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J Thorac Cardiovasc Surg 2003;126:1666-1667
© 2003 The American Association for Thoracic Surgery
Letters to the editor |
a Department of Pediatric Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
b Institute of Pediatrics, University La Sapienza, Rome, Italy
To the Editor:
We read with interest the important article by Cho and colleagues1 recently published on the Journal. The article reported the huge surgical series of patients affected by pulmonary atresia with ventricular septal defect (PA-VSD) treated at the Mayo Clinic during the last 20 years. The analysis of follow-up data and risk factors related to surgery was extremely accurate, and the operative results were excellent. However, we noticed that the authors did not take into consideration the possible association with a genetic syndrome among the hypothetic risk factors for surgical mortality or morbidity.
The high prevalence of genetic abnormalities among patients with PA-VSD, particularly the chromosome 22q11.2 microdeletion (Di George or velocardiofacial syndrome) is well described in the literature,2-7 including important contributions from the Mayo Clinic.6,7 Chromosome 22q11.2 microdeletion (del22q) has been reported in about 40% of patients with PA-VSD,2 particularly those with major aortopulmonary collateral arteries (MAPCAs)3 and complex loop morphology of the pulmonary arteries.4,5 The del22q abnormality has also been related to peculiar perioperative problems after surgery for PA-VSD, such as persistent airway hyperresponsiveness or increased prevalence of infectious complications.6,7
Among the surgical series of 37 consecutive patients with PA-VSD and MAPCAs surgically treated at our institution between January 1994 and March 2002 (mean age 39 ± 48 months, range 22 days–13 years, 62% of patients 2 years old or younger), genetically diagnosed del22q (fluorescence in situ hybridization test) was present in 15 cases (40%, 95% confidence interval [CI] 24%-56%). Its occurrence did not relate to any peculiar anatomic phenotype with respect to either pulmonary vascular supply (mean number of MAPCAs 3.7 ± 1.3 for 15 patients with del22q, vs 3 ± 1.4 for 22 patients without del22q, P not significant, mean pulmonary arteries/collateral arteries lung segment perfusion ratio 1.5 ± 1.5 vs 2 ± 1.9, P not significant) or prevalences of right aortic arch (53% [n = 8] among patients with del22q vs 36% [n = 8] among patients without del22q, P not significant) and infundibular atresia (53% [n = 8] among patients with del22q vs 50% [n = 11] among patients without del22q, P not significant).
Twenty-five patients underwent total unifocalization8 associated with successful either primary (n = 18) or secondary (n = 2) VSD closure in 80% of cases (20/25, 95% CI 64%-96%). The other 12 received an intermediate right ventricular outflow tract reconstruction with eventual second-stage unifocalization and repair in 11 cases, accounting for an overall repairability rate of the disease of 86% (31/36, 95% CI 74%-98%).
Mortality included 5 in-hospital deaths (15%, 95% CI 3%-27%), and 1 late death. Survival at 7-year follow-up was 81%. Two deaths occurred during the immediate postoperative course in 2 patients with del22q; pulmonary vascular disease was the cause in 1 case and no apparent cause was found at autopsy in the other. Postoperative hospital infections, including 2 fungal pneumonias, 1 fungal endocarditis, and 1 Pseudomonas pneumonia, occurred in 4 patients with del22q. Fungal infections were always related to a decreased CD4 lymphocyte count on peripheral blood samples and were responsible for 2 of 3 further in-hospital deaths. The last in-hospital death was that of a patient with del22q whose VSD was left open because of airway bleeding. Late death finally occurred in the case of a patient with del22q who had sudden airway bleeding early after successful second-stage closure of VSD. In summary, all 6 deaths were among the patients with del22q, either related or unrelated to their immunodeficiency. This association was statistically significant [6/15 vs 0/22, difference –0.4, 95% CI –0.65 to –0.15, P = .002].
In our experience microdeletion of chromosome 22q11.2 appears associated with poor overall outcome after surgical treatment of PA-VSD with MAPCAs. We believe that such a peculiarity, not necessarily related to special anatomic cardiac features associated with the syndrome itself, should justify the use of a protocol for preoperative assessment of immunologic status of patients with del22q undergoing surgery for PA-VSD with MAPCAs and the administration of a perioperative antifungal prophylaxis when necessitated by a depressed immunologic condition.
Within the population of patients with complex congenital heart lesions, the prevalence of genetic syndromes is relevant.9 Genetic syndromes may influence both clinical outcome and surgical results of treatment of congenital heart defects, both because of peculiar anatomic cardiac features and because of associated extracardiac abnormalities.9,10 This is the main reason that the possible association with a genetic syndrome should always be included among hypothetic risk factors within the analysis of postoperative outcome of congenital heart defects.
References
This article has been cited by other articles:
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  R. Formigari, G. Michielon, M. C. Digilio, G. Piacentini, A. Carotti, A. Giardini, R. M. Di Donato, and B. Marino Genetic syndromes and congenital heart defects: how is surgical management affected? Eur. J. Cardiothorac. Surg., April 1, 2009; 35(4): 606 - 614. [Abstract] [Full Text] [PDF]
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