Takayasu's disease is an idiopathic inflammatory arteriopathy involving the aorta and its main branches. Symptoms are related to vascular insufficiency of affected organs, especially the brain, eye, heart and kidneys. Major ocular complications consist of ischaemic retinopathy, complicated cataract and neovascular glaucoma. The definite diagnosis can be established by carotid doppler study or a...

Clinically, there is a group of patients with elevated pulmonary arterial pressure in whom the underlying cause is not apparent. The pulmonary arterial wedge pressure is not elevated. For such cases, the designation of primary pulmonary hypertension may be made clinically. From the clinical categorization of primary pulmonary hypertension, three distinct pathologic entities emerge, namely 1) pl...

We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the ...

In a 37 year-old woman with Takayasu's arteriopathy angiography revealed occlusion of right coronary artery (RCA), brachiocephalic trunk and left carotid artery (LCA), as well as aortic regurgitation. She underwent a complex cardiovascular surgery consisting of aortic valve implantation, RCA grafting and implantation of vascular bifurcated graft anastomosed between ascending aorta and brachioce...

BACKGROUND AND PURPOSE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease causing stroke and dementia. The disease is caused by highly stereotyped mutations in NOTCH3, which is restrictively expressed in vascular smooth muscle cells (VSMCs). The mechanisms of compromised cerebral hemodynamics in CADASIL remai...

The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neura...