Supplementary Material for: Unusual Aortic Valve Anomaly in the Fetus: A Case Report

Aortic valve anomalies in fetal life usually concern aortic valve stenosis, in severe forms associated to left ventricular impairment – endocardial fibroelastosis and mitral valve insufficiency. Isolated aortic regurgitation in utero is infrequent and is usually considered to be due to a rare anomaly: aorto-left ventricular tunnel. We describe an unusual case of fetal aortic valve anomaly with severe dysplasia, with a marked regurgitant flow through the aortic valve, passing in a retrograde way from the duct, associated with a marked left ventricular endocardial fibroelastosis and dysfunction, resulting in the fatal outcome of the case.

胎儿期主动脉瓣异常（Aortic valve anomalies）通常以主动脉瓣狭窄（aortic valve stenosis）为主要表现，重症病例可合并左心室功能受损（left ventricular impairment），具体可表现为心内膜弹力纤维增生症（endocardial fibroelastosis）与二尖瓣关闭不全（mitral valve insufficiency）。宫内孤立性主动脉瓣反流（isolated aortic regurgitation）较为少见，既往多认为其罕见致病原因为主动脉左心室隧道（aorto-left ventricular tunnel）。本研究报道1例罕见的胎儿期主动脉瓣异常病例：该病例存在主动脉瓣严重发育不良，可见经主动脉瓣的显著反流血流，且反流血流自动脉导管（duct）逆行灌注，同时合并显著的左心室心内膜弹力纤维增生症与左心室功能障碍，最终导致该病例出现致命结局。