CLINICAL STUDY: PEDIATRIC CARDIOLOGY
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching
Doff B. McElhinney, MD*  ,
Bernard J. Clark, III, MD* ,
Paul M. Weinberg, MD* ,
Maura L. Kenton, MS ,
Donna McDonald-McGinn, MS,
Deborah A. Driscoll, MD  ,
Elaine H. Zackai, MD and
Elizabeth Goldmuntz, MD*
* Division of Pediatric Cardiology, Philadelphia, Pennsylvania, USA
Human Genetics and Molecular Biology, Philadelphia, Pennsylvania, USA
Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Department of Pediatrics, Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
Manuscript received November 7, 2000;
revised manuscript received February 6, 2001,
accepted March 1, 2001.
Reprint requests and correspondence: Dr. Elizabeth Goldmuntz, Division of Cardiology, Children’s Hospital of Philadelphia, Abramson Research Center 702A, 3516 Civic Center Boulevard, Philadelphia, Pennsylvania 19104
goldmuntz{at}email.chop.edu
OBJECTIVES
The purpose of this study was to determine the frequency of chromosome 22q11 deletions in patients with isolated anomalies of the aortic arch and its branches.
BACKGROUND
Chromosome 22q11 deletions are often present in patients with certain forms of congenital cardiovascular disease, including tetralogy of Fallot, truncus arteriosus and interruption of the aortic arch. Among patients with these anomalies, chromosome 22q11 deletion is more common in those with abnormal aortic arch laterality or branching.
METHODS
We studied 66 patients with isolated anomalies of the aortic arch and no associated intracardiac defects for deletions within chromosome 22q11, using fluorescence in situ hybridization with the cosmid probe N25 (D22S75). Arch anomalies included: double aortic arch (n = 22); right aortic arch with aberrant left subclavian artery (n = 28); right aortic arch with mirror-image branching and a vascular ring formed by a left-sided ductus from the descending aorta (n = 5); right aortic arch with mirror-image branching and no vascular ring (n = 4); and left aortic arch with aberrant right subclavian artery (n = 7). In addition, four patients had a cervical aortic arch, four had aortic coarctation and six had hypoplasia/atresia of the proximal pulmonary arteries.
RESULTS
Chromosome 22q11 deletions were found in 16 patients (24%) across the full spectrum of anomalies studied. Among the morphologic variables analyzed, only hypoplasia/atresia of the proximal pulmonary arteries correlated with the deletion (p = 0.03). Among patients with a double arch, the frequency of chromosome 22q11 deletion was higher in those with an atretic minor arch than it was in those with a patent minor arch (p = 0.02).
CONCLUSIONS
Chromosome 22q11 deletion is associated with isolated anomalies of laterality or branching of the aortic arch in 24% of cases in our series. These findings should alert the clinician to consider deletion screening in patients with isolated anomalies of the aortic arch.
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Abbreviations and Acronyms
| | PA | = pulmonary artery | | SCA | = subclavian artery |
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