title: Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
abstract: 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 β-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.
authors.affiliation: Heart Center, Peking University People's Hospital, Beijing, People's Republic of China.
authors.forename: Wen
authors.initials: W
authors.lastname: Liu
authors.forename: Wenling
authors.initials: W
authors.lastname: Liu
authors.forename: Dayi
authors.initials: D
authors.lastname: Hu
authors.forename: Tiangang
authors.initials: T
authors.lastname: Zhu
authors.forename: Zhanfeng
authors.initials: Z
authors.lastname: Ma
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.forename: Wenli
authors.initials: W
authors.lastname: Xie
authors.forename: Cuilan
authors.initials: C
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Li
authors.forename: Jingang
authors.initials: J
authors.lastname: Yang
authors.forename: Tianchang
authors.initials: T
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Bian
authors.forename: Qiguang
authors.initials: Q
authors.lastname: Tong
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002648:Child; D018450:Disease Progression; D004452:Echocardiography; D004562:Electrocardiography; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D012518:Sarcomeres / Q000235:genetics; D018709:Statistics, Nonparametric; D020107:Troponin T / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D020107:Troponin T; D000099163:Myosin Binding Protein C