ECHOCARDIOGRAPHIC EVALUATION OF THE SPECTRUM OF CARDIAC ANOMALIES ASSOCIATED WITH TRISOMY-13 AND TRISOMY-18
ECHOCARDIOGRAPHIC EVALUATION OF THE SPECTRUM OF CARDIAC ANOMALIES ASSOCIATED WITH TRISOMY-13 AND TRISOMY-18
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DOI：
10.1016/0735-1097(90)90644-5
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发表时间：
1990-03-01
影响因子：
24
通讯作者：
FREEDOM, RM
中科院分区：
文献类型：
--
作者：
MUSEWE, NN;ALEXANDER, DJ;FREEDOM, RM
为了探讨心脏异常在13三体和18三体综合征中常见的早期死亡中的作用，我们回顾了一个机构在4.5年（1983年至1988年）内观察到的31例新生儿的二维和多普勒超声心动图，这些新生儿的细胞遗传学证实了这些综合征。超声心动图检查的平均年龄为1.5天，死亡时的中位年龄为14天。58%的患者出现明显的发绀。在新生儿期被认为是致命的心脏异常仅出现在19%的患者中。最常见的病变为房间隔缺损（81%）、室间隔缺损（61%）和动脉导管未闭（85%）。大部分室间隔缺损和动脉导管未闭是大的。在68%的受试者中发现了一个或多个瓣膜的瓣膜发育不良，在大多数情况下分级为轻度，但与任何受试者中显著返流或狭窄的多普勒证据无关。在四个瓣膜中，肺动脉瓣，其次是三尖瓣，是最常见的发育不良。多普勒证据提示肺动脉压升高（通过室间隔缺损和动脉导管未闭的低速双向血流），尽管是预期的，但这些患者的右心室腔和游离壁平均尺寸大于正常。因此，尽管13三体和18三体中最常见的心脏异常是非致死性的，但频繁的紫绀和右心室尺寸增加的综合结果表明，其他因素，如肺动脉高压，可能与肺血管发育不良有关，可能导致其中一些婴儿的早期死亡。
To investigate the role that cardiac anomalies play in the early death frequently seen in the trisomy 13 and the trisomy 18 syndromes, two-dimensional and Doppler echocardiograms from 31 newborn infants with cytogenetic confirmation of these syndromes seen at one institution over a 4.5 year period (1983 to 1988) were reviewed. The mean age at echocardiography was 1.5 days, and the median age at death was 14 days. Significant cyanosis was present in 58%. Cardiac anomalies that would be considered lethal within the neonatal period were present in only 19% of patients. The most common lesions were atrial septal defect (81%), ventricular septal defect (61%) and patent ductus arteriosus (85%). Most ventricular septal defects and patent ductus arteriosi were large. Valvular dysplasia of one or more valves, graded as mild in most cases, was found in 68%, but was not associated with Doppler evidence of significant regurgitation or stenosis in any subject. Of the four valves, the pulmonary valve, followed by the tricuspid valve, was the most commonly dysplastic. Doppler evidence suggestive of elevated pulmonary artery pressure (low velocity bidirectional flow across the ventricular septal defect and patent ductus arteriosus), although expected, was accompanied by greater than normal mean right ventricular cavity and free wall dimensions in these patients. Thus, although the cardiac anomalies most frequently encountered in trisomy 13 and trisomy 18 are nonlethal, the combined findings of frequent cyanosis and increased right ventricular dimensions suggest that other factors such as pulmonary hypertension, perhaps related to maldevelopment of the pulmonary vasculature, may contribute to early death in some of these infants.