Genetics and inheritance issues in congenital heart disease

Congenital heart disease (CHD) is among the most common birth defects, occurring in approximately 8 per 1,000 live births. It leads to significant morbidity and mortality in children as well as adults. Due to improvements in cardiac surgery and medical care, nowadays approximately 90% of CHD patients reach adulthood. Although the causes of CHD are largely unknown, there has been significant progress in the identification of genes and signaling pathways that are involved in cardiovascular development and CHD. The increasing knowledge enables physicians caring for CHD patients to inform patients about the origin of their CHD, the inheritance pattern and possible risk for extracardiac disease. This thesis focuses on the genetics of non-syndromic and syndromic CHD, the implications it has for (adult) patients as well as the adult CHD patients’ perspective on inheritance issues.