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 septal 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. Although 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. Recently, 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 pulmonary 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 confirmed 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.
Arm ; Dilatation ; Fluorescence ; Heart Failure ; Heart Septal Defects, Ventricular ; Humans ; In Situ Hybridization ; Infant ; Critical Care ; Parturition ; Pulmonary Artery ; Pulmonary Valve* ; Tetralogy of Fallot*