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

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 medi...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792481/
https://www.ncbi.nlm.nih.gov/pubmed/29386531
http://dx.doi.org/10.1038/s41598-018-20114-9
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author 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
author_facet 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
author_sort Tobita, Takashige
collection PubMed
description 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.
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spelling pubmed-57924812018-02-12 Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling 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 Sci Rep Article 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. Nature Publishing Group UK 2018-01-31 /pmc/articles/PMC5792481/ /pubmed/29386531 http://dx.doi.org/10.1038/s41598-018-20114-9 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
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
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title_full Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title_fullStr Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title_full_unstemmed Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title_short Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
title_sort genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792481/
https://www.ncbi.nlm.nih.gov/pubmed/29386531
http://dx.doi.org/10.1038/s41598-018-20114-9
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