scholarly journals RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1468
Author(s):  
Yasuo Murai ◽  
Eitaro Ishisaka ◽  
Atsushi Watanabe ◽  
Tetsuro Sekine ◽  
Kazutaka Shirokane ◽  
...  

A mutation in RNF213 (c.14576G>A), a gene associated with moyamoya disease (>80%), plays a role in terminal internal carotid artery (ICA) stenosis (>15%) (ICS). Studies on RNF213 and cerebral aneurysms (AN), which did not focus on the site of origin or morphology, could not elucidate the relationship between the two. However, a report suggested a relationship between RNF213 and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and RNF213. We analyzed RNF213 expression in subjects with ICA-AN and atherosclerotic ICS. Cases with a family history of moyamoya disease were excluded. AN smaller than 4 mm were confirmed as AN only by surgical or angiographic findings. RNF213 was detected in 12.2% of patients with ICA-AN and 13.6% of patients with ICS; patients with ICA-AN and ICS had a similar risk of RNF213 mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199–3.91; p = 0.871). The relationship between ICA-AN and RNF213 (c.14576G>A) was not correlated with the location of the ICA and bifurcation, presence of rupture, or multiplicity. When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development. The results of this study may form a basis for further research on systemic vascular diseases, in which the RNF213 (c.14576G>A) mutation has been implicated.

2003 ◽  
Vol 9 (1) ◽  
pp. 39-45 ◽  
Author(s):  
M. Komiyama

The purpose of this literature review is to disclose the relationship between the temporal profile of steno-occlusive changes in the cerebral arteries in moyamoya disease and the embryological evolution of the cerebral arteries. Steno-occlusive changes and progression occur in the sequence of embryological evolution of the primitive internal carotid artery in the early embryological stage. In other words, steno-occlusive changes in the cerebral arteries occur primarily near the bifurcation of the cranial and caudal divisions of the primitive internal carotid artery, evolve from the cranial division to the caudal one, and progress from the bifurcation centrifugally. Steno-occlusive changes do not occur essentially in the distal cortical branches of the primitive internal carotid artery, in any arteries in the external carotid system, which are derived from ventral pharyngeal system and primitive stapedial system, or in any cerebral arteries in the vertebrobasilar system, which are derived from the longitudinal neural arteries. These facts suggest that moyamoya disease is strongly related to the vasculogenesis of the primitive internal carotid artery and genetic factors play a major role in the clinical manifestations of moyamoya disease.


VASA ◽  
2005 ◽  
Vol 34 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Engelhardt ◽  
Bruijnen ◽  
Schnur ◽  
Pfadenhauer ◽  
Bohndorf ◽  
...  

Background: The value of carotid endarterectomy for stroke prevention depends on reliable identification of patients at higher risk for stroke from their internal carotid artery (ICA) occlusive disease than from surgery. This selection of patients is based on the degree of ICA stenosis. Therefore, preoperative diagnostic measures should strive for a prevalence independent probability for disease of 100%. Aim of this prospective study was to obtain clinically applicable duplex scanning criteria for ICA stenosis ≥70% with a probability for disease of 100%. Patients and methods: In 124 ICA in 62 patients (79% male) angiography and duplex scanning were performed. Degree of stenosis was classified in 4 categories: I < 50%; II 50%–69%; III 70%–99%; IV 100%. Cohen's kappa statistic was used to estimate agreement between both methods within categories. To improve accuracy post-test likelihood for disease was calculated for each point on the receiver operating characteristics (ROC)-curve for peak systolic (PSV) and end-diastolic velocity (EDV), and cut-off points for velocity criteria were set at a positive likelihood of 100%. Results: Diagnostic agreement was good with kappa = 0.77 (95% CI, 0.64–0.90; p < 0.001). For EDV a criterion of ≥150 cm/sec was associated with a post-test likelihood for disease of 100%. For PSV no appropriate criterion could be detected. Conclusions: A probability of 100% for ICA stenosis ≥70% can be achieved by mere preoperative duplex scanning. Vascular laboratory specific validation of duplex scanning criteria should consider prevalence independent post-test likelihood for disease to ensure the value of CEA for stroke prevention.


1983 ◽  
Vol 58 (6) ◽  
pp. 949-953 ◽  
Author(s):  
Toru Satoh ◽  
Yuji Yamamoto ◽  
Syoji Asari ◽  
Masaru Sakurai ◽  
Kenji Suzuki

✓ The authors report a case of multiple cerebral aneurysms associated with moyamoya disease, in which the reduction and disappearance of bilateral internal carotid artery aneurysms and the new development and enlargement of basilar artery aneurysms were demonstrated on sequential cerebral angiograms. Possible mechanisms of the spontaneous disappearance and development of cerebral aneurysms in association with moyamoya disease are discussed.


