142 Genomics in Adult Patients with Congenital Heart Disease (CHD): The Norpap Database

BackgroundAdults with CHD now outnumber the paediatric population due to greater than 90% survival to the age of 18. About 400 syndromic types account for 25% of the CHD population; some of these are associated with high inheritance rates about which the adult CHD need counselling. The NORPAP database is derived from a dedicated adult CHD service started in 1993.MethodsWe reviewed the NORPAP database (n = 2322) of which 264 patients (144M, 120F) with syndromic appearance had been genotyped. Mean age 35 years (16–89). 224 genotype positive and 40 genotype negative were identified. Spectrums of syndromes are described below in the Figure 1.Abstract 142 Figure 1Spectrum of clinical syndromesThe highest incidence of CHD with genotype was AV canal defects, but also VSD, conotruncal abnormalities and aortopathies (Marfan, L-D, E. D. IV).Abstract 142 Table 1Distribution of congenital defects with positive genotype in NORPAP databaseTotal Number of Congenital Defects with Positive GenotypeType of Defect Total NumberASD11AV-Canal58VSD41Supravalvular stenosis13Subaortic stenosis3Coarctation of Aorta9BAV13Mitral valve disease4Tetrology of Fallot27Pulmonary atresia with Intact septum3Truncus Arteriosus3Patent ductus arteriosus3Pulmonary stenosis18Marfan and Loeys Dietz57Phenotypes and cardiac defects were studied as most patients had more than one associated lesions. Table 2 describes the association.Abstract 142 Table 2Phenotype – cardiac and associated features NORPAP databaseSyndromesMain Diagnosis for Cardiac DefectsDown Syndrome N = 106M = 58 F = 48 Noonan Syndrome N = 7M = 9 F = 8 Turner Syndrome N = 13All females DiGeorge Syndrome 22q11 del N = 18M = 9 F = 9 Williams Syndrome N 15M = 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 = 8ASD, Atrioventricular canal defects, Tetralogy of fallot, Ventricular septal defect, Single ventricle, Patent ductus arteriosus, Coarctation and Bicuspid aortic valveASD, Atrioventricular canal defects, Pulmonary stenosis, Branch PA stenosis, subaortic stenosis, HOCMCoarctation of aorta and bicuspid valve, Partial anomalous venous drainage, Patent ductus arteriosus and Ventricular septal defectTetralogy of Fallot, Pulmonary atresia with intact ventricular septum, Ventricular septal defect, Truncus arteriosus, Aneurysm of sinu