Wollins D S, Ferencz C, Boughman J A, Loffredo C A
American Society of Clinical Oncology, Alexandria, Virginia 22314, USA.
Teratology. 2001 Nov;64(5):229-36. doi: 10.1002/tera.1069.
Coarctation of the aorta (CoA) is a congenital cardiovascular malformation (CCVM) sometimes associated with ventricular septal defect (VSD). Although the phenotypic association is well documented, little research exists on the epidemiological features distinguishing CoA with and without VSD.
The Baltimore-Washington Infant Study (1981-1989), a population-based study of CCVM, evaluated 126 infants with "pure" CoA (free of associated cardiac defects) and 67 infants with CoA and VSD (COA/VSD) in comparison to 3,572 controls.
The proportion of infants with associated extracardiac anomalies was greater among CoA/VSD than among pure CoA (31% versus 11%). Infants with CoA/VSD were twice as likely as those with pure CoA to be born small for gestational age (23% versus 12%, respectively, compared with 6% of controls). All-cause mortality during the first year of life was higher in CoA/VSD than in pure CoA (21% vs. 7%). Multiple logistic regression models revealed that family history of CCVM was associated with pure CoA (adjusted case-control odds ratio [OR] = 4.6; 99% confidence interval [CI] = 1.5-13.9) and with CoA/VSD (OR = 5.9, CI = 1.2-23.5); maternal history of organic solvent exposures early in pregnancy was also associated with pure CoA (OR = 3.2, CI = 1.0-10.2) and with CoA/VSD (OR = 3.7, CI 0.9-14.9). Additional risk factors, including maternal epilepsy (OR = 5.3, CI = 0.9-30.6), and use of macrodantin (OR = 6.7, CI = 1.4-31.8) were associated only with pure CoA.
These findings highlight possible genetic and environmental differences between pure CoA and CoA/VSD and may stimulate further investigations of the etiology of CoA.
主动脉缩窄（CoA）是一种先天性心血管畸形（CCVM），有时与室间隔缺损（VSD）相关。尽管这种表型关联已有充分记录，但关于区分伴有和不伴有VSD的CoA的流行病学特征的研究却很少。
巴尔的摩-华盛顿婴儿研究（1981 - 1989年）是一项基于人群的CCVM研究，评估了126例患有“单纯”CoA（无相关心脏缺陷）的婴儿和67例患有CoA合并VSD（COA/VSD）的婴儿，并与3572例对照进行比较。
伴有心外异常的婴儿比例在CoA/VSD组中高于单纯CoA组（分别为31%和11%）。CoA/VSD婴儿出生时小于胎龄的可能性是单纯CoA婴儿的两倍（分别为23%和12%，而对照组为6%）。CoA/VSD组1岁以内的全因死亡率高于单纯CoA组（21%对7%）。多因素逻辑回归模型显示，CCVM家族史与单纯CoA相关（校正病例对照比值比[OR]=4.6；99%置信区间[CI]=1.5 - 13.9）以及与CoA/VSD相关（OR = 【此处原文有误，应为5.9】5.9，CI = 1.2 - 23.5）；孕期早期有机溶剂暴露的母亲史也与单纯CoA相关（OR = 3.2，CI = 1.0 - 10.2）以及与CoA/VSD相关（OR = 3.7，CI 0.9 - 14.9）。其他危险因素，包括母亲癫痫（OR = 5.3，CI = 0.9 - 30.6）和使用呋喃妥因（OR = 6.7，CI = 1.4 - 31.8）仅与单纯CoA相关。
这些发现突出了单纯CoA和CoA/VSD之间可能存在的遗传和环境差异，并可能促使对CoA病因进行进一步研究。
