ハギワラ　ノブヒサ   HAGIWARA Nobuhisa   萩原　誠久    所属   医学部 医学科（東京女子医科大学病院）    職種   客員教授
言語種別	英語
発表タイトル	Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
会議名	26th Annual Meeting of the International Society for Mechanical Circulatory Support (ISMCS2018)
主催者	ISMCS2018
学会区分	国際学会及び海外の学会
発表形式	口頭
講演区分	一般
発表者・共同発表者	NOMURA Seitaro, TOBITA Takashige, FUJITA Takanori, MORITA Hiroyuki, HATANO Masaru, ONO Minoru, HAGIWARA Nobuhisa, ABURATANI Hiroyuki, KOMURO Issei
発表年月日	2018/11/01
開催地 （都市, 国名）	Tokyo, JAPAN
学会抄録	Abstract Book 96
概要	Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically heterogeneous. Cardiac function is improved after treatment in some cardiomyopathy patients, but little is known about genetic predictors of long-term outcomes and myocardial recovery following medical treatment. To elucidate the genetic basis of cardiomyopathy in Japan and the genotypes involved in prognosis and left ventricular reverse remodeling (LVRR), we performed targeted sequencing on 120 DCM (70 sporadic and 50 familial) and 52 HCM (15 sporadic and 37 familial) patients and integrated their genotypes with clinical phenotypes. Among the 120 DCM patients, 20 (16.7%) had TTN truncating variants and 13 (10.8%) had LMNA variants. TTN truncating variants were the major cause of sporadic DCM (21.4% of sporadic cases) as with Caucasians, whereas LMNA variants, which include a novel recurrent LMNA E115M variant, were the most frequent in familial DCM (24.0% of familial cases) unlike Caucasians. Of the 52 HCM patients, MYH7 and MYBPC3 variants were the most common (12 (23.1%) had MYH7 variants and 11 (21.2%) had MYBPC3 variants) as with Caucasians. DCM patients harboring TTN truncating variants had better prognosis than those with LMNA variants. Most patients with TTN truncating variants achieved LVRR, unlike most patients with LMNA variants. We will introduce a novel method to analyze the pathogenesis of cardiomyopathy using single-cardiomyocyte RNA-seq.