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PEDIATRICS Vol. 108 No. 6 December 2001, pp. e104

ELECTRONIC ARTICLE

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

Doff B. McElhinney, MD*, Donna McDonald-McGinn, MS{ddagger}, Elaine H. Zackai, MD{ddagger} and Elizabeth Goldmuntz, MD*

* Division of Cardiology, Children’s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania
{ddagger} Division of Human Genetics, Children’s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania

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.

Key Words: velocardiofacial syndrome • DiGeorge syndrome • chromosome 22q11 deletion • vascular ring • aortic arch anomalies

Abbreviations: CHOP, Children’s Hospital of Philadelphia • MRI, magnetic resonance imaging

Received for publication Jun 7, 2001; Accepted Aug 9, 2001.