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家族性扩张型心肌病的临床特点和家谱分析 被引量:3

Clinical characteristics and pedigree analysis of familial dilated cardiomyopathy
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摘要 目的:探讨家族性扩张型心肌病(DCM)的临床特点和遗传特征。方法:对4家系的患者和家族成员的病史、体征、心电图、心脏X线片、彩色多普勒超声心动图等进行调查分析。结果:4家系4代共84例中有12例符合家族性DCM的诊断,其中男8例,女4例;均表现为心力衰竭。家谱分析显示,4家系的遗传方式符合常染色体显性遗传。结论:家族性DCM发病具有连续传代的特点及不同的外显率,受性别的影响;常有心力衰竭症状。 Objective:To explore the cinical characteristics and genetic phenomenon of familial dilated cardiomyopathy(FDCM) . Method: Probands with FDCM and families members were evaluated by detailed history and physical examination,12-lead ECG, chest radiography, 2D Doppler echocardiography, Result:Four pedigrees consisted of 84 individuals extending through 4 generations. 12 individuals were diagnosed with FDCM (male 8, female 4) ;all individuals had chronic cardiac failure. Pedigree analysis suggests that FDCM is a autosome dominant heredity disease. Conclusion: FDCM is a disease with continuously passing, differntial penetrance and is affected by sex. Clinically accompany with heart failure.
出处 《临床心血管病杂志》 CAS CSCD 北大核心 2006年第1期30-32,共3页 Journal of Clinical Cardiology
基金 广西卫生厅科研基金资助(No:Z2004116)
关键词 心肌病 扩张型 家族性 遗传学 Cardiomyopathy, dilated Family Genetics
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参考文献8

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二级参考文献3

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共引文献26

同被引文献21

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