Scientific Reports (Dec 2024)
Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts
- 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
Affiliations
- Keiichi Hirono
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Yukiko Hata
- Legal Medicine, University of Toyama
- Shojiro Ichimata
- Legal Medicine, University of Toyama
- Naoki Nishida
- Legal Medicine, University of Toyama
- Teruhiko Imamura
- 2Nd Department of Internal Medicine, Faculty of Medicine, University of Toyama
- Yoshihiro Asano
- National Cerebral and Cardiovascular Center
- Yuki Kuramoto
- Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine
- Kaori Tsuboi
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Shinya Takarada
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Mako Okabe
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Hideyuki Nakaoka
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Keijiro Ibuki
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Sayaka Ozawa
- Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama City
- Jun Muneuchi
- Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization
- Kazushi Yasuda
- Department of Pediatric Cardiology, Aichi Children’s Health and Medical Center
- Kotaro Urayama
- Department of Pediatrics, Tsuchiya General Hospital
- Hideharu Oka
- Department of Pediatrics, Asahikawa Medical University Hospital
- Tomoyuki Miyamoto
- Department of Pediatrics, Yokosuka General Hospital Uwamachi
- Kenji Baba
- Department of Pediatrics, Okayama University Graduate School of Medicine
- Akio Kato
- Department of Pediatric Cardiology, Okinawa Prefectural Nanbu Medical Center and Children’s Medical Center
- Hirofumi Saiki
- Department of Pediatrics and Pediatric Cardiology, Iwate Medical University School of Medicine
- Naoki Kuwabara
- Department of Pediatric Cardiology, Gifu Prefectural General Medical Center
- Masako Harada
- Division of Pediatrics, Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki
- Shiro Baba
- Department of Pediatrics, Kyoto University Hospital
- Mari Morikawa
- Department of Pediatrics, Kanazawa Medical University
- Hidenori Iwasaki
- Department of Pediatrics, Kanazawa University Hospital
- Yuichiro Hirata
- Department of Pediatrics, Kyushu University Hospital
- Yuki Ito
- Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center
- Heima Sakaguchi
- Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center
- Susumu Urata
- Division of Cardiology, National Center for Child Health and Development
- Koichi Toda
- Department of Pediatric Cardiology, Saitama Medical University International Medical Center
- Emi Kittaka
- Department of Cardiology, Saitama Children’s Medical Center
- Seigo Okada
- Department of Pediatrics, Yamaguchi University Graduate School of Medicine
- Yohei Hasebe
- Department of Pediatrics, Faculty of Medicine, University of Yamanashi
- Shinsuke Hoshino
- Department of Pediatrics, Shiga University of Medical Science
- Takanari Fujii
- Pediatric Heart Disease and Adult Congenital Heart Disease Center, Showa University Hospital
- Norie Mitsushita
- Department of Cardiology, Shizuoka Children’s Hospital
- Masaki Nii
- Department of Cardiology, Shizuoka Children’s Hospital
- Kayo Ogino
- Department of Pediatrics, Kurashiki Central Hospital
- Mitsuhiro Fujino
- Department of Pediatric Cardiology, Osaka City General Hospital
- Yoko Yoshida
- Decision of Pediatric Electrophysiology, Osaka City General Hospital
- Yutaka Fukuda
- Department of Pediatrics, Takeda General Hospital
- Satoru Iwashima
- Department of Pediatrics, Chutoen General Medical Center
- Kiyohiro Takigiku
- Department of Pediatric Cardiology, Nagano Children’s Hospital
- Yasushi Sakata
- Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University
- Ryo Inuzuka
- Department of Pediatrics, Tokyo University Hospital
- Jun Maeda
- Division of Cardiology, Tokyo Metropolitan Children’s Medical Center
- Yasunobu Hayabuchi
- Department of Pediatrics, Tokushima University Hospital
- Tao Fujioka
- Department of Pediatrics, Japanese Red Cross Medical Center
- Hidemasa Namiki
- Department of Pediatrics and Child Health, Nihon University School of Medicine
- Shuhei Fujita
- Department of Pediatrics, Toyama Prefectural Central Hospital
- Koichi Nishida
- Department of Pediatrics, Fukui Cardiovascular Center
- Ayako Kuraoka
- Department of Cardiology, Fukuoka Children’s Hospital
- Nobuhiko Kan
- Department of Fetal and Neonatal Cardiology, Fukuoka Children’s Hospital
- Sachiko Kido
- Department of Cardiology, Hyogo Prefectural Kobe Children’s Hospital
- Ken Watanabe
- Department of Pediatrics, Kitano Hospital Tazuke Kofukai Medical Research Institute
- Fukiko Ichida
- Department of Pediatrics, International University of Health and Welfare
- DOI
- https://doi.org/10.1038/s41598-024-77360-3
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 14
Abstract
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.
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