Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.
Ontology highlight
ABSTRACT: Purpose
Turner syndrome (TS) is the most common sex chromosome disorder in women and is associated with a higher than expected death rate secondary to cerebrovascular disease, including stroke. This study evaluates the cerebral vascular anatomy of individuals with TS.Methods
Twenty-one women with TS had brain magnetic resonance angiography (MRA). These MRAs were evaluated in a blinded manner with a control group of 25 men and 25 women who had MRA imaging for multiple indications including migraine headaches, psychiatric disorders, and seizures.Results
Twenty-nine percent of women with TS were missing an A1 segment of the anterior cerebral artery (ACA) compared to 0% in the control group (p < .001). There were no other significant differences in the circle of Willis (COW) in women with TS compared with the control group. A complete COW was found in 3 of 21 (14%) of women with TS and 12 of 47 (26%) controls (p = .36).Conclusion
Women with TS have a significantly different intracranial vascular anatomy, specifically the absence of the A1 segment of the ACA when compared to male and female controls. More research in brain imaging in women with TS and stroke and other cerebrovascular diseases is needed to determine the clinical significance of this anomaly.
SUBMITTER: Kruszka P
PROVIDER: S-EPMC8424465 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:BackgroundAn incomplete circle of Willis (CoW) has been associated with a higher risk of stroke and might affect collateral flow in large vessel occlusion (LVO) stroke. We aimed to investigate the distribution of CoW variants in a LVO stroke and transient ischemic attack (TIA) cohort and analyze their impact on 3-month functional outcome.MethodsCoW anatomy was assessed with time-of-flight magnetic resonance angiography (TOF-MRA) in 193 stroke patients with acute middle cerebral artery (MCA)-M1-occlusion receiving endovascular treatment (EVT) and 73 TIA patients without LVO. The main CoW variants were categorized into four vascular models of presumed collateral flow via the CoW.Results82.4% (n = 159) of stroke and 72.6% (n = 53) of TIA patients had an incomplete CoW. Most variants affected the posterior circulation (stroke: 77.2%, n = 149; TIA: 58.9%, n = 43; p = 0.004). Initial stroke severity defined by the National Institutes of Health Stroke Scale (NIHSS) on admission was similar for patients with and without CoW variants. CoW integrity did not differ between groups with favorable (modified Rankin Scale [mRS]): 0-2) and unfavorable (mRS: 3-6) 3-month outcome. However, we found trends towards a higher mortality in patients with any type of CoW variant (p = 0.08) and a higher frequency of incomplete CoW among patients dying within 3 months after stroke onset (p = 0.119). In a logistic regression analysis adjusted for the potential confounders age, sex and atrial fibrillation, neither the vascular models nor anterior or posterior variants were independently associated with outcome.ConclusionOur data provide no evidence for an association of CoW variants with clinical outcome in LVO stroke patients receiving EVT.
| S-EPMC8596978 | biostudies-literature
Project description:Brain arteries are wrapped by vascular smooth muscle cells (VSMCs). Fully differentiated VSMCs are important for brain artery homeostasis, and they are lost in several cerebrovascular diseases. How healthy VSMCs differentiate on different brain arteries during development is unclear. Such knowledge will help regenerate lost VSMCs in brain arteriopathy. To answer this question, we studied the developmental muscularization of the zebrafish circle of Willis (CW) arteries, the major arterial loop that supplies blood to the brain in all vertebrates. We found that artery specification of CW endothelial cells (ECs) happens after they migrate from primitive veins to form CW arteries. VSMCs differentiate from pdgfrb+ common vascular mural cell progenitors at the time when embryo circulation starts and progress temporally and spatially from anterior to posterior CW arteries. Computational fluid dynamic simulation confirms that earlier VSMC differentiation coincide with higher pulsatile flow hemodynamics in anterior CW arteries. Pulsatile blood flow induces the differentiation of human brain pdgfrb+ progenitors into VSMCs and reducing pulsatile blood flow by blocking the zebrafish embryo heartbeat after pdgfrb+ recruitment but before VSMC differentiation limits the number of mature VSMCs. Congruently, the flow responsive transcription factor klf2a is activated in ECs before VSMC differentiation and knockdown delays VSMC differentiation on CW arteries. Overall, our data place hemodynamic activation of endothelial klf2a signaling as key determinant of spatiotemporal VSMC differentiation on CW arteries.
