Can Moyamoya Disease Susceptibility Gene Affect Extracranial Systemic Artery Stenosis?


Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset. We report a case of a unique Japanese pedigree associated with RNF213. A 53-year-old woman with no arteriosclerotic risk factors experienced coronary artery disease, followed by coronary artery bypass surgery. In 8 years, she suffered sudden abdominal pain.


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