Association of pulmonary atresia with intact ventricular septum and aortic valve stenosis. Prenatal diagnosis

Abstract

A rare association of pulmonary atresia with an intact septum was diagnosed through echocardiography in a fetus 32 weeks of gestational age. The diagnosis was later confirmed by echocardiography of the newborn infant and further on autopsy. The aortic valve was bicuspid with a pressure gradient of 81 mmHg, and the right ventricle was hypoplastic, as were the pulmonary trunk and arteries, and the blood flow was totally dependent on the ductus arteriosus.

Pulmonary atresia with intact ventricular septum associated with aortic coarctation

“…Those that have been documented include Fallot's tetralogy and aortic coarctation, [1][2][3] valvar stenosis and coarctation, [4][5][6] the combination of tricuspid and pulmonary atresia with coarctation, 7 and valvar pulmonary stenosis or atresia with aortic stenosis. 8,9 These combinations are difficult to explain in terms of embryology, but clearly do exist. Pulmonary atresia with an intact ventricular septum associated with left-sided obstructive lesions is extremely rare.…”

“…It is rare to find the combination of right- and left-sided obstructive lesions of the cardiac outflow tracts, with very few cases previously described. Those that have been documented include Fallot’s tetralogy and aortic coarctation, 1 – 3 pulmonary valvar stenosis and coarctation, 4 – 6 the combination of tricuspid and pulmonary atresia with coarctation, 7 and valvar pulmonary stenosis or atresia with aortic stenosis 8 , 9 . These combinations are difficult to explain in terms of embryology, but clearly do exist.…”