Original article: cardiovascular
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect

https://doi.org/10.1016/S0003-4975(03)00516-2Get rights and content

Abstract

Background

The 22q11.2 deletion (del22q) is present in many patients with conotruncal abnormalities including pulmonary atresia with ventricular septal defect (PA/VSD). We sought to determine the impact of the del22q on outcome in subjects with PA/VSD.

Methods

We reviewed the experience for all patients with PA/VSD who were born between January 1993 and April 2002 and presented to our institution. Patients with conotruncal defects were routinely evaluated for genetic disorders including del22q. Fluorescence in situ hybridization was used to test for del22q.

Results

There were 67 subjects with PA/VSD who presented during that time period; testing for del22q was performed in 58 of 67 (87%) and these 58 patients comprised the study population. The 22q11.2 deletion was present in 20 of 58 (34%) patients tested. Major aortopulmonary collaterals were defined by angiography and were present in 27 (47%). These collaterals were significantly more common among subjects with del22q (13 of 20, 65%; p = 0.04). The median cross sectional area of the pulmonary arteries, the Nakata index, was significantly less for patients with del22q (41 versus 142 mm2/m2; p = 0.006). There were 3 subjects, all of whom had del22q, who did not undergo surgery owing to markedly hypoplastic pulmonary arteries. Of the remaining 55 patients, 53 had arteriopulmonary shunt with or without unifocalization as the initial procedure and 35 patients have undergone complete repair. There were 8 operative deaths and 1 nonoperative death. The 5-year survival was 36% for patients with del22q versus 90% for patients without del22q. The 22q11.2 deletion was a significant risk factor for death, even after adjusting for the presence of major aortopulmonary collaterals (p = 0.004). There was no significant difference between the two groups with respect to the incidence of serious viral, bacterial, or fungal infections in the perioperative period.

Conclusions

Patients with del22q and PA/VSD are at increased risk for death owing to a variety of factors including less favorable pulmonary artery anatomy. A better understanding of del22q, pulmonary artery anatomy, and outcome is required.

Section snippets

Patients

From January 1993 through May 2002, 67 patients with PA/VSD presented to our institution. Deletion analysis for del22q was performed in 58 of 67 subjects (87%). These 58 patients comprise the study population for this analysis. The age at presentation ranged from 1 day to 4.5 years (median, 12 days). Of the 58 patients, 31 (53%) were male and 27 (47%) were female. Two patients had undergone a Blalock-Taussig shunt placement elsewhere prior to presentation at our institution.

Analysis of pulmonary arteries

All study subjects

Results

Of the 58 patients with PA/VSD in this series, 20 (34%) were found to have del22q. Major aortopulmonary collaterals were significantly more common in subjects with del22q (13 of 20; 65%) than in subjects without del22q (14 of 38; 37%; p = 0.04; Table 1). A right aortic arch was also significantly more common in patients with del22q (13 of 20; 65%) compared with patients without del22q (12 of 38; 32%, p = 0.01). Additional genetic syndromes and associations identified among the 38 subjects

Comment

This study analyzes the impact of del22q on outcome for patients with PA/VSD from a single institution. There was an association between del22q and the presence of MAPCAs and the degree of pulmonary artery hypoplasia. Patients with del22q had a significantly higher mortality rate than patients without del22q, due at least in part to more severe pulmonary artery hypoplasia. Invasive infections did not appear to be a risk factor for increased operative mortality among patients with del22q.

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