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