| S-EPMC10705471 | biostudies-literature
Project description:BACKGROUND:It is not clear whether the configuration of the posterior part of the circle of Willis (CW) depends on the proximal part of the vertebrobasilar system. Our aim is to evaluate the posterior part of CW in association with different size of vertebral arteries (VA) in healthy volunteers. MATERIALS AND METHODS:The present study was based on a sample of 923 healthy volunteers who were examined from 2013 through 2018. The duplex ultrasonographic examination of the extracranial vertebral (VA) and carotid arteries was performed. VA was defined as hypoplastic (VAH) when VA diameter in the entire course was less than 2.5 mm. All the participants underwent magnetic resonance angiography (MRA) examination. All the component vessels of the circle of Willis were assessed in each individual. We classified the posterior communicating artery (PCoA) as presence PCoA, absence/hypoplastic PCoA and fetal-type posterior circle of Willis (FCW) in which the major stem of the posterior cerebral artery (PCA) arises from ipsilateral internal carotid artery (ICA). The comparison of the posterior part of CW was made in subjects with normal VA and VAH of a different degree (communicating with basilar artery (VAH-BA) and not communicating with the basilar artery (VAH-PICA)). RESULTS:FCW was found in 15.9% of subjects, bilaterally-in 2.3%. FCW was more frequent in individuals with VAH than in those with normal VA (accordingly, 28.8% vs. 13.5%, p<0.001. Moreover FCW was recorded in 50% of the subjects with VA-PICA in comparison with 13.5% of those with normal VA and 22.8% with VAH-BA, p<0.005. On the contrary, absence/hypoplasia of both PCoA was mostly found in the group with normal VA in comparison with VAH-BA and VAH-PICA (accordingly, 50.7%, 38.6% and 12.5%, p<0.01). CONCLUSION:Individuals with VAH have a different pattern of the posterior part of CW in comparison with those with normal VA. With the increasing degree of VAH, the proportion of FCW increases, while the proportion of absence/hypoplastic of both PCoA decreases.
| S-EPMC6742380 | biostudies-literature
Project description:BACKGROUND:The purpose of this study was to clarify the effect of asymmetric COW variants on carotid flow changes, and proposed an easy estimate of the representative carotid flow volume for accurate numerical simulation. METHODS:A total of 210 healthy adults receiving magnetic resonance angiography and carotid duplex sonography were included. Three anterior cerebral artery asymmetry (AA) groups were defined based on the diameter ratio difference (DRD) of bilateral A1 segments: AA1 group, one-side A1 aplasia; AA2, A1 DRD???50%; AA3, A1 DRD between 10 and 50%. Similarly, 3 posterior communicating artery (PcomA) asymmetry (PA) groups were defined: PA1 group, one fetal-origin posterior cerebral artery and absent contralateral PcomA; PA2, PcomA DRD???50%; PA3, PcomA DRD between 10 and 50%. RESULTS:With A1 asymmetry, the ICA diameter of the dominant A1 is significantly greater than the contralateral side. Significant differences of bilateral ICA flow were present in the AA1 and AA2 groups (mean flow difference 42.9 and 30.7%, respectively). Significant bilateral ICA diameter and flow differences were only found in the PA1 group. Linear regression analysis of ICA diameter and flow found a moderately positive correlation between ICA diameter and flow in all AA groups, with a 1?mm increment in vessel diameter corresponding to a 62.6?ml increment of flow volume. The product of bilateral ICA diameter and flow volume difference (ICA-PDF) could be a potential discriminator with a cutoff of 4.31 to predict A1 asymmetry ?50% with a sensitivity of 0.81 and specificity of 0.76. CONCLUSIONS:The study verifies that A1 asymmetry causes unequal bilateral carotid inflow, and consequently different bilateral ICA diameters. Adjustment of the inflow boundary conditions according to the COW variants would be necessary to improve the accuracy of numerical simulation.
