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扩张型心肌病的遗传学

Author
Ray E Hershberger, MD
Section Editors
William J McKenna, MD
Benjamin A Raby, MD, MPH
Deputy Editor
Susan B Yeon, MD, JD, FACC
Translators
靳文英, 副主任医师

引言

扩张型心肌病(dilated cardiomyopathy, DCM)是心力衰竭(heart failure,HF)的常见病因，也是引介行心脏移植患者中的最常见诊断。DCM的特点是一侧或双侧心室的扩张及收缩功能障碍。 (参见“心肌病的定义和分类”)

当排除了所有已知的病因时，DCM可被归类为特发性(特发性扩张型心肌病，idiopathic dilated cardiomyopathy,IDC)。DCM的潜在可诊断病因包括多种毒性、代谢性或感染性因子。(参见“扩张型心肌病的病因”)也必须除外缺血性心脏病。专家通常将IDC的诊断用于不明原因的DCM，然而病因是存在的，但未被发现。

有关过去数十年期间一级亲属的家族研究已确定，在20%-超过50%的通过临床筛查家族成员而诊断为IDC的患者中可发现家族性扩张型心肌病(familial dilated cardiomyopathy,FDC)。大多数家族性DCM以常染色体显性模式遗传，但已发现了所有遗传模式(常染色体隐性、X连锁和线粒体遗传)。在过去15年期间，家族性DCM的遗传学研究已在超过30个基因中发现突变。

大多数遗传性DCM患者会有IDC的初始诊断。鉴于家族性DCM频发，新发IDC病例的评估应该包括详细采集3-4代家族史，以及临床筛查一级亲属，如下所述。

本专题将讨论与DCM相关的多种表型及基因。家族性DCM的患病率、诊断和治疗将单独讨论。 (参见“家族性扩张型心肌病：患病率、诊断和治疗”)

                     

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Literature review current through: 2017-06 . | This topic last updated: 2016-05-23.
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