title: [Aorto-pulmonary collaterals in an infant with 22q11 monosomy].
abstract: The authors present the case of a young girl in whom the diagnosis of pulmonary atresia with ventricular septal defect and multiple aorto-pulmonary collateral vessels was established in the context of microdeletion of chromosome 22. Surgical treatment was excluded following the discovery by angiography of the absence of central pulmonary arteries, a multifocal pulmonary collateral circulation and the appearance of multiple peripheral pulmonary artery stenoses on various aorto-pulmonary collateral vessels during the first months of life. This case illustrates the hypothesis recently developed in the literature according to which the chromosomal abnormality is responsible not only for an anomaly of conotrunkal septation, but also early disorders of branching of the pulmonary vascular bed and disturbances of the connection of peripheral pulmonary segments to central arteries, which are responsible for severe pulmonary vascular abnormalities making biventricular repair of this heart disease in children with 22q11 microdeletion almost always impossible.
authors.affiliation: Service de Cardiopédiatrie, CHR Citadelle, Université de Liège, Belgique.
authors.forename: M M
authors.initials: MM
authors.lastname: Massin
authors.forename: A
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D001011:Aorta; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003097:Collateral Circulation; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009006:Monosomy / Q000235:genetics; D011651:Pulmonary Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D018633:Pulmonary Atresia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D011859:Radiography