Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age

Abstract

ABSTRACT. Objective. Cardiovascular anomalies are present in 75% to 80% of patients with a chromosome 22q11 deletion. In the majority of cases, the cardiovascular defect becomes evident in the neonatal period and is often the initial manifestation of the chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascular ring, which may not be diagnosed until the patient is older. The objective of this study was to determine the frequency and types of cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.Methods. We studied 29 patients diagnosed with a chromosome 22q11 deletion at a median age of 6.2 years (9 months to 45 years) who were subsequently referred for cardiovascular evaluation. Comprehensive cardiologic evaluation was performed, with transthoracic echocardiography (N ‫؍‬ 28) and/or magnetic resonance imaging (N ‫؍‬ 6), including imaging of the aortic arch. The frequency of cardiovascular anomalies diagnosed in these patients and the need for intervention were assessed.Results. Cardiovascular anomalies were detected in 11 (38%) patients: 3 with a vascular ring formed by a right aortic arch with an aberrant left subclavian artery and left-sided ligamentum arteriosum, 3 with a right aortic arch with mirror-image branching of the brachiocephalic arteries (no vascular ring; 1 with a patent ductus arteriosus), 4 with a left aortic arch with an aberrant right subclavian artery (no vascular ring; 1 with a patent ductus), and 1 with a left superior vena cava draining to the coronary sinus. The median age at diagnosis in these 11 patients was 3 years (9 months to 28 years). The remaining 18 patients had normal cardiovascular anatomy. All 3 patients with vascular rings subsequently underwent surgical repair, and 1 patient with a ductus arteriosus underwent transcatheter coil occlusion.Conclusions. The frequency of cardiovascular anomalies necessitating intervention in patients referred for cardiovascular evaluation after diagnosis of a chromosome 22q11 deletion beyond 6 months of age is 14% in our experience. Routine screening for cardiovascular anomalies, including echocardiography and other imaging studies to identify the laterality and branching pattern of the aortic arch, is indicated in patients diagnosed with 22q11 deletion beyond 6 months of age and is particularly critical for patients with respiratory or feeding disorders. Pediatrics 2001;108(6). URL: http://www. pediatrics.org/cgi/content/full/108/6/e104; velocardiofacial syndrome, DiGeorge syndrome, chromosome 22q11 deletion, vascular ring, aortic arch anomalies.

Anatomy and radiology of the variations of aortic arch branches in 1,266 patients

“…[1,2,7,9,10,14,34]. Radiologists usually apply various types of angiography, MSCT, catheterisation, and trans-catheter coil occlusion, either for examination and identification of the aberrant arteries or for the treatment of their pathology [24,27].…”

Pulmonary puzzle: A rare case of dysphagia

“…In some patients, 22q11 deletions have been found. [5] This deletion is responsible for the DiGeorge, velocardiofacial and conotruncal face anomaly syndromes, which are often referred to by the unified terms CATCH-22 syndrome or chromosome 22q11 deletion syndrome.…”

Pattern of Congenital Heart Defects in 22q11 Microdeletion Syndrome in India – A Tertiary Care Cardiac Hospital Based Study

“…3,4,8,9 In other studies, children with selected cardiac diagnosis were screened for 22q11.2 microdeletion to identify the relative frequency. 5,[10][11][12][13] In the present study cardiac diagnosis of all the children with positive for 22q11.2 microdeletion were studied in detail using available data on retrospective basis.…”