谭丽 陈然

    [摘要] 家族性扩张型心肌病(familial? dilated? cardiomyopathy，FDCM)是指一个家系中包含先证者中有两个及两个以上确诊扩张型心肌病的患者，或者先证者家系中有小于35岁的一级亲属猝死史。由于FDCM具有遗传多样性、遗传异质性、不完全外显率或年龄相关外显率的特征，导致临床医师经常忽视FDCM的诊断。本文详细介绍了一个家系中Ⅱ-2、Ⅱ-4、Ⅱ-7成员在临床随访过程中先后出现气促症状，完善心脏彩超、冠状动脉造影后，被确诊为FDCM的过程，并对FDCM的诊治进行系统性文献复习，希望广大医师提高对FDCM的认识。

    [关键词] 扩张型心肌病;家族性疾病;遗传因素;临床诊断

    [中图分类号] R522.1? ? ? ? ? [文献标识码] B? ? ? ? ? [文章编号] 1673-9701(2022)10-0174-03

    [Abstract] The familial dilated cardiomyopathy (FDCM) is defined as a family with two or more proband diagnosed with dilated cardiomyopathy (DCM)， or a family with a history of sudden death in first-degree relatives younger than 35 years old. FDCM is characterized by genetic diversity， genetic heterogeneity， incomplete penetrance， or age-related penetrance， leading clinicians to often overlook the diagnosis of FDCM. This paper introduces in detail how members of a family ......