{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T04:25:44Z","timestamp":1785817544330,"version":"3.56.0"},"reference-count":31,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"19","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2020,10,6]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              <jats:italic>RNF213<\/jats:italic>\n              is a major susceptibility gene for moyamoya disease (MMD), characterized by chronic progressive steno\u2010occlusion of the intracranial arteries. However, coincidental extracranial arteriopathy is sporadically described in a few cases and in children with MMD.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              This study prospectively enrolled 63 young adults (aged 20\u201349\u00a0years) without a known history of systemic vascular diseases who were confirmed to have definite (bilateral, n=54) or probable (unilateral, n=9) MMD, as per typical angiographic findings. Coronary and aorta computed tomography angiography was performed to characterize extracranial arteriopathy and investigate its correlation with clinical characteristics and MMD status, including the\n              <jats:italic>RNF213<\/jats:italic>\n              p.Arg4810Lys variation (c.14429G&gt;A, rs112735431). Altogether, 11 of 63 patients (17%) had significant (&gt;50%) stenosis in the coronary (n=6), superior mesenteric (n=2), celiac (n=2), renal (n=1), and\/or internal iliac artery (n=1). One patient showed both mesenteric and iliac artery stenosis. Patients with extracranial arteriopathy were more likely to have diabetes mellitus and posterior cerebral artery involvement. Moreover, a higher prevalence of extracranial arteriopathy was observed in the presence of the\n              <jats:italic>RNF213<\/jats:italic>\n              p.Arg4810Lys variant (67% in homozygotes). After controlling for diabetes mellitus and posterior cerebral artery involvement, the p.Arg4810Lys variant was independently associated with extracranial arteriopathy (additive model;\n              <jats:italic>P<\/jats:italic>\n              =0.035; adjusted odds ratio, 4.57; 95% CI, 1.11\u201327.20).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Young adults with MMD may have concomitant extracranial arteriopathy in various locations. Patients with\n              <jats:italic>RNF213<\/jats:italic>\n              variants, especially the p.Arg4810Lys homozygous variant, should be screened for systemic arteriopathy.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.120.016670","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T09:29:00Z","timestamp":1600680540000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":33,"title":["Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease"],"prefix":"10.1161","volume":"9","author":[{"given":"Tae Keun","family":"Jee","sequence":"first","affiliation":[{"name":"Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4603-8103","authenticated-orcid":false,"given":"Je 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Medicine Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung\u2010Chyul","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of 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