Abstract
Objectives
Mutations 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.
Methods
A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution
MRI.
Results
A 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.
Keywords
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References
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Article info
Publication history
Published online: January 06, 2023
Accepted:
December 7,
2022
Received in revised form:
November 28,
2022
Received:
June 10,
2022
Identification
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2022.106938
Copyright
© 2022 Elsevier Inc. All rights reserved.
