Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.

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

Circulation. Genomic and precision medicine（2023）

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摘要

In this study, 50% of pediatric restrictive cardiomyopathy patients had pathogenic or likely-pathogenic gene variants, and missense variants were the most frequent. Patients with pathogenic variants showed significantly lower transplant-free survival compared with patients without pathogenic variants.

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cohort study, pediatric, restrictive cardiomyopathy, survival rates, whole exome sequencing

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