Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children

Ishida, Hidekazu; Narita, Jun; Ishii, Ryo; Suginobe, Hidehiro; Tsuru, Hirofumi; Wang, Renjie; Yoshihara, Chika; Ueyama, Atsuko; Ueda, Kazutoshi; Hirose, Masaki; Hashimoto, Kazuhisa; Nagano, Hiroki; Kogaki, Shigetoyo; Kuramoto, Yuki; Miyashita, Yohei; Asano, Yoshihiro; Ozono, Keiichi

doi:https://doi.org/10.1161/CIRCGEN.122.004054

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children

Ishida, Hidekazu; Narita, Jun; Ishii, Ryo et al.

Circulation: Genomic and Precision Medicine, 2023, 16(4), 382-389

アクセス数:1,939件（2025-07-20 17:37 集計）

固定URL: https://hdl.handle.net/11094/92556

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タイトル	Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children
著者	NRID 1000050467552 1000050467552 researchmap permalink researcher_cardio researcher_cardio Scopus Author ID 36863872000 36863872000 著者名 Ishida, Hidekazu
	NRID 1000070467562 1000070467562 researchmap permalink J-narita J-narita Scopus Author ID 36993204400 36993204400 著者名 Narita, Jun
	NRID 1000090794008 1000090794008 researchmap permalink iryo-0918 iryo-0918 Scopus Author ID 56017974100 56017974100 著者名 Ishii, Ryo
	著者名 Suginobe, Hidehiro
	著者名 Tsuru, Hirofumi
	著者名 Wang, Renjie
	著者名 Yoshihara, Chika
	著者名 Ueyama, Atsuko
	著者名 Ueda, Kazutoshi
	NRID 1000010973662 1000010973662 researchmap permalink masahirose masahirose Scopus Author ID 57908743200 57908743200 著者名 Hirose, Masaki
	著者名 Hashimoto, Kazuhisa
	著者名 Nagano, Hiroki
	著者名 Kogaki, Shigetoyo
	NRID 1000050843794 1000050843794 researchmap permalink krmt_yk krmt_yk 著者名 Kuramoto, Yuki
	NRID 1000060816312 1000060816312 ORCID 0000-0002-1739-4734 0000-0002-1739-4734 researchmap permalink y-miyashita y-miyashita Scopus Author ID 57208672131 57208672131 著者名 Miyashita, Yohei
	NRID 1000060527670 1000060527670 researchmap permalink osaka-med-yasano osaka-med-yasano Scopus Author ID 7401729290 7401729290 著者名 Asano, Yoshihiro
	NRID 1000020270770 1000020270770 researchmap permalink read0092357 read0092357 Scopus Author ID 55545335700 55545335700 著者名 Ozono, Keiichi
キーワード等	cohort study
	pediatric
	restrictive cardiomyopathy
	survival rates
	whole exome sequencing
内容	Ishida H., Narita J., Ishii R., et al. Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circulation: Genomic and Precision Medicine 16, 382 (2023); https://doi.org/10.1161/CIRCGEN.122.004054.
抄録	BACKGROUND: Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations. METHODS: We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan. RESULTS: The median age at diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen patients received heart transplantations and 5 patients were on the waiting list. One patient died while waiting for transplantation. Pathologic or likely-pathogenic variants were identified in 14 of the 28 (50%) patients, including heterozygous TNNI3 missense variants in 8 patients. TNNT2, MYL2, and FLNC missense variants were also identified. No significant differences in clinical manifestations and hemodynamic parameters between positive and negative pathogenic variants were detected. However, 2- and 5-year survival rates were significantly lower in patients with pathogenic variants (50% and 22%) compared with survival in patients without pathogenic variants (62% and 54%; P=0.0496, log-rank test). No significant differences were detected in the ratio of patients diagnosed at nationwide school heart disease screening program between positive and negative pathogenic variants. Patients diagnosed by school screening showed better transplant-free survival compared with patients diagnosed by heart failure symptoms (P=0.0027 in log-rank test). CONCLUSIONS: In this study, 50% of pediatric restrictive cardiomyopathy patients had pathogenic or likely-pathogenic gene variants, and TNNI3 missense variants were the most frequent. Patients with pathogenic variants showed significantly lower transplant-free survival compared with patients without pathogenic variants.
出版者	Lippincott Williams and Wilkins
収録物名	Circulation: Genomic and Precision Medicine
