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In this cross-sectional study including 1 825 patients with HCM, Chinese patients have a higher proportion of rare variants but have a similar proportion of likely pathogenic or pathogenic variants compared with Europeans. In addition, c.3624del in MYBPC3 and c.300C>G in TNNT2 are predominantly present in patients of East Asian ancestry. In this study, ethnic disparities of HCM genetic architecture were observed, and a lack of prior research in Chinese populations limits variant interpretation in Chinese ancestry with HCM.

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Jie Wang, Dominic Russ, Yongsan Yang, Lutong Pu, Mengdi Yu, Jinquan Zhang, Jiajun Guo, Yuanwei Xu, Ke Wan, Heng Xu, Yuchi Han, Georgios V Gkoutos, Yucheng Chen

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