Clinical and Genetic Studies in Inherited Cardiovascular Malformations

摘要: textabstractCardiovascular malformations comprise a broad spectrum of anomalies the heart and blood vessels, including congenital heart (CHM) and aortic aneurysms, two main topics this thesis. These conditions lead to significant morbidity mortality both in infancy adulthood. A substantial proportion cardiovascular have genetic background, including large chromosomal abnormalities, submicroscopic chromosome deletions or duplications, single gene mutations. However, majority of cardiovascular is thought be due multifactorial inheritance, involving multitude mutations susceptibility genes superposed on unfavorable environmental life style factors. In past decade, great progress has been made unravelling genes involved malformations. This it possible understand the genetic pathways underlying pathophysiologic mechanisms, develop therapeutic preventive measures. It also led need for multidisciplinary cardiogenetic clinics order improve diagnosis treatment cardiovascular diseases. Such multidisciplinary cardiogenetic clinic established the (Paediatric) Cardiology Department Erasmus Medical Center Rotterdam. In this setting most patients described thesis were studied. With enthusiastic participation these patients, their families physicians, scientific studies were initiated cause