Tsuyoshi Shiga    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Visiting Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.
Journal	Formal name：Scientific reports Abbreviation：Sci Rep ISSN code：20452322
Domestic / Foregin	Foregin
Publisher	Nature Research
Volume, Issue, Page	8(1),pp.1998
Author and coauthor	Tobita Takashige†, Nomura Seitaro, Fujita Takanori, Morita Hiroyuki, Asano Yoshihiro, Onoue Kenji, Ito Masamichi, Imai Yasushi, Suzuki Atsushi, Ko Toshiyuki, Satoh Masahiro, Fujita Kanna, Naito Atsuhiko T, Furutani Yoshiyuki, Toko Haruhiro, Harada Mutsuo, Amiya Eisuke, Hatano Masaru, Takimoto Eiki, Shiga Tsuyoshi, Nakanishi Toshio, Sakata Yasushi, Ono Minoru, Saito Yoshihiko, Takashima Seiji, Hagiwara Nobuhisa, Aburatani Hiroyuki*, Komuro Issei*
Publication date	2018/01
Summary	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.
DOI	10.1038/s41598-018-20114-9
PMID	29386531