巻(号)	16(4)
ページ	382-389
刊行年月	2023-08-01
言語	英語
ハンドルURL	https://hdl.handle.net/11094/92556
eISSN	25748300
NCID	AA12847342
関連情報 (isVersionOf)	DOI (出版社版) https://doi.org/10.1161/CIRCGEN.122.004054
関連情報 (isVersionOf)	PMID 37377035
アクセス権	open access
権利情報	© 2023 American Heart Association, Inc. All rights reserved. Unauthorized use prohibited.
出版タイプ	Accepted Manuscript
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	text
DCTERMS.bibliographicCitation	Circulation: Genomic and Precision Medicine. 2023, 16(4), p. 382-389
DC.title	Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children
DC.creator	Ishida, Hidekazu
	Narita, Jun
	Ishii, Ryo
	Suginobe, Hidehiro
	Tsuru, Hirofumi
	Wang, Renjie
	Yoshihara, Chika
	Ueyama, Atsuko
	Ueda, Kazutoshi
	Hirose, Masaki
	Hashimoto, Kazuhisa
	Nagano, Hiroki
	Kogaki, Shigetoyo
	Kuramoto, Yuki
	Miyashita, Yohei
	Asano, Yoshihiro
	Ozono, Keiichi
DC.publisher	Lippincott Williams and Wilkins
DC.language' scheme='DCTERMS.RFC1766	英語
DC.type' scheme='DCTERMS.DCMIType	text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2023-08-01
DC.identifier	https://doi.org/10.1161/CIRCGEN.122.004054
DC.subject	cohort study
	pediatric
	restrictive cardiomyopathy
	survival rates
	whole exome sequencing
DC.description	Ishida H., Narita J., Ishii R., et al. Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circulation: Genomic and Precision Medicine 16, 382 (2023); https://doi.org/10.1161/CIRCGEN.122.004054.
DCTERMS.abstract	BACKGROUND: Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations. METHODS: We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan. RESULTS: The median age at diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen patients received heart transplantations and 5 patients were on the waiting list. One patient died while waiting for transplantation. Pathologic or likely-pathogenic variants were identified in 14 of the 28 (50%) patients, including heterozygous TNNI3 missense variants in 8 patients. TNNT2, MYL2, and FLNC missense variants were also identified. No significant differences in clinical manifestations and hemodynamic parameters between positive and negative pathogenic variants were detected. However, 2- and 5-year survival rates were significantly lower in patients with pathogenic variants (50% and 22%) compared with survival in patients without pathogenic variants (62% and 54%; P=0.0496, log-rank test). No significant differences were detected in the ratio of patients diagnosed at nationwide school heart disease screening program between positive and negative pathogenic variants. Patients diagnosed by school screening showed better transplant-free survival compared with patients diagnosed by heart failure symptoms (P=0.0027 in log-rank test). CONCLUSIONS: In this study, 50% of pediatric restrictive cardiomyopathy patients had pathogenic or likely-pathogenic gene variants, and TNNI3 missense variants were the most frequent. Patients with pathogenic variants showed significantly lower transplant-free survival compared with patients without pathogenic variants.
DC.rights	© 2023 American Heart Association, Inc. All rights reserved. Unauthorized use prohibited.
DC.format	92556
citation_title	Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children
citation_author	Ishida, Hidekazu
	Narita, Jun
	Ishii, Ryo
	Suginobe, Hidehiro
	Tsuru, Hirofumi
	Wang, Renjie
	Yoshihara, Chika
	Ueyama, Atsuko
	Ueda, Kazutoshi
	Hirose, Masaki
	Hashimoto, Kazuhisa
	Nagano, Hiroki
	Kogaki, Shigetoyo
	Kuramoto, Yuki
	Miyashita, Yohei
	Asano, Yoshihiro
	Ozono, Keiichi
citation_publisher	Lippincott Williams and Wilkins
citation_language	英語
citation_date	2023-08-01
citation_journal_title	Circulation: Genomic and Precision Medicine
citation_volume	16
citation_issue	4
citation_firstpage	382
citation_lastpage	389
citation_doi	https://doi.org/10.1161/CIRCGEN.122.004054
citation_pmid	37377035
citation_public_url	https://hdl.handle.net/11094/92556

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children

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