ReviewDeutsches Arzteblatt international2025
Moyamoya Disease: Pathophysiology, Diagnosis, and Treatment.
Review in Deutsches Arzteblatt international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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Authors and funding
6 authors.
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Abstract
backgroundMoyamoya disease is a cerebrovascular angiopathy that can lead to ischemic and hemorrhagic stroke in both children and adults. Approximately 6 - 10% of all strokes and transient ischemic attacks in childhood are attributable to Moyamoya disease. It is characterized by bilateral stenosis of the intracranial internal carotid arteries, with the formation of collateral vessels. Recent advances in the understanding of genetic causes, pathophysiological mechanisms, and imaging techniques have substantially changed the management of the disease over the past decades.
methodsThis narrative review is based on a literature search in PubMed and Embase on the pathophysiology, diagnosis, clinical course, and treatment of Moyamoya disease. In addition, clinical and experimental data were included from the authors' institution, a specialized center in which more than 500 Moyamoya patients have been treated surgically.
resultsThe pathogenesis of Moyamoya disease is based on a multifactorial interaction of genetic predisposition (particularly, RNF213-mutations) and vascular remodeling processes, with endothelial dysfunction playing a key role. The diagnostic evaluation includes modern imaging techniques (DSA, MRI, PET) and novel classification systems. Surgical revascularization-notably, combined bypass surgery-is currently the most effective therapeutic approach. Long-term postoperative follow-up data from our center show a low complication rate (6.3%) after combined bypass surgery as well as a low postoperative stroke rate. In children, interdisciplinary management is essential, as early diagnosis and timely surgery are crucial for prognosis.
conclusionMoyamoya disease requires specialized diagnosis and treatment. Surgical revascularization is the key therapeutic approach to reduce the risk of stroke. Future research should aim to elucidate the causal mechanisms of the disease and identify strategies for earlier diagnosis.
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