Abstract

Objective To investigate the association between Down's syndrome(DS) and congenital heart di-seases(CHD). Methods A total of 575 cases with DS from Jan.1997 to Mar.2013 in Children'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 non-septal 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. Key words: Down's syndrome; Congenital heart diseases; Pulmonary hypertension

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