摘要
目的探讨家族性单纯房间隔缺损的临床特点和遗传现象。方法对一个家系的患者和家族成员的病史、体征、心电图、彩色多普勒超声心动图等进行调查分析。结果一个家系三代共12人中有4人符合FASD的诊断,其中男性2例,女性2例,均无明显的临床症状和房室传导阻滞。家谱分析显示,遗传方式符合常染色体显性遗传。结论家族性单纯房间隔的临床表现是不定的,其发病具有连续传代的特点,不受性别的影响。
Objective To explore the cinical characteristics and genetic phenomenon ot tarmlial isolated atrial septal defect （FASD）. Methods Proband with FASD and families members were evaluated by detailed history and physical examination, 12-lead ECG, 2D Doppler echocardiography. Results one pedigree consisted of 12 individuals extending through 3 generations,4 individuals were diagnosed with at- rial septal defect （male 2 ,female 2）, all affected individuals had not obvious symptom and atrioventricular block. Pedigree analysis suggests that FASD is a autosome dominant heredity disease. Conclussions FASD is a disease with variable symptom,continuously passing and not effected by sex.
出处
《临床内科杂志》
CAS
2007年第3期178-179,共2页
Journal of Clinical Internal Medicine
基金
广西科学基金(桂科青0542049)
广西卫生厅科研基金(桂卫Z2004116)资助
