[P1-206] Cerebral angiopathies in patients with ACTA2 mutations
Mutations in ACTA2 are known to cause multisystemic smooth muscle dysfunctions, including cerebrovascular arteriopathy. Here we report on 2 patients with ACTA2 mutations.
Patient 1 had a history of patent ductus arteriosus (PDA) ligation and aneurysm resection of left brachial artery. At age of 13 years, he presented dilatation of Valsalva sinus. He also presented transient left paresis. His MRI revealed reduced diffusion in diffusion-weighted images (DWIs) involving the territories of the right middle cerebral artery (MCA). Magnetic resonance angiography (MRA) also showed narrowing of the right vertebral artery, and dilatation of CAs. After medication for brain infarction, his symptoms improved.
Patient 2 showed poor sucking at age of 4 days, and diagnosed to have PDA. She also had dilatation of ascending aorta, congenital midriasis, dilatation of urinary ducts. Her MRA at age of 6 years showed irregular forms of MCAs. 5 years later, her MRI showed chronic ischemic lesions in parietal lobe although she was asymptomatic. MRA showed dilatation of both CAs and narrowing in the branches.
We performed a targeted high-throughput sequencing of genes and identified heterozygous mutations c.772C>T: p.R258C in patient 1 and c.536G>A: p.R179H in patient 2 in ACTA2, respectively.
Specific features of cerebral images in both cases are confident with previous reports. Molecular analysis and neurovascular investigation are important for the patients suspected with the disorder. This disease includes areas of both vascular narrowing and dilatation, and it is difficult to define general therapy. We also need to consider how to manage the cerebrovascular complications.
Patient 1 had a history of patent ductus arteriosus (PDA) ligation and aneurysm resection of left brachial artery. At age of 13 years, he presented dilatation of Valsalva sinus. He also presented transient left paresis. His MRI revealed reduced diffusion in diffusion-weighted images (DWIs) involving the territories of the right middle cerebral artery (MCA). Magnetic resonance angiography (MRA) also showed narrowing of the right vertebral artery, and dilatation of CAs. After medication for brain infarction, his symptoms improved.
Patient 2 showed poor sucking at age of 4 days, and diagnosed to have PDA. She also had dilatation of ascending aorta, congenital midriasis, dilatation of urinary ducts. Her MRA at age of 6 years showed irregular forms of MCAs. 5 years later, her MRI showed chronic ischemic lesions in parietal lobe although she was asymptomatic. MRA showed dilatation of both CAs and narrowing in the branches.
We performed a targeted high-throughput sequencing of genes and identified heterozygous mutations c.772C>T: p.R258C in patient 1 and c.536G>A: p.R179H in patient 2 in ACTA2, respectively.
Specific features of cerebral images in both cases are confident with previous reports. Molecular analysis and neurovascular investigation are important for the patients suspected with the disorder. This disease includes areas of both vascular narrowing and dilatation, and it is difficult to define general therapy. We also need to consider how to manage the cerebrovascular complications.