重庆乡镇0~3岁儿童先天性心脏病筛查与随访

Screening and follow-up for congenital heart disease in children aged 0-3 years in rural areas of Chongqing, China

摘要:

目的 筛查重庆乡镇0~3岁儿童先天性心脏病（CHD）的发病情况，随访确诊的CHD患儿，探索适宜于该地区的CHD筛查、诊断、随访体系及筛查指标。方法 采取整群抽样法抽取重庆市涪陵区0~3岁乡镇儿童，采用"乡镇-区县-省市"分级的筛查、诊断、评估体系，以"CHD家族史、呼吸困难、青紫、特殊面容、其他先天性畸形、心脏杂音、脉搏血氧饱和度（S_pO₂ < 95%）"7项指标进行筛查，1项及1项以上筛查指标阳性者行超声心动图检查以明确有无CHD，并评估CHD患儿病情，指导治疗及随访。结果 纳入调查10 281例儿童，实际筛查10 005例（应答率97.32%）。175例筛查指标阳性，其中166例行超声心动图检查，确诊CHD 60例（患病率6‰），其中单纯型46例（76.65%），复合型11例（18.33%），复杂型3例（5.00%）。7项单项筛查指标中，心脏杂音诊断CHD的ROC曲线AUC最大；心脏杂音+特殊面容+其他先天畸形联合对诊断CHD的效果最好。对确诊CHD的患儿继续随访、外科或介入治疗，随访6~18个月，10例自然闭合，13例行介入或手术治疗，36例继续随访，1例因其他原因死亡。结论 心脏杂音单项指标及其与特殊面容和其他先天畸形联合筛查对于诊断婴幼儿CHD有重要价值。合理运用各项临床筛查指标，采用"乡镇-区县-省市"分级的婴幼儿CHD筛查、诊断和评估体系，有利于重庆地区婴幼儿CHD的早期发现、诊断及治疗。

Abstract:

Objective To examine the incidence of congenital heart disease (CHD) in children aged 0-3 years in the rural areas of Chongqing, and to determine the suitable "screening-diagnosis-follow-up" system and screening indicators for CHD in these areas. Methods Children aged 0-3 years from rural areas of the Fuling Disctrict of Chongqing were selected by cluster sampling. Using the "screening-diagnosis-evaluation system" employed at the levels of village/town, district/county, and province/city, the children were screened for seven indicators, i.e., family history of CHD, dyspnea, cyanosis, unique facial features, other congenital malformations, heart murmurs, and blood oxygen saturation (S_pO₂ < 95%). Children who were positive for one or more indicators accepted echocardiography (ECG) for the diagnosis of CHD. CHD patients were evaluated for disease progression, given guided treatments, and followedup by pediatric cardiologists. Results Screening was performed for 10005 out of the 10 281 children enrolled in the study (97.32% response rate). Among the 175 children who were positive for the indicators, 166 underwent ECG and 60 (0.6‰) were diagnosed with CHD, including 46 cases of simple CHD (76.65%), 11 cases of combined CHD (18.33%), and 3 cases of complex CHD (5.00%). Of the 7 screening indicators, heart murmur had the largest area under the ROC curve for the diagnosis of CHD. In addition, a combination of screening indicators (heart murmur, unique facial features, and other congenital malformations) was most effective for screening out CHD. The CHD patients were given surgical or intervention treatments, and followed up for 6 to 18 months. Ten patients improved without treatment, 13 patients received interventional or surgical treatment, 1 patient died of non-cardiac reasons. The remaining 36 patients were subjected to further follow-up. Conclusions Heart murmur alone and in combination with unique facial features and other congenital malformations are valuable tools for CHD screening in children aged 0-3 years. The "village/towndistrict/county-province/city" screening-diagnosis-evaluation systems are useful for the early detection, diagnosis, and treatment of CHD in infants and young children from the rural areas of Chongqing.