Nonsyndromic Peripheral Pulmonary Artery Stenosis Is Associated With Homozygosity of RNF213 p.Arg4810Lys Regardless of Co-occurrence of Moyamoya Disease

PPAS in segmental or subsegmental arteries in adulthood with multiple extracranial vasculopathies was found to be associated with homozygosity for RNF213 p.Arg4810Lys. RNF213 variant-associated vasculopathy should be categorized as a discrete disease entity of adulthood-onset PPAS regardless of the presence of MMD.