セキグチ　ハルキ   SEKIGUCHI Haruki   関口　治樹    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
言語種別	日本語
発表タイトル	Aortic Valve Calcification and Subclinical Coronary Atherosclerosis in Japanese Heterozygous Familial Hypercholesterolemia Patients with Gene Mutation
会議名	第83回日本循環器学会学術集会
主催者	日本循環器学会
学会区分	全国規模の学会
発表形式	ポスター掲示
講演区分	一般
発表者・共同発表者	◎山本恵理, 坂井晶子, 阿部拓朗, 関口治樹, 長尾充展, 佐藤加代子, 萩原誠久
発表年月日	2019/03/31
開催地 （都市, 国名）	横浜市
概要	*Poster Session (Japanese)100 Lipid/Kidney Introduction: Heterozygous familial hypercholesterolemia (HeFH) is caused by mutations of FH genes. On the other hand, aortic valve calcification (AVC) is associated with an elevated risk of cardiovascular events.Objectives: We investigated whether AVC associated with the coronary plaque morphology in HeFH patients with gene mutation.Methods: We enrolled 106 patients included 63 HeFH, 22 suspected of HeFH, (s/o HeFH) and 21 hypercholesterolemia (DL). We evaluated RHI, ABI, PWV, IMT and lipid profile, such as ApoB, oxidized LDL, RLP-C, Lp(a). AVC, AVC score, and coronary artery plaque score (CAPS) were examined by 320 detector row CT. The genotypes were analyzed using Illumina Mi-seq sequencer.Results: AVC was detected more frequently and AVC score was higher in HeFH patients. In addition, AVC score was significantly associated with CAPS (R=0.58, p<0.01). AVC score and CAPS in FH patients with the history of CAD was significantly higher than that in patients without (P=0.005). Furthermore, 22 patients (36.7%) with HeFH had gene mutations of LDLR and PCSK9. HeFH patients with LDLR or PCSK9 mutation had high AVC score and CAPS. Conclusions: The AVC score was related to coronary plaque morphology in HeFH patients, especially with LDLR or PCSK9 mutation. The genetic diagnosis of HeFH is very helpful to assess severity of coronary atherosclerosis and to determine the treatment strategy for preventing the future cardiovascular events.