Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients.
OBJECTIVE
The purpose of this study was to clarify the clinical characteristics of interruption of the aortic arch associated with chromosome 22q11deletion.


BACKGROUND
About half of patients with interruption of the aortic arch between the left common carotid and the left subclavian artery have deletion of chromosome 22q11.


METHODS
In total, 20 patients with interruption of the aortic arch were studied with fluorescence in situ hybridization using peripheral lymphocytes and a DiGeorge syndrome chromosomal probe (Oncor N25). Cardiovascular anomalies in these patients were diagnosed by cross-sectional echocardiography and angiocardiography, and were confirmed at intracardiac repair.


RESULTS
Of 13 patients with interruption between the left common carotid artery and the left subclavian artery, seven had the deletion. All 7 also showed thymic hypoplasia and hypocalcemia, together with a nasal voice and peculiar facies. Six of the seven patients had complete deficiency of the muscular outlet septum, with the defect extending to the perimembranous area. Such complete absence of the muscular outlet septum was not present in any of the patients without the deletion.


CONCLUSIONS
Interruption of the aortic arch between the left common carotid and the left subclavian artery, absence of the thymus, and complete absence of the muscular outlet septum, were characteristic in Japanese patients with interruption of the aortic arch associated with deletion of chromosome 22q11.
Momma
K
K
Department of Pediatric Cardiology, Heart Institute of Japan, Tokyo Women's Medical University.
Ando
M
M
Matsuoka
R
R
Joo
K
K
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D001013:Aorta, Thoracic / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male