| S-EPMC7305584 | biostudies-literature
Project description:PurposeTo establish the feasibility of using vessel-encoded pseudocontinuous arterial spin labeling (VEPCASL) for noninvasive vascular territory imaging (VTI) and artery-specific dynamic angiography of a large number of arterial branches above the circle of Willis within a clinically feasible scan time.Methods3D time-of-flight angiography was used to select a labeling plane and establish 7 pairs of encoding cycles. These were used for VEPCASL VTI and dynamic 2D angiography (8 min and 3 min acquisition times, respectively) in healthy volunteers, allowing the separation of signals arising from 13 arterial branches (including extracranial arteries) in postprocessing. To demonstrate the clinical potential of this approach, VEPCASL angiography was also applied in 5 patients with brain arteriovenous malformation (AVM).ResultsIn healthy volunteers, the artery-specific filling of the vascular tree and resulting perfusion territories were well depicted. SNRs were approximately 5 times higher than those achievable with single-artery selective methods. Blood supply to the AVMs was well visualized in all cases, showing the main feeding arteries and venous drainage.ConclusionsVEPCASL is a highly efficient method for both VTI and dynamic angiography of a large number of arterial branches, providing a comprehensive picture of vascular flow patterns and the effect on downstream tissue perfusion within an acceptable scan time. Automation of labeling plane and vessel-encoding selection would improve robustness and efficiency, and further refinement could allow quantitative blood flow measurements to be obtained. This technique shows promise for visualizing the blood supply to lesions and collateral flow patterns.
| S-EPMC6492185 | biostudies-literature
Project description:ObjectivesMigraine is a risk factor for stroke, which might be explained by a higher prevalence in anatomical variants in the circle of Willis (CoW). Here, we compared the presence of CoW variants in patients with stroke with and without migraine.Materials and methodsParticipants were recruited from the prospective Dutch acute Stroke Study. All participants underwent CT angiography on admission. Lifetime migraine history was assessed with a screening questionnaire and confirmed by an interview based on International Classification of Headache Disorders criteria. The CoW was assessed for incompleteness/hypoplasia (any segment <1 mm), for anterior cerebral artery asymmetry (difference > 1/3), and for posterior communicating artery (Pcom) dominance (Pcom-P1 difference > 1/3). Odds ratios with adjustments for age and sex (aOR) were calculated with logistic regression.ResultsWe included 646 participants with stroke, of whom 52 had a history of migraine. Of these, 45 (87%) had an incomplete or hypoplastic CoW versus 506 (85%) of the 594 participants without migraine (aOR: 1.47; 95% CI: 0.63-3.44). There were no differences between participants with and without migraine in variations of the anterior or posterior CoW, anterior cerebral artery asymmetry (aOR: 0.86; 95% CI: 0.43-1.74), or Pcom dominance (aOR: 0.64; 95% CI: 0.32-1.30). There were no differences in CoW variations between migraine patients with or without aura.ConclusionWe found no significant difference in the completeness of the CoW in acute stroke patients with migraine compared to those without.
| S-EPMC6422794 | biostudies-literature
Project description:BackgroundMyocardial infarction (MI) with non-obstructive coronary arteries presenting with ST-segment elevation can be challenging. Understanding the cardiac and non-cardiac causes aid in identifying the underlying diagnosis and deciding on the management. Neurological insult resulting in a mismatch of oxygen supply or demand to cardiomyocytes can lead to type 2 MI. Acute brain injury, such as intracranial haemorrhage, can induce cardiac dysfunction secondary to brain-heart interaction via hypothalamic-pituitary-adrenal axis and catecholamine surge.Case summaryA 50-year-old Caucasian male who vaped cannabis presented with epileptic seizures. A Glasgow coma scale of 7/15 necessitated urgent intubation. Electrocardiogram showed ST-segment elevation in inferior leads. Computed tomography of the head suggested intracerebral haemorrhage. He was stabilized in the intensive care unit (ICU). Subsequent imaging confirmed anterior communicating cerebral artery aneurysm and haematoma. Echocardiogram showed severe left ventricular dysfunction and hypokinesia in the left circumflex (LCx) territory. After step down from ICU, cardiac magnetic resonance imaging revealed transmural MI and myocardial oedema at LCx territory. Coronary angiogram was normal. Patient was treated with Levetiracetam and heart failure regimen. A cardiac defibrillator was implanted for secondary prevention and he was scheduled for elective neurosurgical intervention. A follow-up outpatient echocardiogram was normal.DiscussionMyocardial infarction with non-obstructive coronary arteries is uncommon. Though the majority is due to either plaque disruption or myocarditis, non-cardiac causes, such as acute neurological insults and substance use, should be considered. Scrutinizing the clinical presentation and using a meticulous approach with appropriate investigations are required to reach the correct diagnosis and appropriate management.
