Shared associations of nonatherosclerotic, large-vessel, cerebrovascular arteriopathies

Considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia

Andrew M. Southerland, James F Meschia, Bradford B. Worrall

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

PURPOSE 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).

Original languageEnglish (US)
Pages (from-to)13-28
Number of pages16
JournalCurrent Opinion in Neurology
Volume26
Issue number1
DOIs
StatePublished - Feb 2013

Fingerprint

Fibromuscular Dysplasia
Moyamoya Disease
Intracranial Aneurysm
Dissection
Arteries
Phenotype
Connective Tissue Diseases
Aortic Aneurysm
Genetic Association Studies
Subarachnoid Hemorrhage
Genomics
Vascular Diseases
Blood Vessels
Stroke
Genome
Incidence
Therapeutics
Fibromuscular dysplasia of arteries

Keywords

  • aneurysm
  • arteriopathy
  • artery dissection
  • fibromuscular dysplasia
  • genetic
  • moyamoya

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

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title = "Shared associations of nonatherosclerotic, large-vessel, cerebrovascular arteriopathies: Considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia",
abstract = "PURPOSE 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).",
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