P6009Poor outcomes in pulmonary arterial hypertension as a member of RNF213-associated vascular diseases

Background A variant of c.14429G>A (p.Arg4810Lys, rs112735431) in the ring finger protein 213 gene (RNF213; NM_001256071.2) has been recently identified as a risk allele for pulmonary arterial hypertension (PAH), suggesting that PAH can be added as a new member of RNF213-associated vascular diseases including Moyamoya disease and peripheral pulmonary stenosis. Purpose Our aim was to identify the clinical features and outcomes of PAH patients...