
2025

Polyarteritis 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 pathology
2025

Psychiatric sequelae following aneurysmal subarachnoid hemorrhage: Insights from a high-volume neurosurgical center in northern China.

World journal of psychiatry
2025

Advances in screening and management of unruptured intracranial aneurysms.

The Lancet. Neurology
2025

Epidemiology, pathogenesis, and emerging concepts in unruptured intracranial aneurysms.

The Lancet. Neurology
2025

Chronological and Biological Age in Predicting Outcomes of Older Patients in Neurosurgery.

Neurologia medico-chirurgica
2025

Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.

Molecular syndromology
2025

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

The Journal of clinical investigation
2025

A Rare Heterozygous MYH11 Missense Variant in a Patient With Recurrent Strokes, Intracerebral Arterial Pathology, and Aortic Aneurysm.

Cureus
2025

Postoperative rupture of an artery dissected from a cerebral aneurysm dome following clipping: A rare and fatal complication.

Journal of cerebrovascular and endovascular neurosurgery
2025

Sudden death due to aortic dissection: autopsy study (2011-2023).

Journal of forensic and legal medicine
2025

Zinc finger GATA-like protein 1 regulates apoptosis and phenotypic transformation via protein kinase B pathway in human vascular smooth muscle cells.

Neuroreport
2025

A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.

Ophthalmic genetics
2025

Dysregulated smooth muscle cell proliferation and gene expression underlie ACTA2 variant-associated aortopathy.

American journal of physiology. Heart and circulatory physiology
2025

Prediction of Recurrence and Rupture Risk of Ruptured and Unruptured Intracranial Aneurysms of the Posterior Circulation: A Machine Learning-Based Analysis.

Diagnostics (Basel, Switzerland)
2025

Intra-hospital MRI transport in neurocritical patients with aneurysmal subarachnoid hemorrhage: complications and clinical impact with predominant continuation of care.

Neurosurgical review
2025

MIF 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 Biology
2025

Ruptured Aortic Arch Aneurysm Without Surgical Intervention Resulting in 11-Day Survival in a Woman: An Autopsy-Proven Aortoesophageal Fistula.

Cureus
2025

Bempedoic 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 Arteriosclerosis
2025

Risk factors for abdominal aortic aneurysm in general populations: A systematic review and meta-analysis.

PloS one
2025

The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.

Medical sciences (Basel, Switzerland)
2025

Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.

QJM : monthly journal of the Association of Physicians
2025

A comparison of women and men with small abdominal aortic aneurysms.

The British journal of surgery
2025

Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.

Prague medical report
2025

Macrophage-derived KIF13B interacts with USP9X to attenuate abdominal aortic aneurysm development by potentiating TFEB stability.

Theranostics
2025

Isolated Congenital Membranous Interventricular Septal Aneurysm: A Rare Incidental Finding.

Cureus
2025

Polyester 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 Surgery
2025

Impact 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 nephrology
2025

Patient Needs Regarding Cardiac Rehabilitation: A Systematic Review and Meta-Ethnographic Synthesis.

Journal of the American Heart Association
2025

Epigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.

Molecular systems biology
2025

[Vascular Ehlers-Danlos syndrome discovered after splenic aneurysm rupture: a case report].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2025

[Abdominal aortic aneurysm prevalence study in Primary Care].

Atencion primaria
2025

Transcriptomic Analysis Exploring the Role of Aquaporins in the Pathogenesis of Thoracic Aortic Aneurysm.

The Annals of thoracic surgery
2025

Exiting 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 policy
2025

Loss of Myh11 K1256 Dysregulates the Extracellular Matrix and Focal Adhesion by Inhibiting Zyxin-Activated Transcription.

International journal of molecular sciences
2026

A 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 Obstetrics
2025

Pulsating Evidence: Clinical Visualization of an Abdominal Aortic Aneurysm.

Cureus
2025

Genistein ameliorates thoracic aortic dissection by inhibiting CB1 receptor hyperactivation and modulating its-mediated cAMP-PKA signaling.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Ascending Aortic Dimensions and Body Size: Allometric Scaling, Normative Values, and Prognostic Performance.

