{Reference Type}: Case Reports
{Title}: Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.
{Author}: Raghuram A;Sanchez S;Lu Y;Hickerson M;Mayorga MBS;Romero JM;Matsumoto S;Musolino PL;Samaniego EA;
{Journal}: J Stroke Cerebrovasc Dis
{Volume}: 32
{Issue}: 3
{Year}: Mar 2023
{Factor}: 2.677
{DOI}: 10.1016/j.jstrokecerebrovasdis.2022.106938
{Abstract}: <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.