J Stroke Cerebrovasc Dis
March 2023
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.