Yu Lan, Ding Guilan, Wan Hong'e
Department of Ultrasound Medicine, Urumqi Maternal and Child Health Care Hospital, Urumqi, China.
Transl Pediatr. 2025 Jan 24;14(1):153-160. doi: 10.21037/tp-22-198. Epub 2025 Jan 20.
Congenital diaphragmatic hernia (CDH) and congenital diaphragmatic eventration (CDE) are rare congenital anomalies. They occur in approximately one in 2,000-3,000 and 2,500-5,000 children respectively. It is difficult to distinguish between CDE and right diaphragmatic hernia in fetal period, which can cause changes in the position of the heart and lead to dysplasia of the right lung; absence of the right lung can lead to secondary dextrocardia. These are common in dextrocardia and lung agenesis, which are the main obstacles for diagnosis.
This paper reports on three cases of fetal extracardiac structural abnormalities leading to secondary cardiac position changes. Two cases were identified with excessive left displacement of the fetal heart due to congenital right diaphragmatic hernia (right lobe of liver) and congenital right diaphragmatic eventration, respectively. The third case was diagnosed by prenatal echocardiography as having primary dextrocardia with an abnormal origin of the right pulmonary artery. Comparative analysis of pathological results after induced labor showed that two cases were in accordance with prenatal ultrasound diagnosis, and the third case showed that the absence of right lung resulted in secondary dextrocardia and persistent left superior vena cava.
CDH and severe diaphragmatic eventration involve three systems: respiration, circulation and digestion. When ultrasound finds that the fetal heart is abnormal, further check is needed to see whether there are lesions in the heart, lung, diaphragm and abdomen; secondary dextrocardia is more common in the absence or dysplasia of the right lung.
先天性膈疝(CDH)和先天性膈膨升(CDE)是罕见的先天性异常。它们分别发生于约2000 - 3000名儿童中的1例和2500 - 5000名儿童中的1例。在胎儿期难以区分CDE和右膈疝,这可导致心脏位置改变并导致右肺发育不良;右肺缺如可导致继发性右位心。这些在右位心和肺不发育中很常见,是诊断的主要障碍。
本文报告3例胎儿心外结构异常导致继发性心脏位置改变的病例。2例分别因先天性右膈疝(肝右叶)和先天性右膈膨升导致胎儿心脏过度左移。第3例经产前超声心动图诊断为原发性右位心伴右肺动脉异常起源。引产术后病理结果对比分析显示,2例与产前超声诊断相符,第3例显示右肺缺如导致继发性右位心和永存左上腔静脉。
CDH和严重膈膨升累及呼吸、循环和消化三个系统。超声发现胎儿心脏异常时,需进一步检查心脏、肺、膈肌和腹部是否有病变;右肺缺如或发育不良时继发性右位心较为常见。