Initial investigation of distribution of different types of fetal complex congenital heart disease with ventricular septal defect
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摘要: 目的:通过对胎儿时期发现合并室间隔缺损 (ventricular septal defect, VSD) 的复杂性先天性心脏病的病例资料进行分析, 探讨不同类型心血管结构异常与室间隔缺损发生的可能关系, 为进一步进行先天性心脏病遗传学机制研究提供资料。方法:回顾性分析926例产前超声发现合并VSD的复杂性先天性心脏病患胎超声资料;追踪其产后结局 (产后超声复查或尸检结果), 以其追踪结果作为分析资料;对纳入病例进行分类、频数统计及讨论。结果:在纳入研究的926例病例中, 合并大血管及动脉圆锥异常的为最多 (721);除VSD外, 合并两种及以上的结构异常的病例有384例;在不同结构异常类型出现的频数中, 大血管及动脉圆锥异常和大范围间隔组织缺损共同出现的频次最高 (205)。结论:在纳入研究的病例中, 常出现几种结构异常共同出现的趋势;VSD与大血管及圆锥异常共同出现的频率最高, 与心脏位置异常及静脉系统异常同时出现的频率较低。Abstract: Objective:To investigate the possible relationship of different types of cardiac anomaly to occurrence of ventricular septal defect (VSD) through analysis on data of cases of complex congenital heart disease diagnosed during fetal period.Method:In retrospective analysis, 926ultrasonographic data of cases, who were diagnosed of complex congenital heart disease with VSD, were detected by ante partum fetal echocardiography, and tracked post partum results (post partum ultrasonic re-inspection or autopsy results).Result:In such 926cases under investigation, cases of anomalies of arteries and conus arteriosus account were the most (721);384cases cover were more than one anomaly group other than VSD.In the match of occurrence frequencies of different anomaly groups, there was the highest frequency (205) for the match of anomalies of arteries and conus arteriosus and extensive septum defect.Conclusion:There is highest frequency for concurrence of matches of VSD and anomalies of arteries and conus arteriosus, while there is low frequency for match of VSD and anomaly of cardiac situs and that of intravenous system anomaly.
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Key words:
- ventricular septal defect /
- complex congenital heart disease /
- fetus /
- heredity
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[1] 吕小东, 刘迎龙.先天性心脏病的胚胎学分类研究进展[J].中华胸心血管外科杂志, 2005, 21 (1):54-55.
[2] DOLK H, LOANE M, GARNE E.European Surveillance of Congenital Anomalies (EUROCAT) Working Group.Congenital heart defects in Europe:prevalence and perinatal mortality, 2000to 2005[J].Circulation, 2011, 123:841-849.
[3] HOFFMAN J I, KAPLAN S.The incidence of congenital heart disease[J].J Am Coll Cardiol, 2002, 39:1890-1900.
[4] VAN DER LINDE D, KONINGS E E, SLAGER M A, et al.Birth prevalence of congenital heart disease worldwide:a systematic review and meta-analysis[J].J Am Coll Cardiol, 2011, 58:2241-2247.
[5] HOUYEL L, KHOSHNOOD B, ANDERSON R H, et al.Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code[J].Orphanet J Rare Dis, 2011, 10:64-66.
[6] TENNSTEDT C, CHAOUI R, KÖRNER H, et al.Spectrum of congenital heart defects and extracardiac malformations associated with chromosomalabnormalities:results of a seven year necropsy study[J].Heart, 1999, 82:34-39.
[7] 殷胜利, 张希, 孙培吾, 等.先天性心脏病的染色体研究[J].中华实验外科杂志, 2001, 18 (10):520-521.
[8] RICHARDS A A, GARG V.Genetics of congenital heart disease[J].Curr Cardiol Rev, 2010, 6:91-97.
[9] 王琦光, 朱鲜阳.先天性心脏病遗传学研究进展[J].实用儿科临床杂志, 2012, 27 (1), 57-60.
[10] 周学亮, 刘季春.Notch信号通路与心脏发育、先天性心脏病及心肌再生[J].临床心血管病杂志, 2012, 28 (12):887-889.
[11] 周素贞, 曹青, 洪葵.先天性心脏病发育遗传学的研究进展[J].临床心血管病杂志, 2010, 26 (10):723-725.
[12] WANG H, CHEN D, MA L, et al.Genetic analysis of the TBX1 gene promoter in ventricular septal defects[J].Mol Cell Biochem, 2012, 370:53-58.
[13] QIAO Y, WANYAN H, XING Q, et al.Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects[J].Gene, 2012, 500:28-31.
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