title: Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.
abstract: BACKGROUND
  No data are available on survival analysis and longitudinal evolution of patients with gene mutations of beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3) in Chinese.
  
  
  OBJECTIVE
  To prospectively investigate whether different gene mutations confer distinct prognosis.
  
  
  METHODS
  We performed a prospective study in 70 HCM patients and 46 genetically affected family members without HCM-phenotype with direct DNA sequencing of MYH7 and MYBPC3, clinical assessments, and 5.8 +/- 1.8 years follow-up.
  
  
  RESULTS
  After follow-up, more surgical intervention (8/52 versus 0/18, p < 0.001), higher sudden death risk (7/52 versus 0/18, p < 0.001) and shorter life span were found in patients with MYH7 mutations than in patients with MYBPC3 mutations (45.1 +/- 14.0 versus 73.5 +/- 7.5 years, p = 0.03). Seven of the 27 mutation carriers of MYH7 had clinical presentations of HCM, but no carriers of MYBPC3 mutations developed to HCM during follow-up. Maximal wall thickness was thicker in the patients carrying mutations in the global region of MYH7 than in those carrying mutations in the rod region of MYH7 (21.5 +/- 6.6 versus 15 +/- 6.1 mm, p < 0.05) at baseline. More sudden death (7/41 versus 0/11) and left ventricular dysfunction (NYHA Class III approximately IV, 17/32 versus 1/10) were identified in patients with mutations in the global region of MYH7 than in patients with other mutations.
  
  
  CONCLUSIONS
  MYH7 mutations, especially in the global region, cause malignant clinical phenotypes.
authors.affiliation: Department of Cardiology, Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of Ministry of Education, Peking Union Medical College, Beijing, China.
authors.forename: Shuxia
authors.initials: S
authors.lastname: Wang
authors.forename: Yubao
authors.initials: Y
authors.lastname: Zou
authors.forename: Chunyan
authors.initials: C
authors.lastname: Fu
authors.forename: Xiqi
authors.initials: X
authors.lastname: Xu
authors.forename: Jizheng
authors.initials: J
authors.lastname: Wang
authors.forename: Lei
authors.initials: L
authors.lastname: Song
authors.forename: Hu
authors.initials: H
authors.lastname: Wang
authors.forename: Jingzhou
authors.initials: J
authors.lastname: Chen
authors.forename: Jianwei
authors.initials: J
authors.lastname: Wang
authors.forename: Tujun
authors.initials: T
authors.lastname: Huan
authors.forename: Rutai
authors.initials: R
authors.lastname: Hui
mesh_terms: D000328:Adult; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D002352:Carrier Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D011446:Prospective Studies; D018570:Risk Assessment; D012307:Risk Factors; D024723:Ventricular Myosins / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D024723:Ventricular Myosins; D000099163:Myosin Binding Protein C