Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries

Abstract

Objective-To describe the morphology of the pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries with and without monosomy 22q11. Design-A retrospective analysis of all patients with this congenital heart defect who are being followed at the University Children's Hospital Erlangen. Setting-A tertiary referral centre for paediatric cardiology and paediatric cardiac surgery. Patients-21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hybridisation using the D22S75 probe (Oncor). The morphology of the pulmonary arteries was assessed on the basis of selective angiograms. Results-10 patients (48%) were shown to have a microdeletion in 22q11 (group I). There was no diVerence with respect to the presence of confluent central pulmonary arteries between these patients (80%) and the remaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pulmonary 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 22q11, though repair had been carried out in 64% of the children in group II. Conclusions-The developmental disturbance caused by monosomy 22q11 seems to impair the connection of the peripheral pulmonary artery segments to the central pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries, resulting in a lower probability of biventricular repair. (Heart 1998;79:180-185 In the majority of cases with tetralogy of Fallot and pulmonary atresia, collateral lung perfusion is provided either by a unilateral or bilateral arterial duct or by major aortopulmonary collateral arteries.9 10 According to the findings of Momma et al the presence of major aortopulmonary collateral arteries is associated in a high percentage with monosomy 22q11.2 Among their cohort of 49 patients with pulmonary atresia and ventricular septal defect, monosomy 22q11 was present in 21 of 34 children with collateral lung perfusion by major aortopulmonary collateral arteries.2 The purpose of our study was to determine additional anomalies of the pulmonary vascular bed and to define their impact on the treatment in the subgroup of patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. MethodsAll 21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries who are at present being followed at our institution were included in this retrospective study. These patients were not strictly consecutive, since several children who had been diagnosed during recent years had been lost to follow up or had died.Metaphase chromosomes of peripheral blood lymphocytes were analysed after GTG banding and b...

The management of pulmonary atresia, ventricular septal defect, and multiple aorta pulmonary collateral arteries by definitive single stage repair in early infancy✩

“…More recently these syndromes have been incorporated as a group under the acronym CATCH 22 (cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, and micro deletion 22q11 [17]). Two groups have recently demonstrated an association between patients with pulmonary atresia, ventricular septal defect, and major aorta pulmonary collateral arteries and monosomy 22q11 [12,18]. In both studies, anywhere from 40 to 48% of patients with pulmonary atresia, ventricular septal defect, and major aorta pulmonary collateral where shown to have a micro deletion in 22q11 [12,18].…”

“…Pulmonary atresia with ventricular septal defect represents an extreme form of tetrology of Fallot [12]. It may occur as an isolated lesion or as part of a genetic syndrome [13].…”

Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect

“…Angiographic data on 21 children have been the subject of a previous report [9]. Information on the cardiovascular anatomy was based in each patient on at least one cardiac catheterization.…”

Anatomic patterns of conotruncal defects associated with deletion 22q11

“…[23][24][25][26][27] A particular anatomic subtype was represented by the patients in which the pulmonary artery blood flow was supplied by major aortopulmonary collateral arteries (MAPCA). These patients present significant anatomic differences from those with confluent pulmonary arteries and a single ductus arteriosus so called TF with PA. Also the prevalence of deletion 22q11 is different in two groups: 16% in children with TF and PA (similar to that observed in patients with simple TF) and 41% in patients with PA, VSD, and MAPCA.…”