2022 Volume 62 Issue 10 Pages 89-95
Peripheral pulmonary artery stenosis (PPS) is a narrowing in one or more of the branches of pulmonary arteries, and is necessary to distinguish from pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. PPS is classified as group 5 in the NICE classification of pulmonary hypertension (2013) and there are increasing reports of adult patients with isolated PPS, not associated with congenital heart diseases. Recently, a variant of c.14429G>A (p.Arg4810Lys, rs112735431) in the Ring Finger Protein 213 (RNF213) gene, a well-known susceptibility gene for Moyamoya disease, has been also reported to link the onset and progression of the various vascular diseases including PPS, renal artery stenosis, and intracranial major artery stenosis/occlusion, and the risk of ischemic stroke attributable to large-artery atherosclerosis. In this report, we summarize this new concept of “RNF213 vasculopathy”, which should be paid more attention to because that ～1% of Japanese subjects carry this p.Arg4810Lys variant and genetic testing of RNF213 might be useful to identify and manage high-risk patients and/or family members for multiple vascular diseases.
