Marfan syndrome and related heritable thoracic aortic aneurysms and dissections

Abstract

In this chapter, we wish to provide an overview and address a number of recent developments regarding aetiology, clinical aspects and treatment of heritable thoracic aortic disease. We want to focus on monogenetic disorders related to aortic aneurysms which are admittedly rare but provide a unique basis for the study of underlying pathogenetic pathways in the complex disease process of aneurysm formation. Understanding these pathomechanisms may lead to the identification of new treatment targets and improved management.