Familial Abdominal Aortic Aneurysm: Clinical Features and Genetics

Abstract Cardiovascular disease is the most important cause of death in the world and encompasses occlusive as well as aneurysmal disease. The most common aneurysm in humans is the abdominal aortic aneurysm (AAA). The question is why the aorta dilates in aneurysmal disease and occludes in arterial occlusive disease, despite overlapping atherosclerotic risk profiles. Apparently there is a predisposition leading to dilatation in AAA and genetic factors may play an important role herein. The focus of this thesis is to establish the clinical and genetic risk profiles for AAA to provide appropriate treatment for AAA patients and to determine the need for screening of families of AAA patients. In Part I, the clinical and genetic features of patients with aneurysmal disease are compared to patients with occlusive arterial disease. Part II describes the clinical and genetic features of patients with familial AAA. Part III is dedicated to determine the clinical outcome after operative treatment of patients with familial AAA. And Part IV addresses the clinical management of patients with familial AAA. The work presented in this thesis supports the evidence of a genetic origin in AAA formation and warrants up to date knowledge for all clinicians involved in AAA care