AbstractPurpose of review
With ongoing advancements in noninvasive vascular imaging and high-throughput genomics, we have the opportunity to reclassify the cerebrocervical disorders by these shared associations, rather than their downstream events, and to better understand etiology, mechanism and preventive treatments going forward.Recent findings
The common nonatherosclerotic, large-vessel arteriopathies affecting the cerebrovasculature include intracranial aneurysms, cervical artery dissection, fibromuscular dysplasia and moyamoya disease. Together, these entities contribute to a high incidence of devastating cerebrovascular outcomes, including ischemic stroke and subarachnoid hemorrhage, leading to long-term physical and cognitive disability frequently in young otherwise healthy adults. In addition to well reported clinical overlap, these polygenic phenotypes share epidemiological characteristics, environmental risk and a common pathological weakening of the arterial wall.Summary
We reviewed both past and present studies relating these shared associations, including reported candidate gene analyses and genome-wide association data. We also catalogue recent descriptions of novel arteriopathic syndromes that add to the growing list of monogenic connective tissue disease affecting the arterial wall, and further inform our understanding of more common polygenic phenotypes. We also place these cerebrocervical arteriopathies in the context of other systemic nonatherosclerotic, large-vessel vascular disease (e.g. aortic aneurysm and dissection).