Rao P Syamasundar
Children's Heart Institute, Children's Memorial Hermann Hospital, McGovern Medical School, University of Texas-Houston, Houston, TX 77030, USA.
Children (Basel). 2022 Jul 30;9(8):1148. doi: 10.3390/children9081148.
Mitral atresia with normal aortic root is a rare complex congenital heart defect (CHD) and constitute less than 1% of all CHDs. In this anomaly, the mitral valve is atretic, a patent foramen ovale provides egress of the left atrial blood, either a single ventricle or two ventricles with left ventricular hypoplasia are present, and the aortic valve/root are normal by definition. Clinical, roentgenographic and electrocardiographic features are non-distinctive, but echo-Doppler studies are useful in defining the anatomic and pathophysiologic components of this anomaly with rare need for other imaging studies. Treatment consists of addressing the pathophysiology resulting from defect and associated cardiac anomalies at the time of initial presentation, usually in the early infancy. These children eventually require staged total cavo-pulmonary connection (Fontan) in three stages. Discussion of each of these stages were presented. Complications are observed in-between the stages of Fontan surgery and following completion of Fontan procedure. Attempts to monitor for early detection of these complications and promptly addressing the complications are recommended.
二尖瓣闭锁合并主动脉根部正常是一种罕见的复杂先天性心脏病（CHD），占所有CHD的比例不到1%。在这种异常情况下，二尖瓣闭锁，卵圆孔未闭为左心房血液提供流出通道，存在单心室或左心室发育不全的双心室，并且根据定义主动脉瓣/根部正常。临床、X线和心电图特征不具有特异性，但超声多普勒研究有助于明确这种异常的解剖和病理生理成分，很少需要其他影像学检查。治疗包括在初次就诊时，通常是在婴儿早期，解决由缺陷和相关心脏异常导致的病理生理问题。这些儿童最终需要分三个阶段进行全腔静脉-肺动脉连接术（Fontan手术）。文中对每个阶段进行了讨论。在Fontan手术各阶段之间以及Fontan手术完成后会观察到并发症。建议尝试监测以早期发现这些并发症，并及时处理这些并发症。
