Suzuki Atsushi
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant 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 / ForeginForegin
Publisher Nature Research
Volume, Issue, Page 8(1),1998頁
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