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. 1998 Feb;79(2):180–185. doi: 10.1136/hrt.79.2.180

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

M Hofbeck 1, A Rauch 1, G Buheitel 1, G Leipold 1, J von der Emde 1, R Pfeiffer 1, H Singer 1
PMCID: PMC1728610  PMID: 9538313

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 difference 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.

 Keywords: CATCH 22;  pulmonary atresia and ventricular septal defect;  major aortopulmonary collateral arteries;  conotruncal anomaly face syndrome

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Figure 1  .

Figure 1  

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Conotruncal anomaly facies in patient 3. 

Figure 2  .

Figure 2  

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Metaphase spread after FISH with D22S75 probe in patient 5. The normal chromosome 22 has four fluorescein signals (arrow) representing the control (D22S39) and CATCH 22 regions (D22S75) on both chromatids. The chromosome 22 with a deletion has only two signals (open arrow) representing the control probe, but absent signals at 22q11.

Figure 3  .

Figure 3  

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Selective injection into a major aortopulmonary collateral artery shows severe intrapulmonary stenoses of left pulmonary artery segments in a patient with monosomy 22q11 (A). Late frames following injection in the descending aorta (B) reveal the presence of severely hypoplastic central pulmonary arteries (arrows).    

Figure 4  .

Figure 4  

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Unifocal pulmonary blood supply in a patient of group II (A). Balloon blockade angiography in the descending aorta shows filling of the central pulmonary arteries through a large major aortopulmonary collateral artery (arrow). Angiography at a lower level (B) reveals a second major aortopulmonary collateral connecting to the left pulmonary artery, with retrograde filling of the bifurcation (dual blood supply of the central pulmonary arteries).

Selected References

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