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

被引：0

作者：

Hirono, Keiichi ^{[1
]}

Hata, Yukiko ^{[2
]}

Ichimata, Shojiro ^{[2
]}

Nishida, Naoki ^{[2
]}

Imamura, Teruhiko ^{[3
]}

Asano, Yoshihiro ^{[4
]}

Kuramoto, Yuki ^{[5
]}

Tsuboi, Kaori ^{[1
]}

Takarada, Shinya ^{[1
]}

Okabe, Mako ^{[1
]}

Nakaoka, Hideyuki ^{[1
]}

Ibuki, Keijiro ^{[1
]}

Ozawa, Sayaka ^{[1
]}

Muneuchi, Jun ^{[6
]}

Yasuda, Kazushi ^{[7
]}

Urayama, Kotaro ^{[8
]}

Oka, Hideharu ^{[9
]}

Miyamoto, Tomoyuki ^{[10
]}

Baba, Kenji ^{[11
]}

Kato, Akio ^{[12
]}

Saiki, Hirofumi ^{[13
]}

Kuwabara, Naoki ^{[14
]}

Harada, Masako ^{[15
]}

Baba, Shiro ^{[16
]}

Morikawa, Mari ^{[17
]}

Iwasaki, Hidenori ^{[18
]}

Hirata, Yuichiro ^{[19
]}

Ito, Yuki ^{[20
]}

Sakaguchi, Heima ^{[20
]}

Urata, Susumu ^{[21
]}

Toda, Koichi ^{[22
]}

Kittaka, Emi ^{[23
]}

Okada, Seigo ^{[24
]}

Hasebe, Yohei ^{[25
]}

Hoshino, Shinsuke ^{[26
]}

Fujii, Takanari ^{[27
]}

Mitsushita, Norie ^{[28
]}

Nii, Masaki ^{[28
]}

Ogino, Kayo ^{[29
]}

Fujino, Mitsuhiro ^{[30
]}

Yoshida, Yoko ^{[31
]}

Fukuda, Yutaka ^{[32
]}

Iwashima, Satoru ^{[33
]}

Takigiku, Kiyohiro ^{[34
]}

Sakata, Yasushi ^{[35
]}

Inuzuka, Ryo ^{[36
]}

Maeda, Jun ^{[37
]}

Hayabuchi, Yasunobu ^{[38
]}

Fujioka, Tao ^{[39
]}

Namiki, Hidemasa ^{[40
]}

机构：

[1] Univ Toyama, Fac Med, Dept Pediat, 2630 Sugitani, Toyama 9300194, Japan

[2] Univ Toyama, Dept Legal Med, Toyama, Japan

[3] Univ Toyama, Fac Med, Dept Internal Med 2, Toyama, Japan

[4] Natl Cerebral & Cardiovasc Ctr, Suita, Osaka, Japan

[5] Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Osaka, Japan

[6] Kyushu Hosp, Dept Pediat, Japan Community Healthcare Org, Fukuoka, Japan

[7] Aichi Childrens Hlth & Med Ctr, Dept Cardiol, Aichi, Japan

[8] Tsuchiya Gen Hosp, Dept Pediat, Hiroshima 7308655, Japan

[9] Asahikawa Med Univ Hosp, Dept Radiol, Asahikawa, Hokkaido, Japan

[10] Yokosuka Gen Hosp Uwamachi, Dept Ophthalmol, Yokosuka, Kanagawa, Japan

[11] Okayama Univ, Grad Sch Med Dens & Pharmaceut Sci, Dept Pediat, Okayama, Japan

[12] Okinawa Prefectural Nanbu Med Ctr, Childrens Med Ctr, Arakawa, Okinawa, Japan

[13] Iwate Med Univ, Sch Med, Dept Pathol, Iwate, Japan

[14] Gifu Prefectural Gen Med Ctr, Dept Pediat Cardiol, Gifu, Japan

[15] Univ Miyazaki, Dev & Urol Reprod Med, Div Pediat, Fac Med, Miyazaki, Japan

[16] Kyoto Univ Hosp, Dept Pediat, Kyoto, Japan

[17] Kanazawa Med Univ, Dept Pediat Surg, Kanazawa, Ishikawa, Japan

[18] Kanazawa Univ Hosp, Dept Pediat Surg, Kanazawa, Ishikawa, Japan

[19] Kyushu Univ Hosp, Dept Pediat, Fukuoka, Fukuoka, Japan

[20] Natl Cerebral & Cardiovasc Ctr, Dept Pediat Cardiol, Osaka, Japan

[21] Natl Ctr Child Hlth & Dev, Div Cardiol, Tokyo, Japan

[22] Saitama Med Univ Int Med Ctr, Dept Pediat Cardiol, Saitama, Japan

[23] Saitama Childrens Med Ctr, Dept Cardiol, Saitama, Japan

[24] Yamaguchi Univ, Grad Sch Med, Dept Pediat, Yamaguchi, Japan

[25] Univ Yamanashi, Fac Med, Dept Pediat, Yamanashi, Japan

[26] Shiga Univ Med Sci, Dept Pediat, Shiga, Japan

[27] Showa Univ Hosp, Pediat Heart Dis & Adult Congenital Heart Dis Ctr, Tokyo, Japan

[28] Shizuoka Childrens Hosp, Dept Cardiol, Shizuoka, Japan

[29] Kurashiki Cent Hosp, Dept Pediat, Okayama, Japan

[30] Osaka City Gen Hosp, Dept Pediat Cardiol, Osaka, Japan

[31] Osaka City Gen Hosp, Pediat, Osaka, Japan

[32] Takeda Gen Hosp, Dept Pediat, Aizu City, Japan

[33] Chutoen Gen Med Ctr, Dept Pediat, Shizuoka, Japan

[34] Nagano Childrens Hosp, Dept Pediat Cardiol, Nagano, Japan

[35] Tottori Univ, Fac Med, Div Pediat & Perinatol, Tottori, Japan

[36] Tokyo Univ Hosp, Dept Pediat, Tokyo, Japan

[37] Tokyo Metropolitan Childrens Med Ctr, Div Cardiol, Tokyo, Japan

[38] Tokushima Univ Hosp, Dept Pediat, Tokushima, Japan

[39] Japanese Red Cross, Med Ctr, Dept Pediat, Tokyo, Japan

[40] Nihon Univ, Sch Med, Dept Pediat & Child Hlth, Tokyo, Japan

[41] Toyama Prefectural Cent Hosp, Dept Pediat, Toyama, Japan

[42] FUKUI CARDIOVASC CTR, DEPT PEDIAT, FUKUI, Japan

[43] Fukuoka Childrens Hosp, Dept Cardiol, Fukuoka, Japan

[44] Fukuoka Childrens Hosp, Dept Fetal Cardiol, Fukuoka, Japan

[45] Hyogo Prefectural Kobe Childrens Hosp, Dept Cardiol, Kobe, Hyogo, Japan

[46] Kitano Hosp, Tazuke Kofukai Med Res Inst, Dept Pediat, Osaka, Japan

[47] Int Univ Hlth & Welf, Tokyo, Japan

来源：

SCIENTIFIC REPORTS | 2024年 / 14卷 / 01期

关键词：

Dilated cardiomyopathy; Heart failure; Genetics; Sarcomere gene; Left ventricular reverse remodeling; INTERNATIONAL SOCIETY; HEART-FAILURE; CHILDREN; OUTCOMES; ASSOCIATION; CARVEDILOL; MANAGEMENT; RECOVERY;

D O I：

10.1038/s41598-024-77360-3

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：14

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