Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

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 < 0.0001). LVRR was not uniform across functional gene groups. Hence, an individualized gene-guided prediction approach may be adopted for children with DCM.

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Journal
Scientific Reports
Published
2024-12-16
DOI
https://doi.org/10.1038/s41598-024-77360-3
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
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article

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Keiichi Hirono, Heima Sakaguchi, Yukiko Hata, Mako Okabe et al.
Scientific Reports
Cardiomyopathy and Myosin Studies
article

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts

Keiichi Hirono, Heima Sakaguchi, Yukiko Hata, Mako Okabe, Kiyohiro Takigiku, Teruhiko Imamura, Yuki Kuramoto, Ken Watanabe, Tomoyuki Miyamoto, Masako Harada, Sayaka Ozawa, Nobuhiko Kan, Jun Muneuchi, Keijiro Ibuki, Kayo Ogino, Naoki Nishida, Susumu Urata, Shinya Takarada, Norie Mitsushita, Jun Maeda, Tao Fujioka, Köichi Toda, Akio Kato, Shinsuke Hoshino, Yoko Yoshida, Yasunobu Hayabuchi, Sachiko Kido, Yoshihiro Asano, Masaki Nii, Ryo Inuzuka, Hirofumi Saiki, Yohei Hasebe, Yasushi Sakata, Mitsuhiro Fujino, Kotaro Urayama, Seigo Okada, Shojiro Ichimata, Kenji Baba, Hideharu Oka, Mari Morikawa, Kazushi Yasuda, Shiro Baba, Fukiko Ichida, Takanari Fujii, Satoru Iwashima, Hidemasa Namiki, Kaori Tsuboi, Hideyuki Nakaoka, Yuichiro Hirata, Yutaka Fukuda, Naoki Kuwabara, Yuki Ito, Shuhei Fujita, Koichi Nishida, Ayako Kuraoka, E Kittaka, Hidenori Iwasaki
article en

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 < 0.0001). LVRR was not uniform across functional gene groups. Hence, an individualized gene-guided prediction approach may be adopted for children with DCM.

Scientific ReportsVol. 14(1)
Nihon University (JP), University of Miyazaki (JP), Asahikawa Medical University (JP), Shiga University of Medical Science (JP), Okayama University (JP), Kanazawa Medical University (JP), Yamaguchi University (JP), Iwate Medical University (JP), Toyama Prefectural Central Hospital (JP), Kurashiki Central Hospital (JP), Ijinkai Takeda General Hospital (JP), Saitama Children's Medical Center (JP), Kyushu University Hospital (JP), Osaka City General Hospital (JP), Fukuoka Children's Hospital and Medical Center for Infectious Diseases (JP), Hiroshima General Hospital (JP), Japanese Red Cross Medical Center (JP), Kanazawa University Hospital (JP), University of Tokyo Hospital (JP), National Cerebral and Cardiovascular Center (JP), Kyushu Hospital (JP), Tokushima University Hospital (JP), Kobe Children's Hospital (JP), National Center For Child Health and Development (JP), Japan Community Healthcare Organization (JP), Gifu Prefectural General Medical Center (JP), Nagano Children's Hospital (JP), Tokyo Metropolitan Children's Medical Center (JP), Fukui CardioVascular Center (JP), Kyoto University Hospital (JP), Naval Hospital Yokosuka Japan (JP), SHOWA Medical University Hospital (JP), Shizuoka Children's Hospital (JP), Kitano Hospital (JP), University of Toyama (JP), Tottori University (JP), University of Yamanashi (JP), International University of Health and Welfare (JP), Saitama Medical University (JP), The University of Osaka (JP)
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