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Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

Doff B. McElhinney, MD^* , Bernard J. Clark, III, MD^* , Paul M. Weinberg, MD^* , Maura L. Kenton, MS, Donna McDonald-McGinn, MS, Deborah A. Driscoll, MD , Elaine H. Zackai, MD and Elizabeth Goldmuntz, MD^*

^* Division of Pediatric Cardiology, Philadelphia, Pennsylvania, USA
Human Genetics and Molecular Biology, Philadelphia, Pennsylvania, USA
Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Department of Pediatrics, Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA

View larger version (23K): [in a new window]   Figure 1 Schematic diagrams of a normal aortic arch and seven of the various forms of anomalous aortic arch laterality or branching included in this study, depicted as the segments of the pharyngeal arch system that regresses (shown in black) in order for the mature vascular anatomy to develop. Anomalies with a cervical aortic arch are not depicted. (A) Normal aortic arch. (B) Double aortic arch. The dominant and minor arches can vary in laterality and specific patterns of branching and segmental hypoplasia/atresia. These variables are not specified in the present diagram. All patients with a double aortic arch had a left-sided ductus arteriosus (L PDA). (C) Double aortic arch with nonconfluent pulmonary arteries and origin of the right pulmonary artery (RPA) from the right ductus (R PDA). (D) Right aortic arch with mirror-image branching of the brachiocephalic vessels and right/bilaterial ductus arteriosus (hatched segments). (E) Right aortic arch with mirror-image branching of the brachiocephalic vessels and a left-sided ductus from the descending aorta to the left pulmonary artery (LPA). (F) Right aortic arch with mirror-image branching of the brachiocephalic vessels, bilateral ductus, absence of the proximal LPA and origin of the LPA from the left-sided innominate artery via the left ductus. (G) Right aortic arch with aberrant left subclavian artery (L SCA) arising from a retroesophageal diverticulum and an L PDA to the LPA. (H) Left aortic arch with aberrant right subclavian artery (R SCA). L CCA = left common carotid artery; R CCA = right common carotid artery.