Genetic landscape of hereditary cardiomyopathies and arrhythmias in China

Yang Lu; Zeyuan Wang; Shuyuan Zhang; Yaping Liu; Ye Jin; Zhuang Tian; Shuyang Zhang

doi:10.1016/j.jgg.2025.07.003

Genetic landscape of hereditary cardiomyopathies and arrhythmias in China

doi: 10.1016/j.jgg.2025.07.003

a. Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China;
b. Medical Center for Rare Diseases, State Key Laboratory for Complex Severe and Rare Diseases, Peking Union Medical College Hospital, 100730, Beijing, China;
c. Center for Digital Medicine and Artificial Intelligence, National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China;
d. International medical service, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China

基金项目:

This work was supported by Science, Technology & Innovation Project of Xiongan New Area (2023XAGG0069), National Key Research and Development Program of China (2022YFC2703100), National High Level Hospital Clinical Research Funding (2022-PUMCH-D-002), National Natural Science Foundation of China (824B2011 to Z.W.), and National High Level Hospital Clinical Research Funding (2023-PUMCH-E-012).

详细信息

通讯作者:
Ye Jin,E-mail:jinye0320@163.com

Zhuang Tian,E-mail:tianzhuangcn@sina.com

Shuyang Zhang,E-mail:shuyangzhang103@163.com

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出版历程
- 收稿日期: 2025-03-14
- 录用日期: 2025-07-05
- 修回日期: 2025-07-04
- 网络出版日期: 2025-07-11

Genetic landscape of hereditary cardiomyopathies and arrhythmias in China

Yang Lu^a,
Zeyuan Wang^a,
Shuyuan Zhang^a,
Yaping Liu^b,
Ye Jin^{b,c
, ,},
Zhuang Tian^{a,d
, ,},
Shuyang Zhang^{a,b
, ,}

a. Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China;
b. Medical Center for Rare Diseases, State Key Laboratory for Complex Severe and Rare Diseases, Peking Union Medical College Hospital, 100730, Beijing, China;
c. Center for Digital Medicine and Artificial Intelligence, National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China;
d. International medical service, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 100730, Beijing, China

Funds:

摘要

摘要:
Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality. The advent of next-generation sequencing (NGS) has made genetic testing more accessible, which is crucial for precise diagnosis and targeted therapeutic strategies. The aim of this study is to explore the landscape of genetic variants, the relationship between specific variants and clinical phenotypes, and the impact on clinical decision-making in China. A total of 1,536 probands (median age, 37 years; 1,025 males [66.7%]) with suspected hereditary cardiomyopathy or arrhythmia (covering 15 clinical phenotypes) are recruited from 146 hospitals across 30 provinces and cities in China. Positive results are confirmed in 390 of 1536 probands, leading to a diagnostic yield of 25.4%. Forty-two and three tenths percent (n = 169) of family members carry the same variants as positive probands. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the predominant phenotypes, with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM. In 76.9% of the positive probands, the identified variants are helpful in clinical management, family screening and fertility. This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
- Genetic testing /
- Cardiomyopathy /
- Arrhythmia /
- Diagnostic yield /
- Chinese population /
- Cardiovascular genetics
Abstract:
Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality. The advent of next-generation sequencing (NGS) has made genetic testing more accessible, which is crucial for precise diagnosis and targeted therapeutic strategies. The aim of this study is to explore the landscape of genetic variants, the relationship between specific variants and clinical phenotypes, and the impact on clinical decision-making in China. A total of 1,536 probands (median age, 37 years; 1,025 males [66.7%]) with suspected hereditary cardiomyopathy or arrhythmia (covering 15 clinical phenotypes) are recruited from 146 hospitals across 30 provinces and cities in China. Positive results are confirmed in 390 of 1536 probands, leading to a diagnostic yield of 25.4%. Forty-two and three tenths percent (n = 169) of family members carry the same variants as positive probands. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the predominant phenotypes, with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM. In 76.9% of the positive probands, the identified variants are helpful in clinical management, family screening and fertility. This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.
- Genetic testing /
- Cardiomyopathy /
- Arrhythmia /
- Diagnostic yield /
- Chinese population /
- Cardiovascular genetics