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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 investigate the clinical features and genetic characteristics of familial dilated cardiomyopathy (DCM). Methods: The history, signs, ECG, cardiac X-ray and color Doppler echocardiography of patients and family members of 4 pedigrees were investigated. Results: Of the 4 pedigrees of 4 generations, 12 of 84 patients were diagnosed as familial DCM, including 8 males and 4 females, all of whom showed heart failure. Pedigree analysis showed that the four families were in accordance with autosomal dominant inheritance. Conclusion: The incidence of familial DCM with continuous passage characteristics and different penetrance, affected by gender; often symptoms of heart failure.