Hoffman Julien I E, Kaplan Samuel
Department of Pediatrics and the Cardiovascular Research Institute, University of California, San Francisco, California 94143, USA.
J Am Coll Cardiol. 2002 Jun 19;39(12):1890-900. doi: 10.1016/s0735-1097(02)01886-7.
This study was designed to determine the reasons for the variability of the incidence of congenital heart disease (CHD), estimate its true value and provide data about the incidence of specific major forms of CHD. The incidence of CHD in different studies varies from about 4/1,000 to 50/1,000 live births. The relative frequency of different major forms of CHD also differs greatly from study to study. In addition, another 20/1,000 live births have bicuspid aortic valves, isolated anomalous lobar pulmonary veins or a silent patent ductus arteriosus. The incidences reported in 62 studies published after 1955 were examined. Attention was paid to the ways in which the studies were conducted, with special reference to the increased use of echocardiography in the neonatal nursery. The total incidence of CHD was related to the relative frequency of ventricular septal defects (VSDs), the most common type of CHD. The incidences of individual major forms of CHD were determined from 44 studies. The incidence of CHD depends primarily on the number of small VSDs included in the series, and this number in turn depends upon how early the diagnosis is made. If major forms of CHD are stratified into trivial, moderate and severe categories, the variation in incidence depends mainly on the number of trivial lesions included. The incidence of moderate and severe forms of CHD is about 6/1,000 live births (19/1,000 live births if the potentially serious bicuspid aortic valve is included), and of all forms increases to 75/1,000 live births if tiny muscular VSDs present at birth and other trivial lesions are included. Given the causes of variation, there is no evidence for differences in incidence in different countries or times.
本研究旨在确定先天性心脏病（CHD）发病率变异性的原因，估计其真实值，并提供特定主要类型CHD发病率的数据。不同研究中CHD的发病率在每1000例活产中约为4至50例不等。不同主要类型CHD的相对频率在不同研究中也有很大差异。此外，另有每1000例活产中有20例存在二叶式主动脉瓣、孤立性肺静脉异常或无症状动脉导管未闭。对1955年后发表的62项研究报告的发病率进行了审查。关注了研究的开展方式，特别提及新生儿重症监护室中超声心动图使用的增加。CHD的总发病率与室间隔缺损（VSD）这一最常见的CHD类型的相对频率相关。从44项研究中确定了各主要类型CHD的发病率。CHD的发病率主要取决于系列研究中纳入的小型VSD的数量，而这个数量又取决于诊断的早晚。如果将主要类型的CHD分为轻微、中度和重度类别，发病率的差异主要取决于所纳入的轻微病变的数量。中度和重度CHD的发病率约为每千例活产6例（如果包括潜在严重的二叶式主动脉瓣，则为每千例活产19例），如果包括出生时存在的微小肌部VSD和其他轻微病变，则所有类型的发病率增至每千例活产75例。鉴于变异原因，没有证据表明不同国家或不同时期的发病率存在差异。
