Narayanan Dhanya Lakshmi, Yesodharan Dhanya, Kappanayil Mahesh, Kuthiroly Shwetha, Thampi M V, Hamza Zareena, Anilkumar Alka, Nair K Mohandas, Sundaram K R, Kumar R Krishna, Nampoothiri Sheela
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Cochin, 682041, Kerala, India.
Indian J Pediatr. 2014 Jun;81(6):547-51. doi: 10.1007/s12098-013-1088-6. Epub 2013 Aug 10.
To describe the spectrum of congenital heart disease in children with Down syndrome and their cytogenetic profile (and that of parents of those with translocation), and thyroid profile.
A cross sectional study was conducted in 418 consecutive patients with Down syndrome attending the Department of Pediatric Genetics from a tertiary care centre in Kerala with a comprehensive Pediatric Cardiac Program, from November 2005 through April 2012. All children were offered cytogenetic analysis and were subjected to echocardiography. Parental karyotyping was offered for children with translocation type of Down syndrome. The thyroid profiles of all children were checked at the first visit and once every 6 mo during follow up.
Congenital heart disease was present in 256 (63.4 %) of 404 children with Down syndrome. Ventricular septal defect (72; 28.1 %) was the commonest, followed by atrio-ventricular septal defect (70; 27.3 %) and patent ductus arteriosus (43; 16.8 %). Surgical correction was accomplished in 104 (40.6 %) with excellent intermediate-term outcomes. Three hundred eighty seven of 418 children (92.6 %) underwent cytogenetic tests. The abnormalities included non-disjunction (340, 87.8 %), translocation (33, 8.5 %) and mosaicism (12, 3.1 %). Hypothyroidism was detected in 57 children (13.6 %).
The prevalence of congenital heart disease in children with Down syndrome in Kerala is the highest reported (63.4 %). Ventricular septal defect is the most common heart disease in the present study. The results highlight the changing attitudes of families towards the surgical correction of congenital heart disease in children with Down syndrome. Prevalence of hypothyroidism in Down syndrome in Kerala is 13.6 %.
描述唐氏综合征患儿的先天性心脏病谱、细胞遗传学特征（及易位型患儿父母的细胞遗传学特征）和甲状腺功能情况。
2005年11月至2012年4月，在喀拉拉邦一家设有综合儿科心脏项目的三级医疗中心的儿科遗传学部门，对418例连续就诊的唐氏综合征患儿进行了一项横断面研究。所有患儿均接受了细胞遗传学分析和超声心动图检查。对易位型唐氏综合征患儿的父母进行了核型分析。所有患儿在首次就诊时检查甲状腺功能，并在随访期间每6个月检查一次。
404例唐氏综合征患儿中，256例（63.4%）患有先天性心脏病。室间隔缺损（72例；28.1%）最为常见，其次是房室间隔缺损（70例；27.3%）和动脉导管未闭（43例；16.8%）。104例（40.6%）患儿接受了手术矫正，中期效果良好。418例患儿中的387例（92.6%）接受了细胞遗传学检测。异常情况包括不分离（340例，87.8%）、易位（33例，8.5%）和嵌合体（12例，3.1%）。57例患儿（13.6%）检测出甲状腺功能减退。
喀拉拉邦唐氏综合征患儿先天性心脏病的患病率是报道中最高的（63.4%）。室间隔缺损是本研究中最常见的心脏病。结果凸显了家庭对唐氏综合征患儿先天性心脏病手术矫正态度的转变。喀拉拉邦唐氏综合征患儿甲状腺功能减退的患病率为13.6%。
