A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection.

Published in: Neurological research and practice (2023)

The familial case expands the phenotype of the detected ACTA2 variant p.Arg198Cys and hereby broadens the range of ACTA2 variants associated with a cerebral arteriopathy. Further, it emphasizes the importance of an interdisciplinary approach of vasculopathies.

Keyphrases

aortic dissection
aortic aneurysm
early onset
copy number
subarachnoid hemorrhage
intellectual disability
middle cerebral artery
cerebral ischemia
cerebral blood flow
blood flow