胎儿左心发育不良综合征超声影像学与病理学特征研究

Assessment of ultrasonic imaging and pathological characteristics in fetuses with hypoplastic left heart syndrome

目的评价左心发育不良综合征（HLHS）胎儿心脏的超声影像学与病理学特征及右心室功能。方法25例初诊为HLHS的胎儿纳入研究进行二次超声心动图检测。收集12例引产HLHS胎儿心脏进行病理学检测。产前二次超声心动图影像与病理学检测对照。结果HLHS胎儿产前超声心动图显示的典型特征为左心室明显发育不良、二尖瓣狭窄或闭锁、主动脉闭锁或狭窄；主动脉与肺动脉内径比值较正常值显著下降（P〈0.01）；右心室与左心室内径比值较正常值显著升高（P〈0.01）。与胎龄相匹配的正常胎儿相比，HLHS胎儿右心室容量、每搏输出量、心输出量均明显增大（P〈0.01）；两组右心室射血分数差异无统计学意义（P〉0.05）。12例HLHS胎儿心脏病理解剖学结果与超声检测结果一致；其左心室心肌和主动脉壁存在广泛的肌纤维混乱和纤维化。 结论除了严重的解剖形态学畸形，HLHS胎儿还具有明确的左心室心肌和主动脉壁的组织学特征异常以及潜在性的右心室功能损害。

Objective To detect pathologic and prenatal echocardiography features of the heart in fetuses with hypoplastic left heart syndrome （HLHS） and evaluate their right ventricular（RV） function during the fetal stages. Methods Twenty-five fetuses initially diagnosed with HLHS were included and second echocardiography detection was performed. Twelve necropsy heart specimens were analyzed for pathological changes. The results of second prenatal echocardiographic imaging were compared with pathological examination. Results Prenatal echocardiography displayed the typical characteristics of HLHS as a severe underdevelopment of the left ventricle（LV） in the form of mitral stenosis or atresia and/or form of aortic atresia or stenosis, with a decreased ratio of aortic diameter to pulmonary artery diameter （ P 0.01 ） and a increased ratio of RV diameter to LV diameter （ P 〈0.01）. The RV volume, stroke volume, cardiac output in HLHS fetuses were increased compared with those from the gestational age matched normal controls （P 〈0.0l）. The RV ejection fraction showed no significant difference between HLHS fetuses and the controls （ P ：〉 0.05）. The results of pathological anatomy were in agreement with the results of echocardiography. A wide range of muscle fiber disorder and fibrosis were detected in the left ventricular myocardium and aortic wall. Conclusions In addition to severe anatomic abnormalities, the HLHS fetus also has clear histological abnormalities of the LV myocardium and aortic wall, as well as the potential of the RV dysfunction.