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首页> 外文期刊>Circulation. Genomic and precision medicine. >Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease
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Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease

机译：由于TTN变异基因扩张型心肌病没有已知的家族病

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摘要

Dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement with reduced left ventricular ejection fraction.1 Among those without coronary artery disease, ≈35°%o have a familial or genetic cause to their cardiomyopathy.2 The majority of familial DCM is thought to be inherited in an autosomal dominant manner, and therefore, although it lacks specificity, family history is often used as a tool to both identify individuals who likely have a genetic cause and guide genetic testing, despite recent guidelines which highlight the insensitivity of this approach.3 Isolated nonischemic DCM can have a genetic cause4 due to a variety of factors including environmental contributions, de novo variants, limited availability of family history, recessive inheritance, and reduced penetrance. Genetic testing is often not considered in these individuals, especially if they present at age over 50 years. Therefore, there is limited information available regarding the frequency of genetic causes in these isolated cases.
机译：扩张型心肌病(DCM)的特点是左心室扩大,减少了心室射血fraction.1没有冠状动脉疾病,≈35°%有阿家族性或基因引起的cardiomyopathy.2被认为是在一个常染色体显性遗传的方式,因此,尽管它缺乏经常被用来当作一种特异性、家庭历史工具来识别那些可能都有遗传原因和指导基因检测,尽管最近突出的指导方针不敏感的approach.3非缺血型DCM遗传cause4由于各种各样的因素,包括环境贡献,更始变体,有限的可用性的家庭历史,隐性继承,以及外显率降低。测试通常是不被认为是在这些个人,特别是如果他们出席的年龄超过50年。信息的频率在这些孤立的情况下遗传原因。

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