JACC. Cardiovascular imaging
2025

Effect of Oral Administration of Colchicine on Progression of Aortic Aneurysm in Mice.

Circulation journal : official journal of the Japanese Circulation Society
2025

Fatal 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 Pathology
2025

Vertebral Artery Dissection Following High Velocity Low Amplitude Cervical Manipulation: A Case Report.

Cureus
2025

ALOX5 regulates vascular smooth muscle cells pyroptosis to affect abdominal aortic aneurysm formation.

Scientific reports
2025

Valve-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 : MMCTS
2025

Exposing 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 Surgery
2025

Inverse finite element identification of murine aortic material properties: in vivo and ex vivo comparisons.

Computer methods in biomechanics and biomedical engineering
2025

The effect of puerarin on the NLRP3 Inflammasome pathway and MMP-9 in aortic dissection of ApoE-/- mice.

International immunopharmacology
2025

Successful 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 cases
2025

Untargeted metabolomics-based elucidation of metabolic reprogramming mechanisms and pathways following aortic dissection surgery.

European journal of medical research
2025

Kawasaki disease with persistent severe psoriatic-like skin manifestations and sudden cardiac death.

International journal of cardiology. Congenital heart disease
2025

The predictive role of family history of antipsychotic drug use in poor outcomes following aneurysmal subarachnoid hemorrhage (aSAH).

Brain &amp; spine
2025

The Modified Frailty Index-11 is a Poor Predictor of 1-Year Mortality and Morbidity After Ruptured Abdominal Aortic Aneurysm Repair.

Annals of vascular surgery
2025

Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease.

JACC. Advances
2025

Long-Term Risk of Recurrent Cervical Artery Dissection and Stroke After Pregnancy.

JAMA network open
2025

The epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk loci.

bioRxiv : the preprint server for biology
2025

AXL in cardiovascular diseases: Pathophysiological insights and clinical perspectives.

Pathology, research and practice
2026

Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.

Practical neurology
2025

A 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 therapy
2025

Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies.

Frontiers in cardiovascular medicine
2025

Differences in gut microbiome between autosomal dominant polycystic kidney disease with and without intracranial aneurysms.

Scientific reports
2025

Multiple coronary artery aneurysms in a young patient with Kawasaki disease and heterozygous familial hypercholesterolemia: A case study.

Journal of clinical lipidology
2025

What 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 Surgery
2025

Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.

Orphanet journal of rare diseases
2025

Serial changes and optimal imaging windows in vessel wall MRI for unruptured intracranial artery dissection.

Scientific reports
2025

Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.

Scientific reports
2025

Giant ascending aortic aneurysm in a 6-year-old boy with LOX gene mutation associated with familial thoracic aortic aneurysm type 10.

European heart journal
2025

A 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
2025

[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 genetics
2025

Characterization of Arterial Aneurysms in Loeys-Dietz Syndrome.

Journal of the American College of Cardiology
2025

Transient Cortical Blindness: A Rare Sequelae Following Endovascular Embolization of a Basilar Tip Aneurysm.

Cureus
2025

Giant Pulmonary Artery Aneurysm in a Young Male Patient.

Annals of thoracic surgery short reports
2025

Factors 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 Surgery
2025

Cracking the Kinase Code: Urinary Biomarkers as Early Alarms for AAA Rupture-A Pilot Study.

Journal of clinical medicine
2025

Root Remodeling versus Root Reimplantation in Patients with Bicuspid Aortic Valve and Root Aneurysm.

Aorta (Stamford, Conn.)
2025

Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.

Cells
2025

Utility 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 Genetics
2025

Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.

medRxiv : the preprint server for health sciences
2025

Surgical treatment for symptomatic pure arterial malformations: a single-center experience.

Neurosurgical review
2025

Middle 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 Association
2025

The 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 Specialists
2025

Distinct Gut Microbiota Profiles in Unruptured and Ruptured Intracranial Aneurysms: Focus on Butyrate-Producing Bacteria.

