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.

HYPOTHESIS:

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: Jin-Oh Choi, Cheol-Woong Yu, Jong Chun Nah, Jeong Rang Park, Bok-Soo Lee, Yu Jeong Choi, Byung-Ryul Cho, Sang-Chol Lee, Seung Woo Park, Akinori Kimura, Jeong Euy Park
• Journal: Clinical cardiology (Clin Cardiol) Vol. 33 Issue 7 Pg. 430-8 (Jul 2010) ISSN: 1932-8737 [Electronic] United States
• PMID: 20641121 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright (c) 2010 Wiley Periodicals, Inc.

Chemical References

• Carrier Proteins
• MYH7 protein, human
• Myosin Light Chains
• Troponin I
• myosin-binding protein C
• Cardiac Myosins
• Myosin Heavy Chains

Topics

• Adult
• Asian People (genetics)
• Atrial Fibrillation (ethnology, genetics)
• Cardiac Myosins (genetics)
• Cardiomyopathy, Hypertrophic, Familial (diagnosis, ethnology, genetics, mortality)
• Carrier Proteins (genetics)
• Death, Sudden, Cardiac (ethnology, etiology)
• Disease Progression
• Electrocardiography
• Female
• Genetic Predisposition to Disease
• Heart Failure (ethnology, genetics)
• Humans
• Korea
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Mutation
• Myosin Heavy Chains (genetics)
• Myosin Light Chains (genetics)
• Pedigree
• Phenotype
• Stroke (ethnology, genetics)
• Time Factors
• Troponin I (genetics)