Objectives About 20% of all patients with congenital heart disease (CHD) show other malformations and abnormalities. They have an increased likelihood of a genetic disorder that is hereditary or occurred spontaneously. Especially the influence of a genetic syndrome for patients with CHD is of particular importance. This study focusses patients with CHD in comparison with patients having genetic syndrome associated CHD to identify whether they are at higher risk for secondary diagnoses (SD), more surgeries and interventional treatments or not.

Methods 34004 patients with CHD up to thirty years were identified using the NRCHD medical database. 28478 (female 48.1%; 16.1±7.0 years) CHD patients without any hereditary fetal or neonatal secondary diagnosis (HFN-SD) representing the control group (CG) and 5526 (female 51.8%; 13.7±6.6 years) CHD patients with HFN-SD were included in the statistical analyses. HFN-SD class.: International Paediatric and Congenital Cardiac Code (IPCCC). CHD severity class.: Warnes et al. (simple (S), moderate (M), complex (C)).

Results Out of the 5526 CHD patients with HFN-SD, 2132 having the most frequent genetic syndromes associated with CHD. Trisomy21 (1645 (4.8%); S:300; M:974; C:371), DiGeorge syndrome (306 (0.9%); S:11; M:132; C:163), Noonan syndrome (93 (0.3%); S:13; M:71; C:9) and Williams-Beuren syndrome (88 (0.3%); S:2; M:82; C:4). Trisomy21 patients have a significantly reduced risk of 26.8% for having a number of interventional treatments as high as the CG (OR:0.73 95%CI:0.60-0.89; p=.002). DiGeorge syndrome patients are at higher risk for acquired SD of 17.6% (OR:1.17 95%CI:1.05-1.31; p=.004) as well as for interventional treatments of 6.9% (OR:1.06 95%CI:1.01-1.14; p=.033). A 28.6% higher risk for an increased number of extracardiac SD was shown in Noonan syndrome patients (OR:1.29 95%CI:1.06-1.56; p=.010). Patients with Williams-Beuren syndrome are at 52.1% decreased risk for having a number of surgeries as high as the CG (OR:0.48 96%CI:0.28-0.83; p=.008) but a higher risk for a higher number of interventional treatments of 20.5% (OR:1.21 95%CI:1.06-1.37; p=.004).

Conclusion Patients with Noonan syndrome and patients with DiGeorge syndrome confirm the assumption that they have to deal with more secondary diseases even in younger ages, but not patients with Trisomy21 or with Williams-Beuren syndrome. It would be necessary to monitor CHD patients with syndromes whether these findings change when they reaching older ages.