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.
基金:
National Natural Science Foundation of China (NSFC) [81270166]; Capital Development Fund Beijing, China [2009-2031]; Project 985, China [985-2-034-24]
第一作者机构:[1]Peking Univ, Peoples Hosp, Ctr Heart, Beijing 100871, Peoples R China
通讯作者:
推荐引用方式(GB/T 7714):
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.doi:10.1016/j.amjcard.2013.04.021.
APA:
Liu, Wen,Liu, Wenling,Hu, Dayi,Zhu, Tiangang,Ma, Zhanfeng...&Tong, Qiguang.(2013).Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy.AMERICAN JOURNAL OF CARDIOLOGY,112,(4)
MLA:
Liu, Wen,et al."Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy".AMERICAN JOURNAL OF CARDIOLOGY 112..4(2013):585-589