| S-EPMC8099231 | biostudies-literature
Project description:Hypertension is common among older adults and is believed to increase susceptibility to Alzheimer's disease, but mechanisms underlying this relationship are unclear. Hypertension also promotes circle of Willis atherosclerosis, which contributes to cerebral hypoperfusion and arterial wall stiffening, two potential mechanisms linking hypertension to Alzheimer's disease. To examine the role of circle of Willis atherosclerosis in the association between hypertension and Alzheimer's disease neuropathology, we analysed post-mortem neuropathological data on 2198 decedents from the National Alzheimer's Coordinating Center database [mean (standard deviation) age at last visit 80.51 (1.95) and 47.1% female] using joint simultaneous (i.e. mediation) modelling. Within the overall sample and among Alzheimer's dementia decedents, hypertension was indirectly associated with increased neuritic plaques and neurofibrillary tangles through its association with circle of Willis atherosclerosis. Similar indirect effects were observed for continuous measures of systolic and diastolic blood pressure. These results suggest that hypertension may promote Alzheimer's disease pathology indirectly through intracranial atherosclerosis by limiting cerebral blood flow and/or dampening perivascular clearance. Circle of Willis atherosclerosis may be an important point of convergence between vascular risk factors, cerebrovascular changes and Alzheimer's disease neuropathology.
| S-EPMC7846096 | biostudies-literature
Project description:BackgroundIntracranial aneurysms more often occur in the same arterial territory within families. Several aneurysm locations are associated with specific circle of Willis variations. We investigated whether the same circle of Willis variations are more likely to occur in first-degree relatives than in unrelated individuals.MethodsWe assessed four circle of Willis variations (classical, A1-asymmetry, incomplete posterior communicating artery and fetal circulation) in two independent groups of families with familial aneurysms and ≥2 first-degree relatives with circle of Willis imaging on MRA/CTA. In each (index) family we determined the proportion of first-degree relatives with the same circle of Willis variation as the proband and compared it to the proportion of first-degree relatives of a randomly selected unrelated (comparison) family who had the same circle of Willis variation as the index family's proband. Concordance in index families and comparison families was compared with a conditional logistic events/trials model. The analysis was simulated 1001 times; we report the median concordances, odds ratios (ORs), and 95% confidence intervals (95%CI). The groups were analysed separately and together by meta-analysis.ResultsWe found a higher overall concordance in circle of Willis configuration in index families than in comparison families (meta-analysis, 244 families: OR 2.2, 95%CI 1.6-3.0) mostly attributable to a higher concordance in incomplete posterior communicating artery (meta-analysis: OR 2.8, 95%CI 1.8-4.3). No association was found for the other three circle of Willis variations.ConclusionsIn two independent groups of families with familial aneurysms, the incomplete PcomA variation occurred more often within than between families suggesting heritability of this circle of Willis variation. Further studies should investigate genetic variants associated with circle of Willis formation.
| S-EPMC5788367 | biostudies-literature
Project description:The Circle of Willis (CoW), the ring of arteries at the base of the brain, links the intracerebral arteries to one another to maintain adequate cerebral perfusion. The CoW proteome is affected in cerebrovascular and neurodegenerative diseases, but changes related to aging have not been described. Here, we report on a quantitative proteomics analysis comparing the CoW from five young (two-three-month-old) and five aged (18–20-month-old) mice.
2024-06-26 | PXD043001 | Pride