Absent aortic valve with normally related great arteries.

A neonate with absent aortic valve associated with membranous mitral atresia and normally related great arteries is reported. The patient was a 3360-g boy and was transferred to our hospital 4 h after birth because of severe cyanosis and respiratory distress. Absent aortic valve associated with mitral atresia was diagnosed on echocardiography. The patient died 4 days later with congestive heart failure. Postmortem examination revealed the aortic valve and sinus of Valsalva to be totally absent. The mitral valve showed membranous atresia. Severe endocardial fibroelastosis of the left ventricle, which was mildly dilated, and bizarre trabeculation were seen. This is the first case report of an absent aortic valve with normally related great arteries.