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Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies

European Journal of Human Genetics volume 31, pages 735–737 (2023)Cite this article

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Comment on: Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N. The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. Eur J Hum Genet. 2023 Apr 4. https://doi.org/10.1038/s41431-023-01320-0. Epub ahead of print. PMID: 37012328.

Moyamoya is a progressive steno-occlusive arteriopathy that affects the distal internal carotid arteries and its proximal branches. It is named for the appearance of the collaterals that bypass the stenosis and remains one of the leading causes of stroke in children. Isolated or primary moyamoya arteriopathy is called moyamoya disease (MMD) while moyamoya arteriopathy associated to another condition such as neurofibromatosis type 1 (NF1) or sickle cell disease (SCD) is called moyamoya syndrome (MMS). Antiplatelets and revascularization surgery are the mainstay of its management. However, with wider availability of neuroimaging, identification of asymptomatic cases of moyamoya arteriopathy (MMA) has significantly increased in recent years resulting in a dilemma regarding the indication and the timing of revascularization surgery in these patients. Genotype-phenotype correlation studies are consequently of particular importance to stratify such patients based on the severity and the rate of disease progression, and ischemic risk.

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Fig. 1: Approach to extracranial vascular involvement screening in moyamoya patients.

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Authors and Affiliations

  1. Division of Neurology, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada

    M. L. Kaseka

  2. Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    N. Dlamini

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Conceptualization: MLK, ND; Supervision: ND; Writing – original draft: MLK; Write – review & editing: MLK, ND.

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Correspondence to M. L. Kaseka or N. Dlamini.

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Kaseka, M.L., Dlamini, N. Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies. Eur J Hum Genet 31, 735–737 (2023). https://doi.org/10.1038/s41431-023-01369-x

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