Untitled

Abstract

Absence of the aortic valve (AAV) is a very rare congenital heart defect, unlike the absence of pulmonary valves. AAV is usually associated with other cardiac and non-cardiac anomalies. Most of the previously reported cases have been in spontaneously aborted fetuses, underscoring the high mortality of this heart defect. Case A 37-year-old pregnant female (Gravida 5, Para 3) was referred for fetal echocardiogram (ECHO) due to concerns of hypoplastic left heart (HLH) on anatomy ultrasound scan. Fetal ECHO at 22 weeks was significant for a hypoplastic left atrium, nearly atretic mitral valve, small nonapex forming left ventricle (LV), hypoplastic aortic valve with severe aortic insufficiency (►Fig. 1). Serial fetal ECHOs showed the same findings throughout pregnancy. No evidence of hydrops was seen. At 39-week gestation, a female infant was delivered with a birth weight 3.2 kg and Apgar's scores of 8 and 8 at 1 and 5 minutes, respectively. Prostaglandin E-1 (0.05 mcg/kg/ min) infusion was started within an hour of delivery. Postnatal ECHO findings (►Fig. 2, ►Video 1) showed HLH variant with absent aortic valve and severe aortic insufficiency, a large PDA, moderate sized atrial septal defect (ASD), and poor left ventricular posterior wall function. The LV was diffusely echogenic but there was no clear endocardial fibro elastosis.