Prenatal Diagnosis and Successful Palliation of Absent Aortic Valve with Hypoplastic Left Heart Syndrome: A Case Report and Review of Literature

Abstract

Introduction Congenital absence of the aortic valve leaflets is a rare association with hypoplastic left heart syndrome (HLHS). Case 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. Conclusion 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.

A rare prenatal diagnosis: congenital absence of aortic valve

“…Although mostly fatal cases with hydrops were presented in the literature, rare cases reported by Harada, Krasemann, and Qasim et al, who were born alive without hydrops and operated, were also reported. 1,3,4 Usually, two different haemodynamic presentations with different clinical outcomes were reported about the congenital absence of the aortic valve. 2,5 One of them is associated with mitral regurgitation and non-restrictive foramen ovale, which generally causes severe hydrops and intrauterine foetal death.…”

“…Unlike the congenital absence of the pulmonary valve, the congenital absence of the aortic valve is mostly fatal, resulting in hydrops, foetal demise, or early neonatal death. 1,2 The absence of the aortic valve is mainly characterised by the absence of aortic valve structure and free regurgitation of the valve, decreased left ventricular functions, a malignant circulation called an inverse circulatory shunt in which severe mitral regurgitation is directed to the right atrium through foramen ovale. We want to demonstrate the images of this rare pathology with the inverse circulatory shunt.…”