Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
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.
Choi
Jin-Oh
JO
Division of Cardiology, Department of Medicine, Cardiac and Vascular Centre, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Yu
Cheol-Woong
CW
Chun Nah
Jong
J
Rang Park
Jeong
J
Lee
Bok-Soo
BS
Jeong Choi
Yu
Y
Cho
Byung-Ryul
BR
Lee
Sang-Chol
SC
Woo Park
Seung
S
Kimura
Akinori
A
Euy Park
Jeong
J
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
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