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.
Keywords
fetal echocardiography (ECHO) - absent aortic valve - hypoplastic left heart syndrome
