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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Takashige Tobita, Seitaro Nomura, Takanori Fujita, Hiroyuki Morita, Yoshihiro Asano, Kenji Onoue, Masamichi Ito, Yasushi Imai, Atsushi Suzuki, Toshiyuki Ko, Masahiro Satoh, Kanna Fujita, Atsuhiko T Naito, Yoshiyuki Furutani, Haruhiro Toko, Mutsuo Harada, Eisuke Amiya, Masaru Hatano, Eiki Takimoto, Tsuyoshi Shiga, Toshio Nakanishi, Yasushi Sakata, Minoru Ono, Yoshihiko Saito, Seiji Takashima, Nobuhisa Hagiwara, Hiroyuki Aburatani, Issei Komuro

ABSTRACT

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. More... »

PAGES

1998

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-018-20114-9

DOI

http://dx.doi.org/10.1038/s41598-018-20114-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100658006

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29386531


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