Absent pulmonary valve syndrome with apical muscular VSD

Abstract

The absent pulmonary valve syndrome includes absence or rudimentary development of the pulmonary valve leaflets, pulmonary annular hypoplasia, and dilated pulmonary arteries. Presentation is often in infancy with severe respiratory symptoms secondary to bronchial compression by the dilated pulmonary arteries or respiratory infections. This syndrome is usually associated with other congenital, cardiac malformations. The following is a case report of an infant with absent pulmonary valve syndrome associated with an apical muscular VSD, which is, in our opinion the first case published.