经超声心动图产前诊断胎儿肺动脉瓣缺如综合征12例分析

Prenatal diagnosis of absent pulmonary valve syndrome by fetal echocardiography： retrospective analysis of 12 cases

目的探讨经超声心动图产前诊断胎儿肺动脉瓣缺如综合征的方法。方法纳入2015年7月至2017年4月在广东省心血管病研究所产前诊断的胎儿肺动脉瓣缺如综合征孕妇12例，回顾分析并总结胎儿肺动脉瓣缺如综合征的影像学特点。结果所有病例在扫查过程中均可探及主肺动脉及左、右肺动脉的明显扩张，扩张的肺动脉在1例病例中压迫气管、食管，在2例病例中压迫肺组织，彩色多普勒可探及肺动脉内收缩期及舒张期的双期湍流，肺动脉瓣环处探及大量反流，即“金鱼尾”征。所有胎儿均为左位心，房室连接一致。11例胎儿有大血管位置异常伴室间隔缺损；1例大血管位置正常，室间隔完整，伴左肺动脉远端发育不良及心包积液。4例伴动脉导管缺如；2例心胸面积比增大，5例伴程度各异的心肌增厚。所有病例脐动脉收缩期峰值和舒张末期流速之比及阻力指数均在正常范围之内。结论典型的胎儿肺动脉瓣缺如综合征无法探及肺动脉瓣反射或仅探及肺动脉瓣残端，伴主肺动脉及左、右肺动脉显著扩张及肺动脉瓣环狭窄和大量肺动脉反流。常伴畸形为圆锥动脉干畸形，但仍需注意是否合并其他心脏大血管畸形。

Objective To summarize the echocardiographic features of fetal absent pulmonary valve syndrome （APVS）. Methods Clinical data and echocardiograms of 12 cases of fetal APVS prenatally diagnosed in the Department of Pediatric Cardiology, Guangdong Cardiovascular Institute from July 2015 to April 2017 were reviewed retrospectively and the echocardiographic features of APVS were summarized. Results Aneurysmal dilation of the main pulmonary artery and branches arteries were found in all cases, causing tracheal and esophageal compression in one case and lung compression in two cases. Color Doppler revealed systolic and diastolic turbulent blood flow with ＂to-and-fro＂ blood flow in pulmonary arteries and pulmonary regurgitation. All fetuses were situs solitus and atrioventricular concordance. Eleven cases were also identified with malposition of the great arteries accompanied with ventricular septal defect, while the other one with normally related great arteries and intact ventricular septum was diagnosed with dysplasia of distal left pulmonary artery and pericardial effusion. Absent ductus arteriosus, increased cardiothoracic ratio and myocardial hypertrophy were found in four, two and five cases, respectively. Fetal umbilical arterial systolic/diastolic ratio and resistance index of all cases were normal. Conclusions Typical APVS is characterized by absent or rudimentary pulmonary valve accompanied with prominant dilated pulmonary arteries, pulmonary valve stenosis and severe pulmonary regurgitation. It is usually accompanied by conotruncal defects, but attention should also be paid to other atypical cardiac abnormalities during screening.