ArticleJournal of stroke and cerebrovascular diseases : the official journal of National Stroke Association2023
Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.
Article in Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease.Journal of neurology · 2026Article
- MYH11 variants in thoracic aortic aneurysm pathophysiology: From bench to bedside.European journal of clinical investigation · 2026Review
- Identification of Biomarkers Associated With Copper Metabolism in Ischemic Stroke Through Bulk RNA Sequencing and Mendelian Randomization Analysis.Cellular and molecular neurobiology · 2026Article
- Management of Myosin Heavy Chain 11-Associated Familial Thoracic Aortic Aneurysm and Dissection During Pregnancy in Two Siblings.Aorta (Stamford, Conn.) · 2025Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
objectivesMutations in the MYH11 gene result in smooth muscle cell dysfunction and are associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric patient with a stroke and a pathogenic MYH11 IVS32G>A mutation, and a phenotype similar to ACTA2.
methodsA proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI.
resultsA 12-year-old girl presented with a right middle cerebral artery occlusion. She received thrombolysis and underwent mechanical thrombectomy. An extensive stroke work-up was negative. A three-generation pedigree showed a splice site mutation of MYH11 IVS32G>A of the proband and three more family members. A 7T-MRI showed "broomstick-like" straightening of distal arterial segments, a V-shaped anterior corpus callosum and a post-stroke cystic area of encephalomalacia. This vascular appearance and parenchymal abnormalities typically present in patients with an ACTA2 phenotype. 7T-MRI also demonstrated thickening of the right middle cerebral arterial wall. DISCUSSION: This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations. This is the first report of arterial wall thickening in a MYH11 stroke patient using 7T-MRI. Patients with MYH11 mutations may display a focal cerebral steno-occlusive arteriopathy that may lead to stroke.
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