Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling

被引：105

作者：

Tobita, Takashige ^{[1
,2
]}

Nomura, Seitaro ^{[3
,4
]}

Fujita, Takanori ^{[3
]}

Morita, Hiroyuki ^{[4
]}

Asano, Yoshihiro ^{[5
]}

Onoue, Kenji ^{[6
]}

Ito, Masamichi ^{[4
]}

Imai, Yasushi ^{[7
]}

Suzuki, Atsushi ^{[1
]}

Ko, Toshiyuki ^{[4
]}

Satoh, Masahiro ^{[8
]}

Fujita, Kanna ^{[4
]}

Naito, Atsuhiko T. ^{[4
]}

Furutani, Yoshiyuki ^{[9
]}

Toko, Haruhiro ^{[4
]}

Harada, Mutsuo ^{[4
]}

Amiya, Eisuke ^{[4
]}

Hatano, Masaru ^{[4
]}

Takimoto, Eiki ^{[4
]}

Shiga, Tsuyoshi ^{[1
]}

Nakanishi, Toshio ^{[9
]}

Sakata, Yasushi ^{[5
]}

Ono, Minoru ^{[10
]}

Saito, Yoshihiko ^{[6
]}

Takashima, Seiji ^{[11
]}

Hagiwara, Nobuhisa ^{[1
]}

Aburatani, Hiroyuki ^{[3
]}

Komuro, Issei ^{[4
]}

机构：

[1] Tokyo Womens Med Univ, Dept Cardiol, Tokyo, Japan

[2] Japan Soc Promot Sci, Tokyo, Japan

[3] Univ Tokyo, Res Ctr Adv Sci & Technol, Genome Sci Div, Tokyo, Japan

[4] Univ Tokyo, Grad Sch Med, Dept Cardiovasc Med, Tokyo, Japan

[5] Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Osaka, Japan

[6] Nara Med Univ, Dept Internal Med 1, Kashihara, Nara, Japan

[7] Jichi Med Univ, Div Cardiovasc Med, Shimotsuke, Japan

[8] Chiba Univ, Grad Sch Med, Dept Cardiovasc Med, Chiba, Japan

[9] Tokyo Womens Med Univ, Dept Pediat Cardiol, Tokyo, Japan

[10] Univ Tokyo, Grad Sch Med, Dept Cardiovasc Surg, Tokyo, Japan

[11] Osaka Univ, Grad Sch Med, Dept Med Biochem, Osaka, Japan

来源：

SCIENTIFIC REPORTS | 2018年 / 8卷

关键词：

ASSOCIATION TASK-FORCE; HYPERTROPHIC CARDIOMYOPATHY; ACCF/AHA GUIDELINE; HEART-FAILURE; MUTATIONS; SOCIETY; PREDICTORS; MANAGEMENT; NATIONWIDE; DIAGNOSIS;

D O I：

10.1038/s41598-018-20114-9

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：11

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