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. 2024 Feb 18;10(4):e26108.
doi: 10.1016/j.heliyon.2024.e26108. eCollection 2024 Feb 29.

Clinical and genetic factors associated with contralateral progression in unilateral moyamoya disease: Longitudinal and Cross-Sectional Study

Xiao-Peng Wang  1   2 , Zheng-Xing Zou  2 , Xiang-Yang Bao  1   2 , Qian-Nan Wang  3 , Bin Ren  2 , Dan Yu  4 , Qian Zhang  4 , Jia-Qi Liu  5 , Fang-Bin Hao  1   2 , Gan Gao  1   2 , Qing-Bao Guo  1   2 , He-Guan Fu  4 , Jing-Jie Li  1   2 , Min-Jie Wang  1   2 , Si-Meng Liu  1   2 , Lian Duan  1   2
Affiliations

Clinical and genetic factors associated with contralateral progression in unilateral moyamoya disease: Longitudinal and Cross-Sectional Study

Xiao-Peng Wang et al. Heliyon. .

Abstract

Objective: This study aimed to explore the long-term outcome of unilateral moyamoya disease and predict the clinical and genetic factors associated with contralateral progression in unilateral moyamoya disease.

Methods: We retrospectively recruited unilateral moyamoya disease patients with available genetic data who underwent encephaloduroarteriosynangiosis (EDAS) surgery at our institution from January 2009 to November 2017. Long-term follow-up data, including clinical outcomes, angiographic features, and genetic information, were analyzed.

Results: A total of 83 unilateral moyamoya disease patients with available genetic data were enrolled in our study. The mean duration of clinical follow-up was 7.9 ± 2.0 years. Among all patients, 19 patients demonstrated contralateral progression to bilateral disease. Heterozygous Ring Finger Protein 213 p.R4810K mutations occurred significantly more frequently in unilateral moyamoya disease patients with contralateral progression. Furthermore, patients with contralateral progression typically demonstrated an earlier age of onset than those with non-progressing unilateral moyamoya disease. In the contralateral progression group, posterior circulation involvement was observed in 11 (11/19, 57.9%) patients compared to 12 (12/64, 18.8%) in the non-contralateral progression group (P = 0.001). The time to peak of cerebral perfusion and neurological status showed significant postoperative improvement.

Conclusion: Long-term follow-up revealed that the EDAS procedure might provide benefits for unilateral moyamoya disease patients. Ring Finger Protein 213 p.R4810K mutations, younger age, and posterior circulation involvement might predict the contralateral progression of unilateral moyamoya disease.

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Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests:Lian Duan reports article publishing charges was provided by National Natural Science Foundation of China. Qian-Nan Wang reports article publishing charges was provided by National Natural Science Foundation of China. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
The flow diagram of enrollment.
Fig. 2
Fig. 2
Age distribution of unilateral moyamoya disease patients.
Fig. 3
Fig. 3
A pediatric unilateral MMD patient. The right internal carotid artery (RICA) was normal (A, black arrow), the Suzuki stage of the left internal carotid artery (LICA) was IV (B, white arrow) on initial admission in 2016, and the left external carotid artery (LECA, red circle) was pre-operative (C). Emission computed tomography (ECT) showed hypoperfusion in the left hemisphere (D) pre-operatively. The RICA was impaired with occlusion of the middle cerebral artery (MCA) and stenosis of the anterior cerebral artery (ACA) (a, black arrow) and attenuation of moyamoya vessels in LICA (b, white arrow) in 2019, post-operative LECA (c, red circle) showed excellent compensatory collaterals and postoperative ECT (d, white circle) showed improvement of perfusion in the left hemisphere postoperatively compared to preoperative status (D, white circle).
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