Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G&gt;A

Fukushima, Yuta; Miyawaki, Satoru; Inoue, Tomohiro; Shimizu, Satoshi; Yoshikawa, Gakushi; Imai, Hideki; Saito, Nobuhito; Tsutsumi, Kazuo

doi:10.4103/2152-7806.153709

Cited by 12 publications

(8 citation statements)

References 23 publications

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“…ischemic strokes [41], CCM [10] and intracranial aneurysms [42]. Previously studies suggest that pericytes loss and degeneration are also correlated with CCM [25], strokes [27], and intracranial microaneurysms [29].…”

Section: Discussionmentioning

confidence: 96%

Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse

Niu

Dai

et al. 2023

Mol Neurobiol

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Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery and the formation of an abnormal compensatory capillary network at the base of the brain. Genomics studies identi ed Ring nger protein 213 (RNF213) as a common genetic factor that increases the susceptibility to MMD in East Asian people. However, the function of RNF213 and its roles in pathogenesis of MMD is unclear. Here, we showed that genetic knockout of Rnf213 in mice causes signi cant pericytes reduction and blood-brain barrier impairment in the cortex. These phenotypes are accompanied with microglia activation and elevated level of proin ammatory cytokines. Additionally, Rnf213 de cient mice showed reduced expression of tight junction proteins, including Occludin, Claudin-5 and ZO-1. Together, these data suggested that RNF213 might contribute to the pathogenesis of MMD through disruption of pericyte homeostasis and blood-brain barrier integrity by dysregulation of in ammatory responses and tight junction formation.

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Section: Discussionmentioning

confidence: 96%

Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse

Niu

Dai

et al. 2023

Mol Neurobiol

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“… 3 , 5 , 8 They have been predominantly reported in end-to-side anastomosis and presumed to be potentially associated with factors such as hemodynamic stress at the anastomosis site, infection, genetic predisposition, surgical technique, injury to the vessel wall, and arterial hypertension. 2 , 3 , 7 , 8 Pseudoaneurysms have been seen to arise at the anastomotic site during the early postoperative period, whereas true aneurysms typically form within several months and even years in the areas distal to the anastomosis. 3 The majority of reported EC-IC bypass-associated aneurysms have occurred in cases of STA-MCA bypass near the anastomotic site and have typically been managed by clipping, clip reconstruction, or resection/reanastomosis given the lack of data on the natural history of these aneurysms.…”

Section: Discussionmentioning

confidence: 99%

“… 3 The majority of reported EC-IC bypass-associated aneurysms have occurred in cases of STA-MCA bypass near the anastomotic site and have typically been managed by clipping, clip reconstruction, or resection/reanastomosis given the lack of data on the natural history of these aneurysms. 2 , 7 …”

Section: Discussionmentioning

confidence: 99%

Spontaneous development and involution of a de novo pseudoaneurysm at the superficial temporal artery–middle cerebral artery bypass anastomotic site in a patient with moyamoya disease: illustrative case

Ravina,

Patel,

Yim

2024

Journal of Neurosurgery: Case Lessons

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BACKGROUND De novo pseudoaneurysm formation is a rare complication of extracranial-intracranial bypass surgery. OBSERVATIONS The authors report the case of a 28-year-old male who presented with new-onset right temporal and occipital ischemia who was found to have bilateral proximal internal carotid artery occlusion with collateral vasculature formation consistent with moyamoya disease. The patient underwent bilateral superficial temporal artery–middle cerebral artery bypasses. A de novo pseudoaneurysm was found at the left-sided bypass distal anastomotic site recipient vessel 1 month after the surgery. The pseudoaneurysm demonstrated a progressive reduction in size and eventual complete involution at 6 months after surgery. LESSONS Limited literature reports extracranial-intracranial bypass-associated aneurysms treated primarily with either clipping or resection and reanastomosis. The authors demonstrate, for the first time, a progressively benign natural history course of an extracranial-intracranial bypass distal anastomotic site pseudoaneurysm.

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“…Furthermore, we focused on these p.R4859K polymorphisms 28 as susceptibility genes for systemic vascular diseases. The p.R4859K polymorphisms have been reported in Japanese patients with combined MMD and peripheral pulmonary artery stenosis 29 , pulmonary vasculopathy 17 , cerebral aneurysm development 30 , CADASIL 31 , and reversible cerebral angiopathy 32 .…”

Section: Discussionmentioning

confidence: 99%

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia

Murai

Ishisaka

Watanabe

et al. 2021

Sci Rep

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The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia—rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.

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Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G>A

Cited by 12 publications

References 23 publications

Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse

Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse

Spontaneous development and involution of a de novo pseudoaneurysm at the superficial temporal artery–middle cerebral artery bypass anastomotic site in a patient with moyamoya disease: illustrative case

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia

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