MONOSOMY 22Q11 IN PATIENTS WITH PULMONARY ATRESIA, VENTRICULAR SEPTAL-DEFECT, AND MAJOR AORTOPULMONARY COLLATERAL ARTERIES

Objective - To describe the morphology of the pulmonary arteries in pa tients with pulmonary atresia, ventricular septal defect, and major ao rtopulmonary collateral arteries with and without monosomy 22q11. Desi gn - A retrospective analysis of all patients with this congenital hea rt defect who are being followed at the University Children's Hospital Erlangen. Setting - A tertiary referral centre for paediatric cardiol ogy and paediatric cardiac surgery. Patients - 21 patients with pulmon ary atresia, ventricular septal defect, and major aortopulmonary colla teral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hy bridisation using the D22S75 probe (Oncor). The morphology of the pulm onary arteries was assessed on the basis of selective angiograms. Resu lts - 10 patients (48%) were shown to have a microdeletion in 22q11 (g roup I). There was no difference with respect to the presence of confl uent central pulmonary arteries between these patients (80%) and the r emaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pul monary vascular bed (90% in group I v 27% in group II). Because of the more severe abnormalities of the pulmonary arteries, a biventricular repair had not been possible in any of the children with monosomy 22q1 1, though repair had been carried out in 64% of the children in group II. Conclusions - The developmental disturbance caused by monosomy 22q 11 seems to impair the connection of the peripheral pulmonary artery s egments to the central pulmonary arteries in patients with pulmonary a tresia, ventricular septal defect, and major aortopulmonary collateral arteries, resulting in a lower probability of biventricular repair.