Department of Pediatrics, Faculty of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Mario Palmério University Hospital, University of Uberaba (UNIUBE), Uberaba, Brazil.
J Clin Ultrasound. 2021 Mar;49(3):240-247. doi: 10.1002/jcu.22973. Epub 2021 Jan 4.
Total anomalous pulmonary venous connection (TAPVC) is a rare cyanotic congenital heart disease that accounts for less than 1% of all congenital heart diseases. TAPVC is characterized by the absence of pulmonary venous drainage into the left atrium. It is underdiagnosed in utero, with prenatal detection rates of less than 1.4%. The prenatal diagnosis of TAPVC affects the postnatal outcome, particularly in obstructive forms (critical TAPVC), since planned delivery and perinatal management are mandatory. Thus, identifying the ultrasound key markers of TAPVC is important for the prenatal diagnosis and perinatal assistance. The ventricular size discrepancy (right ventricle > left ventricle) can be a useful marker. Furthermore, the increased retroatrial distance between the left atrium and the aorta could be a diagnostic marker for prenatal TAPVC, especially when the left atrium is small. Three- (3D) and four-dimensional ultrasonography may improve the prenatal diagnosis of TAPVC. This study reviews the two (2D) and 3D ultrasonographic markers used in the antenatal diagnosis of TAPVC, with a focus on the tools that can be used by sonographers, obstetricians, and fetal medicine specialists to improve the prenatal diagnosis of TAPVC, and when to refer the case to a fetal cardiac specialist.
完全性肺静脉异位连接（TAPVC）是一种罕见的紫绀型先天性心脏病，占所有先天性心脏病的比例不到 1%。TAPVC 的特征是肺静脉没有引流到左心房。它在子宫内被漏诊，产前检出率小于 1.4%。TAPVC 的产前诊断影响围生期结局，特别是在梗阻性（严重 TAPVC）形式中，因为需要计划性分娩和围生期管理。因此，识别 TAPVC 的超声关键标志物对于产前诊断和围生期干预非常重要。心室大小差异（右心室>左心室）可以作为一个有用的标志物。此外，左心房与主动脉之间的后房距离增加可能是产前 TAPVC 的一个诊断标志物，尤其是当左心房较小时。三维（3D）和四维超声可能会提高 TAPVC 的产前诊断率。本研究回顾了用于 TAPVC 产前诊断的二维（2D）和 3D 超声标志物，重点介绍了超声医师、产科医生和胎儿医学专家可以使用的工具，以提高 TAPVC 的产前诊断水平，以及何时将病例转介给胎儿心脏专家。
