Phenotype – cardiac and associated features NORPAP database
| Syndromes | Main Diagnosis for Cardiac Defects |
|---|---|
| Down Syndrome
N = 106 M = 58 F = 48 Noonan Syndrome N = 7 M = 9 F = 8 Turner Syndrome N = 13 All females DiGeorge Syndrome 22q11 del N = 18 M = 9 F = 9 Williams Syndrome N 15 M = 11 F = 4 Holt-Oram Syndrome N = 6 Alagilles Syndrome N = 5 Goldenhar Syndrome N = 1 Russell Silver Syndrome N = 1 F = 1 Klippel Feil Syndrome N = 2 F = 1 M = 1 Marfan Syndrome N = 37 F = 11 M = 25 Loeys Dietz Syndrome N = 4 F = 2 M = 2 Others N = 17 F = 9 M = 8 | ASD, Atrioventricular canal defects, Tetralogy of fallot, Ventricular septal defect, Single ventricle, Patent ductus arteriosus, Coarctation and Bicuspid aortic valve ASD, Atrioventricular canal defects, Pulmonary stenosis, Branch PA stenosis, subaortic stenosis, HOCM Coarctation of aorta and bicuspid valve, Partial anomalous venous drainage, Patent ductus arteriosus and Ventricular septal defect Tetralogy of Fallot, Pulmonary atresia with intact ventricular septum, Ventricular septal defect, Truncus arteriosus, Aneurysm of sinus of valsalva, Bicuspid aortic valve and coarctation Supravalvular stenosis, Bicuspid aortic valve, Mitral Valve disease Atrial septum defect secundum, VSD, BAV Tetralogy of Fallot, Pulmonary stenosis, Bicuspid aortic valve Atrioventricular- canal, Ventricular septal defect Ventricular septal defect Pulmonary stenosis, VSD Mitral valve prolapse Dilated Aorta Tetralogy of fallot, VSD, Sub aortic stenosis, Pulmonary atresia |