Abstract
Purpose
Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya patients given the current pre-test probability.
Methods
All pediatric moyamoya patients who received revascularization surgery at one institution between 2018 and 2022 were retrospectively reviewed. Patients with previously diagnosed moyamoya syndromes or therapeutic cranial radiation were excluded.
Results
Of 117 patients with moyamoya, 74 non-syndromic patients (44 females, 59%) were eligible. The median age at surgery was 8.1 years. Neurosurgeons referred 18 (24%) patients for neurogenetic evaluation. Eleven (61%) patients subsequently underwent genetic testing. Eight (73%) patients had available testing results. Five (62.5%) of these patients had developmental delay compared to 16 (22%) of the entire cohort. Six (75%) patients who underwent genetic testing were found to have at least one genetic variant. These results led to diagnosis of a new genetic disorder for 1 (12.5%) patient and screening recommendations for 2 (25%) patients. An RNF213 variant in one patient led to recommendations for family member screening and pulmonary hypertension screening. Another patient was diagnosed with CBL disorder and referred for cancer screening. The median age at surgery in patients with clinically actionable findings was 4.6 years compared to 9.2 years in those who were referred for genetic testing. All 3 patients who had an actionable finding had developmental delay.
Conclusion
It may be beneficial to refer moyamoya patients under 5 for genetic screening given the high likelihood of discovering actionable mutations.
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Data availability
The datasets generated and analyzed during the current study are not publicly available in order to protect study participant privacy.
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Conception and design of study: ALS, LLL, ERS, SS, APS. Acquisition of data: ALS, SS. Data analysis and interpretation: ALS, DSK, SS, APS. Drafting the article: ALS, DSK. Critical revision of the article: ALS, DSK, LLL, ERS, SS, APS. Final approval of the version to be published: ALS, DSK, LLL, ERS, SS, APS.
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This study protocol was reviewed and approved by our local Institutional Review Board (IRB), protocol approval number IRB-P00041791.
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Slingerland, A.L., Keusch, D.S., Lehman, L.L. et al. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Childs Nerv Syst 40, 801–808 (2024). https://doi.org/10.1007/s00381-023-06167-w
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DOI: https://doi.org/10.1007/s00381-023-06167-w