Marfan syndrome: The complex road to an optimal treatment strategy

Abstract

Marfan syndrome (MFS) is a heritable connective tissue disorder affecting the ocular, skeletal and cardiovascular system. The management of patients with MFS requires a multidisciplinary approach, and includes physical symptoms, as well as psychological factors. Optimal long-term outcome in patients with MFS is mainly focused on slowing down the aortic root dilatation rate, and to prevent aortic complications. It demands lifelong follow-up, with imaging of the aortic root at regular intervals, and in many patients lifelong pharmacological treatment, and surgery at young age. It is however intriguing that in this era of drug development, no pharmacological treatment strategy has been identified that can inhibit aortic disease in patients with MFS. Therefore, the main objective of this thesis is to obtain more insight into a novel pharmacological strategy. Furthermore, it is of great importance to establish parameters that could help to determine aortic disease severity in patients with MFS, in order to provide an optimal treatment strategy for individual patients. In that light we also aim to obtain more insight into biomarkers that potentially, identify patients at high risk for aortic complications