Mirror-image type D interrupted aortic arch: A novel cardiac phenotype providing some perspective in the del22q11.2 syndrome
Journal
International Journal of Cardiology
Journal Volume
141
Journal Issue
3
Pages
e47-e50
Date Issued
2010
Author(s)
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. ? 2008 Elsevier Ireland Ltd. All rights reserved.
SDGs
Other Subjects
parathyroid hormone; prostaglandin E1; aorta arch anomaly; article; carboxy terminal sequence; case report; chromosome analysis; chromosome deletion; chromosome deletion 22; clinical feature; congestive heart failure; crying; del22q11.2 syndrome; Doppler echocardiography; fluorescence in situ hybridization; heart ventricle septum defect; human; infant; male; mediastinum; multidetector computed tomography; Norwood procedure; parathyroid hormone blood level; patent ductus arteriosus; priority journal; tachycardia; tachypnea; thymus; two dimensional echocardiography; Aorta, Thoracic; Aortic Diseases; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Male; Phenotype; Tomography, X-Ray Computed
Type
journal article