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

Yuta Fukushima,Tomohiro Inoue,Satoru Miyawaki,Seiichiro Shimizu,Hideaki Imai,Kazuo Tsutsumi,Nobuhito Saito,Gakushi Yoshikawa

doi:10.4103/2152-7806.153709

Abstract

Background:De novo aneurysm formation after intracranial anastomotic surgery is a relatively rare complication with fewer than 20 reported cases, and the mechanism is still unclear.Case Description:A 63-year-old male treated for symptomatic internal carotid artery occlusion developed de novo aneurysms twice after anastomoses first of the superficial temporal artery-middle cerebral artery and second of the external carotid artery-radial artery-middle cerebral artery over a 10-year period. The first de novo aneurysm was successfully resected with pathological diagnosis of true aneurysm. The second de novo aneurysm thrombosed naturally after gradual growth. Genetic testing of the patient revealed the c.14576G>A (p.R4859K) variant in ring finger protein 213, which is a susceptibility gene for moyamoya disease.Conclusions:This genetic variant was probably involved in the repeated de novo aneurysm formation, and this case represents a rare phenotype of the genetic variant.

Highlights

ConclusionsThis genetic variant was probably involved in the repeated de novo aneurysm formation, and this case represents a rare phenotype of the genetic variant
De novo aneurysm formation after intracranial anastomotic surgery is a relatively rare complication with fewer than 20 reported cases, and the mechanism is still unclear.Case Description: A 63‐year‐old male treated for symptomatic internal carotid artery occlusion developed de novo aneurysms twice after anastomoses first of the superficial temporal artery‐middle cerebral artery and second of the external carotid artery‐radial artery‐middle cerebral artery over a 10‐year period
External carotid artery (ECA)‐internal carotid artery (ICA) anastomosis is a well‐established surgical procedure for the treatment of ischemic cerebrovascular disease such as moyamoya disease (MMD), and giant cerebral aneurysms combined with major artery ligation.[1,2,8]

Summary

Conclusions

This genetic variant was probably involved in the repeated de novo aneurysm formation, and this case represents a rare phenotype of the genetic variant. DSA performed 2.5 years after anastomosis (at the age of 66) revealed a 19.0‐mm de novo saccular aneurysm at the anastomotic site [Figure 1f]. The left MCA territory was perfused mainly via the anastomosed STA, whereas cross flow via the anterior communicating artery, which had been detected immediately after anastomosis, had disappeared He was scheduled for surgical intervention because the aneurysm was considered to be at high risk of rupture. Follow‐up MR angiography for 3 years showed that the dilatation enlarged gradually and became a 12.0‐mm saccular aneurysm at the nonbranching site [Figure 4c‐e].

Findings

DISCUSSION

CONCLUSION