In this overview we aim to address a number of recent insights and developments regarding clinical aspects,
etiology, and treatment of Heritable Thoracic Aortic Disease (H-TAD). We will focus on monogenetic disorders
related to aortic aneurysms. H-TADs are rare but they provide a unique basis for the study of underlying pathogenetic
pathways in the complex disease process of aneurysm formation. The understanding of pathomechanisms
may help us to identify medical treatment targets to improve prognosis.
Among the monogenetic aneurysm disorders, Marfan syndrome is considered as a paradigm entity and many insights
are derived from the study of clinical, genetic and animal models for Marfan syndrome. We will therefore
first provide a detailed overview of the various aspects of Marfan syndrome after which we will give an overview of related H-TAD entities.