Abstract
Congenital absence of aortic valve cusps is a rare congenital heart malformation,
which is commonly associated with other cardiac defects. Isolated absence of aortic
valve or one leaflet is extremely rare and has not been described antenatally. We
present the first case of a fetus with isolated congenital severe aortic regurgitation
from absent aortic cusp and pathological specimen of this rare entity. On fetal echocardiography
at 19 weeks of gestation, there were dilated aortic root and severe aortic regurgitation
causing ‘to and fro’ colour flow signals across left ventricular outflow. This caused
severe LV systolic dysfunction, significant ventricular dyssynchrony and cardiomegaly.
On fetal autopsy, aortic root was dilated. Left coronary cusp was absent while other
cusps showed mild thickening. Left ventricle was dilated and hypertrophied. Pulmonary
valve leaflets were normal.
Keywords
Aortic valve - Fetal Echocardiography - Aortic regurgitation