Journal of clinical medicine
2025

Unravelling the Genotype of the Apical Variant of Hypertrophic Cardiomyopathy in a Swedish Cohort.

Genes
2025

The Role of Cardiac Magnetic Resonance Imaging in the Management of Hypertrophic Cardiomyopathy.

Journal of cardiovascular development and disease
2025

Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.

Circulation. Genomic and precision medicine
2025

Familial Thoracic Aortic Aneurysm and Dissection: Simultaneous Presentation in Two Brothers.

Cureus
2025

A retrospective review of safety and efficacy of the selectFlex neurovascular access catheters.

Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences
2025

Behind the Smoke: A Bladder Cancer Case Report Through the Eyes of Primary Care.

Cureus
2025

Uncovering a Windsock Aneurysm of the Interventricular Septum: An Incidental Structural Abnormality.

Methodist DeBakey cardiovascular journal
2025

Damage-associated molecular patterns (DAMPs) in vascular diseases.

The Journal of biological chemistry
2025

Utility and Limitations of Genetic Testing in the Routine Care of Cardiovascular Disease Patients in a General Hospital.

International heart journal
2025

MicroRNA-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 &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.

Circulation research
2026

Systemic Arterial Aneurysms in Kawasaki Disease: An Important Evidence Gap.

Pediatric cardiology
2025

Aortoenteric Fistulas Following Endovascular Aortic Aneurysm Repair: A Review.

Vascular and endovascular surgery
2025

Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome.

Frontiers in cardiovascular medicine
2025

Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management.

Mayo Clinic proceedings
2025

Comparison 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 review
2025

Macrophage Lyn Kinase Is a Sex-Specific Regulator of Post-Subarachnoid Hemorrhage Neuroinflammation.

Journal of the American Heart Association
2025

Mitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development.

Cells
2025

Spectrum of Coronary Artery Involvement With Multisystem Inflammatory Syndrome in Children Versus Kawasaki Disease.

Journal of the American Heart Association

Associações

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Comunidades

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Doenças relacionadas

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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. Prediction of incident heart failure in established atherosclerotic cardiovascular disease: the SMART2-HF model.
    European heart journal· 2026· PMID 41810961mais citado
  2. Treatment-related complications of intracranial aneurysms smaller than 5 mm: A multicenter analysis of 1,519 cases in Latin America.
    Surgical neurology international· 2026· PMID 41783197mais citado
  3. Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.
    Journal of cellular and molecular medicine· 2026· PMID 41677031mais citado
  4. Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.
    Circulation· 2026· PMID 41645906mais citado
  5. CD95 ligand drives abdominal aortic aneurysm progression through Caspase-8-mediated GSDMD-dependent endothelial pyroptosis: modulation by SRC kinase.
    Apoptosis : an international journal on programmed cell death· 2026· PMID 41622361mais citado
  6. Men's Preferences for Exiting Abdominal Aortic Aneurysm Surveillance: A Deliberative Engagement Session Study.
    Patient Prefer Adherence· 2026· PMID 41858642recente
  7. Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.
    JACC Case Rep· 2026· PMID 41848446recente
  8. Insight Into the Multifactorial Nature of Platypnea-Orthodeoxia Syndrome: Not Just a Solo.
    JACC Case Rep· 2026· PMID 41823912recente
  9. Coexistence of Intracranial Aneurysm and Pituitary Adenoma: A Case Report and Literature Review.
    Cureus· 2026· PMID 41822667recente
  10. MILITARY-SPECIFIC MANAGEMENT OF ACTIVE DUTY PATIENTS WITH ANEURYSM OR DILATION OF THE ASCENDING AORTA.
    Ann Thorac Surg· 2026· PMID 41819247recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:231160(Orphanet)
  2. MONDO:0016483(MONDO)
  3. GARD:17161(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Aneurisma sacular familiar
Compêndio · Raras BR

Aneurisma sacular familiar

ORPHA:231160 · MONDO:0016483
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive
CID-10
I67.1 · Aneurisma cerebral não-roto
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1835857
Wikidata
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