Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations

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

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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.

Original languageEnglish
Pages (from-to)430-438
Number of pages9
JournalClinical Cardiology
Volume33
Issue number7
DOIs
Publication statusPublished - 2010 Jul

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ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Choi, J. O., Yu, C. W., Nah, J. C., Park, J. R., Lee, B. S., Choi, Y. J., Cho, B. R., Lee, S. C., Park, S. W., Kimura, A., & Park, J. E. (2010). Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations. Clinical Cardiology, 33(7), 430-438. https://doi.org/10.1002/clc.20795