2010 ◽  
Vol 113 (4) ◽  
pp. 881-884 ◽  
Author(s):  
R. Shane Tubbs ◽  
Marios Loukas ◽  
Joshua Dixon ◽  
Aaron A. Cohen-Gadol

Object Occasionally, the internal carotid artery (ICA) may be symptomatically compressed in the neck by an elongated styloid process. The authors are unaware, however, of any study to date in which the aim was to describe the compression of this part of the ICA by surrounding muscles extending from the styloid process. Methods In 20 adult cadavers (40 sides), dissection of the cervical ICA was performed, with special attention given to the relationship between this artery and the stylopharyngeus muscle. In addition, rotation of the head was performed while observing for any compression of the ICA by this muscle. Last, the segment of the ICA immediately adjacent to the stylopharyngeus was excised and evaluated for signs of gross compression. Results Five sides (12.5%) were found to have an ICA that was grossly compressed by the neighboring stylopharyngeus muscle, and this was confirmed on excised ICA specimens. Moreover, such compression was increased with ipsilateral rotation of the head. Effacement of the lumen of the ICA by the stylopharyngeus ranged from approximately 30 to 50%. Such compression was increased by approximately 25% with ipsilateral rotation of the head. Conclusions To the authors' knowledge, compression of the cervical ICA by the stylopharyngeus muscle has not been previously described. Such a relationship should be appreciated by the clinician who treats patients with symptoms of ICA stenosis or occlusion as a potential extracranial site of compression. Based on this study, a subset of patients with occlusion of the cervical ICA but without elongation of the styloid process should be included within the definition of Eagle syndrome.


2006 ◽  
Vol 134 (3-4) ◽  
pp. 122-128 ◽  
Author(s):  
Nenad Ilijevski ◽  
Borislav Krivokapic ◽  
Blasko Smiljanic ◽  
Dragoslav Nenezic ◽  
Petar Popov ◽  
...  

Introduction: The goal of modern carotid surgery is relief of symptoms, stroke prevention, improvement in quality of life, prevention of vascular dementia, and prolongation of lifetime. OBJECTIVE: The objective of this paper was to compare the outcome of carotid endarterectomy in cervical block vs. general anesthesia in patients with occluded contralateral internal carotid artery (ICA). METHOD: One hundred patients (76 male, 24 female, mean age 60.81 years) with occluded contralateral ICA were operated from 1997-2000. Neurological symptomatology, deficiency and stroke incidence were preoperatively analyzed in two groups. Duplex-scanning, angiograms and CT-scan confirmed the diagnosis. Risk factors analysis included hypertension, diabetes, lipid metabolism disorders, smoking and history of CAD, CABG and PAOD. Morbidity and mortality were used to compare the outcome of surgery in two groups. RESULTS There was no difference of age, gender and symptomatology between the groups. Paresis, TIA and dysphasia were most frequent. 70%-90% of ICA stenosis was seen in the majority of patients. Hypertension and smoking were dominant risk factors in these two groups. Eversion carotid end arterectomy was the most frequent technique used. In three cases out of nine that were operated under cervical block, the neurological symptoms developed just after clamping, so the intra-luminal shunt was placed. Postoperative morbidity was 12% and mortality was 8%. Conclusion: There was no difference of preoperative parameters, surgical technique and outcome in these two groups. Without other intraoperative monitoring, cervical block anesthesia might be an option in patients with the occlusion of the contralateral ICA. However, prospective studies involving more patients are needed.


2019 ◽  
Vol 24 (2) ◽  
pp. 184-189 ◽  
Author(s):  
Daniel-Alexandre Bisson ◽  
Peter Dirks ◽  
Afsaneh Amirabadi ◽  
Manohar M. Shroff ◽  
Timo Krings ◽  
...  

OBJECTIVEThere are little data in the literature on the characteristics and natural history of unruptured intracranial aneurysms in children. The authors analyzed their experience with unruptured intracranial aneurysms in the pediatric population at their tertiary care pediatric institution over the last 18 years. The first objective was to assess the imaging characteristics and natural history of these aneurysms in order to help guide management strategies in the future. A second objective was to evaluate the frequency of an underlying condition when an incidental intracranial aneurysm was detected in a child.METHODSThe authors conducted a Research Ethics Board–approved retrospective review of incidental intracranial aneurysms in patients younger than 18 years of age who had been treated at their institution in the period from 1998 to 2016. Clinical (age, sex, syndrome) and radiological (aneurysm location, type, size, thrombus, mass effect) data were recorded. Follow-up imaging was assessed for temporal changes.RESULTSSixty intracranial aneurysms occurred in 51 patients (36 males, 15 females) with a mean age of 10.5 ± 0.5 years (range 9 months–17 years). Forty-five patients (88.2%) had a single aneurysm, while 2 and 3 aneurysms were found in 3 patients each (5.8%). Syndromic association was found in 22 patients (43.1%), most frequently sickle cell disease (10/22 [45.5%]). Aneurysms were saccular in 43 cases (71.7%; mean size 5.0 ± 5.7 mm) and fusiform in the remaining 17 (28.3%; mean size 6.5 ± 2.7 mm). Thirty-one aneurysms (51.7%) arose from the internal carotid artery (right/left 1.4), most commonly in the cavernous segment (10/31 [32.3%]). Mean size change over the entire follow-up of 109 patient-years was a decrease of 0.6 ± 4.2 mm (range −30.0 to +4.0 mm, rate −0.12 ± 9.9 mm/yr). Interval growth (2.0 ± 1.0 mm) was seen in 8 aneurysms (13.3%; 4 saccular, 4 fusiform). An interval decrease in size (8.3 ± 10.7 mm) was seen in 6 aneurysms (10%). There was an inverse relationship between aneurysm size and growth rate (r = −0.82, p < 0.00001). One aneurysm was treated endovascularly with internal carotid artery sacrifice.CONCLUSIONSUnruptured pediatric intracranial aneurysms are most frequently single but can occur in multiples in a syndromic setting. None of the cases from the study period showed clinical or imaging signs of rupture. Growth over time, although unusual and slow, can occur in a proportion of these patients, who should be identified for short-term imaging surveillance.


