Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene

被引:83
|
作者
Kokado, H [1 ]
Shimizu, M [1 ]
Yoshio, H [1 ]
Ino, H [1 ]
Okeie, K [1 ]
Emoto, Y [1 ]
Matsuyama, T [1 ]
Yamaguchi, M [1 ]
Yasuda, T [1 ]
Fujino, N [1 ]
Ito, H [1 ]
Mabuchi, H [1 ]
机构
[1] Kanazawa Univ, Sch Med, Dept Internal Med 2, Kanazawa, Ishikawa 9208640, Japan
关键词
hypertrophy; cardiomyopathy; genes; prognosis; proteins;
D O I
10.1161/01.CIR.102.6.663
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background-Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes that code proteins in the sarcomere, Previous reports have demonstrated that cardiac troponin I (cTnI) gene mutations may account for familial HCM; however, the clinical characteristics and prognosis of patients with HCM caused by cTnI gene mutations are not known. Methods and Results-We analyzed cTnI gene mutations in 130 unrelated probands with HCM and their families to clarify the genotype-phenotype correlations. We identified 25 individuals in 7 families with a Lys183 deletion (Lys183 del) mutation in exon 7 of the cTnI gene. The disease penetrance in subjects aged >20 years was 88% by echocardiography and 96% by EGG. Sudden death occurred in 7 individuals of 4 families at any age. Overall, 7 (43.8%) of 16 individuals aged >40 years had left ventricular systolic dysfunction, and 3 (18.8%) displayed dilated cardiomyopathy-like features. Of affected individuals, 4 of 5 individuals aged >40 years followed by echocardiography showed septal thinning and decreased fractional shortening during >5 years of follow-up. Conclusions-The Lys 183 del mutation in the cTnI gene in patients with HCM is associated with variable clinical features and outcomes. HCM caused by the Lys 183 del mutation has a significant disease penetrance. This mutation is associated with sudden death at any age and dilated cardiomyopathy-like features in those aged >40 years. However, it remains unclear whether screening of families with HCM for this mutation will be useful in patient management and counseling.
引用
收藏
页码:663 / 669
页数:7
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