| Title: |
Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts |
| Authors: |
Keiichi Hirono; Yukiko Hata; Shojiro Ichimata; Naoki Nishida; Teruhiko Imamura; Yoshihiro Asano; Yuki Kuramoto; Kaori Tsuboi; Shinya Takarada; Mako Okabe; Hideyuki Nakaoka; Keijiro Ibuki; Sayaka Ozawa; Jun Muneuchi; Kazushi Yasuda; Kotaro Urayama; Hideharu Oka; Tomoyuki Miyamoto; Kenji Baba; Akio Kato; Hirofumi Saiki; Naoki Kuwabara; Masako Harada; Shiro Baba; Mari Morikawa; Hidenori Iwasaki; Yuichiro Hirata; Yuki Ito; Heima Sakaguchi; Susumu Urata; Koichi Toda; Emi Kittaka; Seigo Okada; Yohei Hasebe; Shinsuke Hoshino; Takanari Fujii; Norie Mitsushita; Masaki Nii; Kayo Ogino; Mitsuhiro Fujino; Yoko Yoshida; Yutaka Fukuda; Satoru Iwashima; Kiyohiro Takigiku; Yasushi Sakata; Ryo Inuzuka; Jun Maeda; Yasunobu Hayabuchi; Tao Fujioka; Hidemasa Namiki; Shuhei Fujita; Koichi Nishida; Ayako Kuraoka; Nobuhiko Kan; Sachiko Kido; Ken Watanabe; Fukiko Ichida |
| Source: |
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024) |
| Publisher Information: |
Nature Portfolio, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Medicine; LCC:Science |
| Subject Terms: |
Dilated cardiomyopathy; Heart failure; Genetics; Sarcomere gene; Left ventricular reverse remodeling; Medicine; Science |
| Description: |
Abstract Dilated cardiomyopathy (DCM) is a progressive myocardial disorder characterized by impaired cardiac contraction and ventricular dilation. However, some patients with DCM improve when experiencing left ventricular reverse remodeling (LVRR). Currently, the detailed association between genotypes and clinical outcomes, including LVRR, particularly among children, remains uncertain. Pediatric patients with DCM from multiple Japanese institutions recorded between 2014 and 2023 were enrolled. We identified their DCM-related genes and explored the association between gene variants and clinical outcomes, including LVRR. We included 123 pediatric patients (62 males; median age: 8 [1–51] months) and found 50 pathogenic variants in 45 (35.0%) of them. The most identified gene was MYH7 (14.0%), followed by RYR2 (12.0%) and TPM1 (8.0%). LVRR was achieved in 47.5% of these patients. The left ventricular ejection fraction remained unchanged (31.4% to 39.8%, P = 0.1913) in patients with sarcomere gene variants and in those with non-sarcomere gene variants (33.4% to 47.8%, P = 0.0522) but significantly increased in those without gene variants (33.6% to 54.1%, P |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2045-2322 |
| Relation: |
https://doaj.org/toc/2045-2322 |
| DOI: |
10.1038/s41598-024-77360-3 |
| Access URL: |
https://doaj.org/article/aac3eb7b9b514bfd921635a1feb0eb9f |
| Accession Number: |
edsdoj.3eb7b9b514bfd921635a1feb0eb9f |
| Database: |
Directory of Open Access Journals |