Qasim Amna, Johnson Chelsea B, Aly Muhammad A, Aly Ashraf M
Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas.
Division of Pediatric Cardiology, University of Texas Medical Branch, Galveston, Texas.
AJP Rep. 2019 Apr;9(2):e121-e126. doi: 10.1055/s-0038-1677480. Epub 2019 Apr 9.
Congenital absence of the aortic valve leaflets is a rare association with hypoplastic left heart syndrome (HLHS). A 37-year-old pregnant woman was referred for fetal evaluation of possible HLHS at 22 weeks of gestation. The fetal echocardiogram (ECHO) was remarkable for a hypoplastic left atrium, nearly atretic mitral valve, small left ventricle, and a hypoplastic aortic valve with severe aortic insufficiency. A female infant was born at term and postnatal ECHO confirmed the above findings. In addition, there was complete absence of the aortic valve leaflets. The patient underwent Norwood's procedure at day 5 of life with atrial septectomy, over-sewing of the aortic valve annulus, and a 4 mm Sano's shunt between the right ventricle and the main pulmonary artery. She tolerated this surgery well and subsequently underwent a bidirectional Glenn's procedure at 8 months of life. Prenatal diagnosis of absent aortic valve should be suspected in the presence of severe aortic insufficiency in the fetal ECHO. Early postnatal intervention is critical as those patients are likely to deteriorate quickly. The over-sewing of the aortic valve may be important to prevent coronary steal and myocardial hypoperfusion which could potentially be detrimental.
先天性主动脉瓣叶缺如与左心发育不全综合征（HLHS）相关，较为罕见。一名37岁孕妇在妊娠22周时因可能患有HLHS而前来接受胎儿评估。胎儿超声心动图（ECHO）显示左心房发育不全、二尖瓣几乎闭锁、左心室小以及主动脉瓣发育不全并伴有严重主动脉瓣关闭不全。一名足月女婴出生，产后ECHO证实了上述发现。此外，主动脉瓣叶完全缺如。该患者在出生后第5天接受了诺伍德手术，包括房间隔切除术、主动脉瓣环缝闭以及在右心室和主肺动脉之间建立4毫米的桑诺分流。她对该手术耐受性良好，随后在8个月大时接受了双向格林手术。胎儿ECHO出现严重主动脉瓣关闭不全时，应怀疑产前诊断为主动脉瓣缺如。产后早期干预至关重要，因为这些患者可能很快病情恶化。主动脉瓣缝闭对于预防可能有害的冠状动脉窃血和心肌灌注不足可能很重要。
