title: Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
abstract: BACKGROUND
  We sought to describe the long-term outcome of individuals in 4 Korean families with hypertrophic cardiomyopathy (HCM) with known mutations.
  
  
  OBJECTIVE
  Long-term clinical features of familial HCM might be characterized according to the mutation causing HCM.
  
  
  METHODS
  We performed long-term (mean, 13.1 y) clinical evaluations on 46 subjects from 4 Korean families with different mutations.
  
  
  RESULTS
  Myosin light chain 3 gene (MYL3) mutation was associated with late-onset HCM with relatively poor prognosis; 1 sudden cardiac death and 2 cases of heart failure with atrial fibrillation occurred among 12 subjects with this mutation. Myosin binding protein C gene (MYBPC3) mutation was associated with 2 cases of sudden cardiac death and 3 cases of heart failure among 7 affected members. Cardiac troponin I type 3 gene (TNNI3) mutation was associated with 5 deaths related to atrial fibrillation and stroke among 12 mutation-positive members. Myosin heavy chain 7 gene (MYH7) mutation was associated with 11 deaths in 15 affected members.
  
  
  CONCLUSIONS
  The clinical course was quite different for different HCM mutations. Even within the same family, individuals carrying the same mutation differed in disease expression and prognosis.
authors.affiliation: Division of Cardiology, Department of Medicine, Cardiac and Vascular Centre, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Jin-Oh
authors.initials: JO
authors.lastname: Choi
authors.forename: Cheol-Woong
authors.initials: CW
authors.lastname: Yu
authors.forename: Jong
authors.initials: J
authors.lastname: Chun Nah
authors.forename: Jeong
authors.initials: J
authors.lastname: Rang Park
authors.forename: Bok-Soo
authors.initials: BS
authors.lastname: Lee
authors.forename: Yu
authors.initials: Y
authors.lastname: Jeong Choi
authors.forename: Byung-Ryul
authors.initials: BR
authors.lastname: Cho
authors.forename: Sang-Chol
authors.initials: SC
authors.lastname: Lee
authors.forename: Seung
authors.initials: S
authors.lastname: Woo Park
authors.forename: Akinori
authors.initials: A
authors.lastname: Kimura
authors.forename: Jeong
authors.initials: J
authors.lastname: Euy Park
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001281:Atrial Fibrillation / Q000208:ethnology / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000401:mortality; D002352:Carrier Proteins / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000208:ethnology / Q000209:etiology; D018450:Disease Progression; D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D006333:Heart Failure / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D018994:Myosin Light Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020521:Stroke / Q000208:ethnology / Q000235:genetics; D013997:Time Factors; D019210:Troponin I / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D024722:Cardiac Myosins; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D018994:Myosin Light Chains; D019210:Troponin I; D000099163:Myosin Binding Protein C; C501641:MYH7 protein, human