Pulmonary Valve Absence and Tetralogy of Fallot in CATCH 22

Congenital absence of the pulmonary valve associated with Tetralogy of Fallot(TOF) is a relatively rare cardiac malformation. In the majority of cases, this lesion is associated with ventricular sep- tal defect, obstructive pulmonary valve annulus, and massive dilatation of the pulmonary arteries. This combination of lesions is often called tetralolgy of Fallot and absent pulmonary valve. Al- though survival beyond infancy is frequent, a number of infants with the severe form of this syndrome die early with signs of severe respiratory distress and intractable cardiac failure. Re- cently, absent pulmonary valve has been described in a feature of CATCH 22 syndrome with microdeletion of the long arm of chromosome 22(22q11.1). We have experienced a patient of pul- monary valve absence associated with TOF, who was presented with severe respiratory distress and heart failure after birth. She died in the neonatal period despite intensive care. She was con- firmed to have microdeletion of 22q11.1 by fluorescence in situ hybridization. We report a case of pulmonary valve absence associated with TOF with microdeletion of chromosome 22q11.1 with related literature. (J Korean Pediatr Soc 2002;45:137-140)