Absent aortic valve and isolated right brachiocephalic artery: A complex congenital heart defect

Özet

Absent aortic valve (AAV) is a rare congenital heart anomaly associated with a high mortality rate. AAV is detectable in the perinatal period and is frequently associated with other cardiac anomalies, including double outlet right ventricle (DORV), hy-poplastic left heart syndrome, dysplastic pulmonary valve, and mitral atresia (1, 2). The pathogenesis is yet unknown; however, underdevelopment of the endocardial cushion tissue at the ven-triculoarterial junction may be the probable etiology (3, 4). AAV is associated with severe aortic regurgitation (AR) that can lead to rapid and progressive heart failure, accompanied by growth retardation in the fetus, and ultimately fetal demise.Twenty-six cases have been reported since Toews reported the first case in 1975, and most of the reported cases died a cou-ple of weeks after birth (5). In this paper, a newborn diagnosed with AAV associated with DORV, isolated right brachiocephalic artery with severe stenosis in the origin, and severe AR is de-scribed as an exceedingly rare clinical presentation.