title: Mirror-image type D interrupted aortic arch: a novel cardiac phenotype providing some perspective in the del22q11.2 syndrome.
abstract: A 1-day-old baby boy was referred from a local obstetric clinic due to feeble crying, tachypnea, and tachycardia. Two-dimensional echocardiography with Doppler and multidetector computer tomography showed mirror-image type D interrupted aortic arch, conotruncal ventricular septal defect, and patent ductus arteriosus. Emergency cardiac surgery by a biventricular Norwood procedure was performed to relieve his symptom and sign of congestive heart failure successfully. Thymus could not be seen by surgical exploration of the superior mediastinum. Serum C-terminal parathyroid hormone was decreased to less than the normal lower limit. Cytogenetic analysis and fluorescence in situ hybridization study of blood revealed a deletion in chromosome 22q11.2. To the best of our knowledge, mirror-image type D interrupted aortic arch has never been reported in patients with the del22q11.2 syndrome in the English literature. This unusual aortic arch anomaly may provide us a new perspective in the spectrum of cardiovascular malformations in the del22q11.2 syndrome and advocate 22q11.2 deletion as one of the genetic causes of some rare aortic arch anomalies and their correspondent mirror-images.
authors.forename: Meng-Luen
authors.initials: ML
authors.lastname: Lee
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Albert D
authors.initials: AD
authors.lastname: Yang
authors.forename: Ing-Sh
authors.initials: IS
authors.lastname: Chiu
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D001018:Aortic Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014057:Tomography, X-Ray Computed