PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
CONCLUSIONS: 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.
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.
CONCLUSIONS: 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.
摘要：
目的：MYH11基因突变导致平滑肌细胞功能障碍，并与家族性胸主动脉瘤和夹层有关。我们描述了患有中风和致病性MYH11IVS32G>A突变的儿科患者，和类似于ACTA2的表型。
方法：一名患有急性缺血性卒中的先证者女孩接受了基因分析和7T高分辨率MRI检查。
结果：一名12岁女孩出现右侧大脑中动脉闭塞。她接受了溶栓治疗并接受了机械血栓切除术。广泛的中风检查是阴性的。一个三代谱系显示先证者和另外三个家族成员的MYH11IVS32G>A的剪接位点突变。7T-MRI显示远端动脉段“扫帚状”拉直，一个V形前体和一个中风后脑软化的囊性区域。这种血管外观和实质异常通常存在于具有ACTA2表型的患者中。7T-MRI也显示右侧大脑中动脉壁增厚。
结论：本病例提示MYH11患者可能具有与ACTA2突变患者相似的血管造影和脑实质表型。这是使用7T-MRI在MYH11中风患者中动脉壁增厚的第一份报告。MYH11突变患者可能表现为局灶性脑狭窄闭塞性动脉病，可能导致中风。
方法：一名患有急性缺血性卒中的先证者女孩接受了基因分析和7T高分辨率MRI检查。
结果：一名12岁女孩出现右侧大脑中动脉闭塞。
结论：本病例提示MYH11患者可能具有与ACTA2突变患者相似的血管造影和脑实质表型。
