ArticleAnnals of pediatric cardiology
Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study.
Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.2 deletion. We planned to study the prevalence of immunological aberrations and 22q11.2 deletion among patients with conotruncal anomaly to understand the impact of their interplay. Patients and Methods: Preoperative children (age <12 years) with conotruncal anomalies were evaluated for clinical dysmorphism, lymphocyte subsets by flowcytometry, immunoglobulin levels by nephelometry, and 22q11.2 deletion by multiplex ligand-dependent probe amplification (January 2021-June 2022). Patients with asplenia and polysplenia were excluded from immunological studies. Results: Major cardiac defects ([ Conclusion: Immunological aberrations, especially T-cell abnormalities, were present in almost half of the patients, irrespective of 22q11.2 deletion. Only 8.4% of patients had 22q11.2 deletion. The high incidence of d-TGA among 22q11.2 deletion patients needs further exploration.
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