August 26, 2015
Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections
Key Result
This overview summarizes clinical aspects, etiology, and treatment of Heritable Thoracic Aortic Disease, focusing on Marfan syndrome as a paradigm for monogenetic aneurysm disorders.
Structured PICO
P
Population
Patients with Heritable Thoracic Aortic Disease (H-TAD), specifically Marfan syndrome and related monogenetic disorders.
Provides a comprehensive overview of the pathomechanisms, clinical features, and treatments for Marfan syndrome and related heritable thoracic aortic diseases.
Abstract
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.