2021 ◽  
pp. 1358863X2110112
Author(s):  
Heather L Gornik ◽  
Tatjana Rundek ◽  
Hannah Gardener ◽  
James F Benenati ◽  
Nirvikar Dahiya ◽  
...  

Diagnostic criteria to classify severity of internal carotid artery (ICA) stenosis vary across vascular laboratories. Consensus-based criteria, proposed by the Society of Radiologists in Ultrasound in 2003 (SRUCC), have been broadly implemented but have not been adequately validated. We conducted a multicentered, retrospective correlative imaging study of duplex ultrasound versus catheter angiography for evaluation of severity of ICA stenosis. Velocity data were abstracted from bilateral duplex studies performed between 1/1/2009 and 12/31/2015 and studies were interpreted using SRUCC. Percentage ICA stenosis was determined using North American Symptomatic Carotid Endarterectomy Trial (NASCET) methodology. Receiver operating characteristic analysis evaluated the performance of SRUCC parameters compared with angiography. Of 448 ICA sides (from 224 patients), 299 ICA sides (from 167 patients) were included. Agreement between duplex ultrasound and angiography was moderate (κ = 0.42), with overestimation of degree of stenosis for both moderate (50–69%) and severe (⩾ 70%) ICA lesions. The primary SRUCC parameter for ⩾ 50% ICA stenosis of peak-systolic velocity (PSV) of ⩾ 125 cm/sec did not meet prespecified thresholds for adequate sensitivity, specificity, and accuracy (sensitivity 97.8%, specificity 64.2%, accuracy 74.5%). Test performance was improved by raising the PSV threshold to ⩾ 180 cm/sec (sensitivity 93.3%, specificity 81.6%, accuracy 85.2%) or by adding the additional parameter of ICA/common carotid artery (CCA) PSV ratio ⩾ 2.0 (sensitivity 94.3%, specificity 84.3%, accuracy 87.4%). For ⩾ 70% ICA stenosis, analysis was limited by a low number of cases with angiographically severe disease. Interpretation of carotid duplex examinations using SRUCC resulted in significant overestimation of severity of ICA stenosis when compared with angiography; raising the PSV threshold for ⩾ 50% ICA stenosis to ⩾ 180 cm/sec as a single parameter or requiring the ICA/CCA PSV ratio ⩾ 2.0 in addition to PSV of ⩾ 125 cm/sec for laboratories using the SRUCC is recommended to improve the accuracy of carotid duplex examinations.


2021 ◽  
pp. 153857442199293
Author(s):  
Constantinos Zarmakoupis ◽  
George Galyfos ◽  
Grigorios Tsoukalos ◽  
Panagiota Dalla ◽  
Alexandra Triantafyllou ◽  
...  

This report aims to present a rare case of a common carotid artery (CCA) pseudoaneurysm with a concomitant internal carotid artery (ICA) stenosis that were treated with a hybrid technique. This strategy included the retrograde placement of a CCA covered stent under ICA clamping followed by standardized carotid endarterectomy. The technique will be discussed and compared with other possible treatments.


Neurosurgery ◽  
1990 ◽  
Vol 26 (3) ◽  
pp. 472-479 ◽  
Author(s):  
Slobodan V. Marinkovié ◽  
Milan M. Milisavljevié ◽  
Zorica D. Marinkovié

Abstract The perforating branches of the internal carotid artery (ICA) were examined in 30 forebrain hemispheres. These branches were present in all the cases studied, and varied from 1 to 6 in number (mean, 3.1). Their diameters ranged from 70 to 470 Mm (mean, 243 Mm). The perforating branches arose from the choroidal segment of the ICA, that is, from its caudal surface (52.3%), caudolateral surface (34.1%), or caudomedial surface (13.6%). They rarely originated from the bifurcation point of the ICA (10%). The distance of the remaining 90% of the perforators from the summit of the ICA measured between 0.6 and 4.6 mm. The perforating branches most often originated as individual vessels, and less frequently from a common stem with another vessel or by sharing the same origin site with another perforator or with the anterior choroidal artery. The bifurcation of the ICA, which is a frequent site for cerebral aneurysms, is surrounded by many perforating branches. Hence, great care must be taken to avoid damage to these important vessels during operations in that region.


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