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学科主题: 临床医学
题名:
Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy
作者: Liu, Wen1; Liu, Wenling1; Hu, Dayi1; Zhu, Tiangang1; Ma, Zhanfeng1; Yang, Jie1; Xie, Wenli2; Li, Cuilan1; Li, Lei1; Yang, Jingang3; Li, Tianchang3; Bian, Hong3; Tong, Qiguang3
刊名: AMERICAN JOURNAL OF CARDIOLOGY
发表日期: 2013-08-15
DOI: 10.1016/j.amjcard.2013.04.021
卷: 112, 期:4, 页:585-589
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Cardiac & Cardiovascular Systems
研究领域[WOS]: Cardiovascular System & Cardiology
关键词[WOS]: MYOSIN HEAVY-CHAIN ; MOLECULAR-GENETIC BASIS ; BINDING PROTEIN-C ; SUDDEN-DEATH ; PROGNOSTIC IMPLICATIONS ; COMPOUND ; PREVALENCE ; DISEASE
英文摘要:

Hypertrophic cardiomyopathy (HC) is a hereditary heterogeneous cardiovascular disorder. Existing data have been of predominantly Caucasian samples, and a large study is needed in Chinese population. The present study was intended to explore the genetic basis and clinical characteristics correlated with different genotypes in a large cohort of Chinese patients. Direct gene sequencing of beta-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients. Clinical evaluations were conducted. In total, 32 mutations were identified in 36 patients (27%), including 10 novel ones. Distribution of mutations was 56% (MYBPC3), 31% (MYH7), and 13% (TNNT2), respectively. Double mutations were identified in 3% patients. The occurrence of HC-associated sarcomeric mutations was associated with an earlier age of onset, increased left ventricular hypertrophy, a higher incidence of syncope, previous family history,. and sudden cardiac death. No statistical difference was identified in patients carrying MYBPC3 and MYH7 mutations with regard to clinical characteristics and outcomes. Patients with double mutations were associated with malignant progression in the study. In conclusion, MYBPC3 is the most predominant gene in HC. Multiple mutations are common in MYH7, MYBPC3, and TNNT2. The present study suggests a large diversity of HC and a prognostic role of genotype. (C) 2013 Elsevier Inc. All rights reserved.

语种: 英语
所属项目编号: 81270166 ; 2009-2031 ; 985-2-034-24
项目资助者: National Natural Science Foundation of China ; Capital Development Fund Beijing, China ; Project 985, China
WOS记录号: WOS:000323407700021
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65744
Appears in Collections:北京大学第二临床医学院_期刊论文

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作者单位: 1.Peking Univ, Peoples Hosp, Ctr Heart, Beijing 100871, Peoples R China
2.Beijing Elect Power Hosp, Beijing, Peoples R China
3.Capital Med Univ, Tongren Hosp, Beijing, Peoples R China

Recommended Citation:
Liu, Wen,Liu, Wenling,Hu, Dayi,et al. Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy[J]. AMERICAN JOURNAL OF CARDIOLOGY,2013,112(4):585-589.
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