Clinical Studies
Frequency of 22q11 deletions in patients with conotruncal defects

https://doi.org/10.1016/S0735-1097(98)00259-9Get rights and content
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Abstract

Objectives. This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered.

Background. Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes in which conotruncal defects are a cardinal feature. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion.

Methods. Two hundred fifty-one patients with conotruncal defects were prospectively enrolled into the study and screened for the presence of a 22q11 deletion.

Results. Deletions were found in 50.0% with interrupted aortic arch (IAA), 34.5% of patients with truncus arteriosus (TA), and 15.9% with tetralogy of Fallot (TOF). Two of 6 patients with a posterior malalignment type ventricular septal defect (PMVSD) and only 1 of 20 patients with double outlet right ventricle were found to have a 22q11 deletion. None of the 45 patients with transposition of the great arteries had a deletion. The frequency of 22q11 deletions was higher in patients with anomalies of the pulmonary arteries, aortic arch or its major branches as compared to patients with a normal left aortic arch regardless of intracardiac anatomy.

Conclusions. A substantial proportion of patients with IAA, TA, TOF and PMVSD have a deletion of chromosome 22q11. Deletions are more common in patients with aortic arch or vessel anomalies. These results begin to define guidelines for deletion screening of patients with conotruncal defects.

Abbreviations

CTAFS
conotruncal anomaly face syndrome
DGCR
DiGeorge chromosomal region
DGS
DiGeorge syndrome
DOLV
double outlet left ventricle
DORV
double outlet right ventricle
FISH
fluorescence in situhybridization
IAA
interrupted aortic arch
PMVSD
posterior malalignment type ventricular septal defect
TGA
transposition of the great arteries
TA
truncus arteriosus
TOF
tetralogy of Fallot
VCFS
velocardiofacial syndrome

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This study was supported by a SCOR grant from the Heart, Lung and Blood Institute (HL51533) and HL03191 (EG).