摘要
目的 探讨唐氏综合征（DS）与先天性心脏病（CHD）的关系.方法 回顾性分析1997年1月至2013年3月重庆医科大学附属儿童医院收治的575例DS患儿的临床资料,分析DS合并CHD的患病率、类型、染色体核型与CHD类型之间的关系、肺动脉压力及手术治疗情况.结果 共收治575例DS患者,合并CHD370例（64.35％,370/575例）,其中间隔类缺损322例（87.03％,322/370例）,包括房间隔缺损57例（15.41％,57/370例）,室间隔缺损36例（9.72％,36/370例）,房室间隔缺损12例（3.24％,12/370例）,复合间隔类缺损175例（47.30％,175/370例）.非间隔缺损类CHD（包括动脉导管未闭、法洛四联征、右心室双出口、肺动脉闭锁等）48例（12.97％,48/370例）.DS不同核型与CHD类型无明显统计学差异.246例（66.49％,246/370例）合并肺动脉高压.70例（18.92％,70/370例）患儿进行了介入或外科治疗,术后均有不同程度肺动脉压力下降.40例患者合并其他畸形,如胃肠道畸形、多指/趾、视力障碍等.结论 DS与CHD发生密切相关.合并的CHD类型以间隔类缺损为主,房间隔缺损最为常见,其次为室间隔缺损.染色体核型与CHD类型无关.DS合并CHD容易早期出现肺动脉高压,应早期进行评估并制定综合治疗方案.
Objective To investigate the association between Down＆#39;s syndrome（DS） and congenital heart diseases（CHD）.Methods A total of 575 cases with DS from Jan.1997 to Mar.2013 in Children＆#39;s Hospital of Chongqing Medical University were recruited.Retrospective study was conducted to analyze the prevalence and types of CHD in DS children,the relationship between the karyotype of DS and the types of CHD,and pulmonary hypertension （PH） and operation treatment.Results There were 370 cases（64.35%,370/575 cases） with CHD in 575 cases with DS.Among the 370 cases of CHD,322 cases （87.03 %） were septal defects.In which,57 cases （15.41%） were atrial septal defects,36 cases （9.72%） were ventricular septal defects,12 cases （3.24%） were atrioventricular septal defects,and 157 cases（47.30%） were complex septal defects.Forty-eight cases（12.97%,48/370 cases） were nonseptal defect types of CHD （including patent ductus arteriosus,tetralogy of Fallot,double outlet right ventricle,pulmonary atresia,and so on）.There was no statistical significance between the karyotype of DS and the types of CHD.There were 246 cases（66.49%,246/370 cases） with PH.Seventy cases（18.92%,70/370 cases） had interventional or surgical operations.All of them had descending pulmonary artery pressure after operation.Forty cases had other malformations such as gastrointestinal tract malformation,polydactylism / polydactyly,visual impairment,and so on.Conclusions The most common type of CHD with DS was atrial septal defect,and the second one was ventricular septal defect.There was no relationship between the karyotype of DS and the types of CHD.The patients with CHD in DS were prone to develop PH.So the comprehensive treatment plan should be developed as early as possible.
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2014年第8期608-611,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
唐氏综合征
先天性心脏病
肺动脉高压
Down＇s syndrome
Congenital heart diseases
Pulmonary hypertension
