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首页> 外文期刊>Genetic testing and molecular biomarkers >Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy
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Low Prevalence and Variable Clinical Presentation of Troponin I and Troponin T Gene Mutations in Hypertrophic Cardiomyopathy

机译：临床表现低患病率和变量肌钙蛋白I、肌钙蛋白T基因突变肥厚性心肌病

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摘要

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in cardiac sarcomeric proteins. Troponin I (TNNI3) and troponin T (TNNT2) are important parts of the sarcomere in heart muscle, and mutations in their genes are responsible for development of HCM. The prevalence of mutations in these two genes is low; hence, the data on clinical outcome are scarce. Yet, some of these mutations were shown to be malignant with a high incidence of sudden death. Here, we describe the disease course in three families affected with TNNI3 and one family with TNNT2 gene mutations. In TNNI3—HCM, the phenotypic manifestation ranged from clinically silent to sudden cardiac death with the worst prognosis observed in carriers of Ala157Val mutation in exon 7. In contrast, TNNT2—HCM was associated with favorable prognosis. Thus, the findings of the present study add evidence on the phenotypic presentation of this genetic disease.
机译：肥厚性心肌病(HCM)是一种常染色体主要障碍突变所引起的心脏sarcomeric蛋白质。肌钙蛋白T (TNNT2)的重要部分在心肌肌小节,突变的基因是负责HCM的发展。这两个基因的突变低;稀缺。恶性肿瘤发病率高的突然死亡。三个家庭影响TNNI3和一个家庭TNNT2基因突变。表型包括临床表现沉默与最严重的心脏性猝死预后观察Ala157Val的运营商突变的外显子7。与良好的预后有关。本研究的调查结果增加的证据这种遗传疾病的表型表达。

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