Abstract
Congenital heart disease (CHD) and cardiovascular abnormalities are a frequent feature in 22q11.2 deletion syndrome (22q11.2DS) and, despite the improvement in their medical and surgical treatment, still represent the main cause of mortality in affected children. Past studies defined the anatomical patterns of CHDs in 22q11.2DS, which is essential for understanding the underlying genetic and developmental mechanisms. The most frequent CHDs in 22q11.2DS are conotruncal defects and anomalies of the aorta. In the majority of patients, surgical outcome is not influenced by the presence of this genetic condition. However, it is important to know the additional cardiovascular anomalies and the extracardiac features of these patients to provide correctly the complex perioperative care they require.
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