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Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease.
- Source :
-
Journal of the American Heart Association [J Am Heart Assoc] 2020 Oct 20; Vol. 9 (19), pp. e016670. Date of Electronic Publication: 2020 Sep 21. - Publication Year :
- 2020
-
Abstract
- Background RNF213 is a major susceptibility gene for moyamoya disease (MMD), characterized by chronic progressive steno-occlusion of the intracranial arteries. However, coincidental extracranial arteriopathy is sporadically described in a few cases and in children with MMD. Methods and Results This study prospectively enrolled 63 young adults (aged 20-49 years) 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 RNF213 p.Arg4810Lys variation (c.14429G>A, rs112735431). Altogether, 11 of 63 patients (17%) had significant (>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 RNF213 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; P =0.035; adjusted odds ratio, 4.57; 95% CI, 1.11-27.20). Conclusions Young adults with MMD may have concomitant extracranial arteriopathy in various locations. Patients with RNF213 variants, especially the p.Arg4810Lys homozygous variant, should be screened for systemic arteriopathy.
- Subjects :
- Adult
Coronary Vessels diagnostic imaging
Coronary Vessels pathology
Female
Genetic Testing methods
Genetic Variation
Homozygote
Humans
Male
Mesenteric Arteries diagnostic imaging
Mesenteric Arteries pathology
Middle Aged
Polymorphism, Single Nucleotide
Renal Artery diagnostic imaging
Renal Artery pathology
Republic of Korea epidemiology
Adenosine Triphosphatases genetics
Arterial Occlusive Diseases diagnosis
Arterial Occlusive Diseases epidemiology
Arterial Occlusive Diseases genetics
Computed Tomography Angiography methods
Moyamoya Disease diagnosis
Moyamoya Disease epidemiology
Moyamoya Disease genetics
Moyamoya Disease physiopathology
Ubiquitin-Protein Ligases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2047-9980
- Volume :
- 9
- Issue :
- 19
- Database :
- MEDLINE
- Journal :
- Journal of the American Heart Association
- Publication Type :
- Academic Journal
- Accession number :
- 32954918
- Full Text :
- https://doi.org/10.1161/JAHA.120.016670