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Table 1 Prevalence of 22q11.2 deletions in patients with CHD

From: A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

Cardiac phenotypes Total subjects 22q11.2 deletion subjects Subjects frequency (%)
Conotruncal cardiac defects    
Tetralogy of Fallot 231 20 8.7
Pulmonary atresia/Ventricular septal defect 135 17 12.6
Double outlet right ventricle 115   
Transposition of great arteries 91   
Tricuspid atresia 20   
Persistent truncus arteriosus 12 1 8.3
Interrupted aortic arch 11   
Non-conotruncal cardiac defects    
Single atrium/Single ventricle 58   
Atrioventricular septal defect 59   
Total anomalous pulmonary venous connection 30 1 3.3
Partial anomaly of pulmonary venous connection 14   
Subvalvular aortic stenosis 16   
Coarctation of the aorta 15   
Others 11   
Total 818 39 4.8
  1. Atrioventricular septal defect involved complete, partial and transitional atrioventricular septal defect. Others involved Aortopulmonary window and Cor triatriatum.