| 家族性单纯房间隔缺损的临床特点和系谱分析 |
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| 引用本文： | 巫相宏,朱立光,陈宇明,马国添,莫剑梅.家族性单纯房间隔缺损的临床特点和系谱分析[J].临床内科杂志,2007,24(3):178-179. |
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| 作者姓名： | 巫相宏 朱立光 陈宇明 马国添 莫剑梅 |
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| 作者单位： | 530021,广西南宁,广西医科大学第一附属医院心内科 |
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| 基金项目： | 广西科学基金(桂科青0542049)，广西卫生厅科研基金(桂卫Z2004116)资助 |
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| 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。
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| 关 键 词： | 房间隔缺损 遗传 家谱分析 |
| 文章编号： | 1001-9057(2007)03-0178-02 |
| 修稿时间： | 2006年6月27日 |
Clinical characteristics and pedigree analysis of a familial isolated atrial septal defect |
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| WU Xianghong,ZHU Liguang,CHEN Yuming,et al..Clinical characteristics and pedigree analysis of a familial isolated atrial septal defect[J].Journal of Clinical Internal Medicine,2007,24(3):178-179. |
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| Authors: | WU Xianghong ZHU Liguang CHEN Yuming |
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| Affiliation: | WU Xianghong,ZHU Liguang,CHEN Yuming,et al.Department of cardiology,the first affiliated hospital of guangxi medical university,Nanning 530021,China |
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| Abstract: | Objective To explore the cinical characteristics and genetic phenomenon of familial 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 atrial 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. |
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| Keywords: | Atrial septal defect Genetics |
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