Aortic arch dimensions in neonates with Down syndrome

Background: Congenital heart disease (CHD) is a major cause of morbidity and mortality in patients with Down syndrome. Objectives: The objective of this study is to identify the prevalence of abnormal aortic arch dimensions in patients with Down syndrome. Methods: This was a retrospective chart review of patients with Down syndrome who were born at Jackson Health System over a 14-year period. The initial neonatal echocardiograms were reviewed for presence of CHD along with the dimensions of aortic annulus, distal transverse arch, and aortic isthmus, and then compared with age and sex matched cohorts. Results: A total of 138 patients were included in this study. The overall prevalence of congenital heart disease in our cohort was 70.7 % (n = 97). Among those identified, the most common CHDs were ventricular septal defect (VSD) (23.2 %), atrial septal defect (ASD) (24.6 %), and atrioventricular septal defect (AVSD) (34.8 %) Fourteen patients (10.1 %) had aortic isthmus hypoplasia and 9 (6.5 %) had hypoplasia of the distal transverse arch. Conclusion: Mild aortic arch hypoplasia without coarctation is found in 13.8 % of patients with Down syndrome. Specific nomograms may be necessary for measuring aortic arch dimensions in patients with Trisomy 21.