Pulmonary atresia with ventricular septal defect

Abstract

Pulmonary atresia with ventricular septal defect (PAVSD) is one of the cyanotic congenital heart diseases. It occurs due to under or maldevelopment of the right ventricular outflow tract along with atresia of the pulmonary valve and trunk. It also involves overriding of the aorta and a large ventricular septal defect. Previously it was termed as truncus arteriosus type IV. Whether it is a different entity or a severe form of Tetralogy of Fallot (TOF) is still controversial, but there is no denying the occurrence of PAVSD.The spectrum of this defect varies in presentation and severity largely depending on the degree to which the pulmonary artery atresia is present. The major difference between the usual presentation of TOF and PAVSD is the presence of normal pulmonary trunk and arteries in TOF. A second prominent difference is the presence of major aortopulmonary collateral arteries (MAPCA) in PAVSD. Another notable difference is the presence of pulmonary valve atresia in PAVSD, unlike TOF where the pulmonary valve stenosis is prominent. Some physicians prefer to call this entity as TOF with pulmonary atresia and MAPCA. Although when severe enough, TOF overlaps significantly with PAVSD and may even be managed as such, the management hardly changes so there is no ambiguity about consensus at least treatment-wise. For the purpose of this article, we are going to consider PAVSD as a separate entity from classical TOF.