Diagnosis and treatment of pulmonary atresia and ventricular septal defect

Surgical repair of the intracardiac anatomy in patients with pulmonary atre sia and ventricular septal defect can be performed today with a low operati ve mortality. Diagnostic and therapeutic problems in these patients are alm ost exclusively related to the nature of collateral lung perfusion and asso ciated anomalies of the pulmonary vascular bed. These anomalies are frequen tly found in patients with major aortopulmonary collateral arteries and inc lude multifocal pulmonary blood supply, hypoplasia, stenosis, or arborizati on anomalies of the pulmonary arteries. Diagnostic methods must focus on an exact identification of the collateral pulmonary blood supply, the presenc e and size of central pulmonary arteries, and the connections of the arteri al segments. Recent genetic studies have shown that monosomy 22q11.2 is fou nd in 25-32% of children with pulmonary atresia and ventricular septal defe ct. This microdeletion is significantly more frequent in patients with majo r aortopulmonary collateral arteries and it seems to be associated with a h igher percentage of pulmonary arterial anomalies. During recent years, effo rts have concentrated on earlier treatment of patients with pulmonary atres ia with ventricular septal defect with combined catheter and surgical inter ventions. Early establishment of antegrade flow to the central pulmonary ar teries stimulates growth of the pulmonary arteries, optimizes the angiograp hic diagnosis of abnormalities of the pulmonary vascular bed, and allows fo r the possibility of balloon angioplasty or stenting of the central pulmona ry arteries. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.