Aortic diseases - a medical challenge

Diseases of the aorta can lead to life-threatening complications such as a dissection or rupture of the aorta. Abdominal and thoracic aortic aneurysms occur both sporadically and as part of genetic diseases such as Marfan syndrome. Despite different causes, they cause similar symptoms. In particular, the lack of specific drug therapy options highlights the urgent need for basic and translational research in this field.

An aortic aneurysm is a progressive, potentially life-threatening disease. In abdominal aortic aneurysm (AAA), cellular damage and inflammation lead to degradation of the extracellular matrix (ECM) and dilatation of the vessel wall, which can lead to dissection and rupture of the aorta. Atherosclerotic changes are frequently found in the walls of AAA patients. Specific drug therapies are still lacking, although inflammation, leukocyte infiltration, oxidative stress and cellular matrix degradation are recognized as central factors. Risk factors are age, obesity, smoking and diabetes. Globally, the age-standardized mortality rate from aortic aneurysms in 2017 was 2.19 per 100,000 people, with men accounting for the majority of cases. Population-based screening programs and surgical interventions have reduced morbidity and mortality, but remain insufficient.

Marfan syndrome

Marfan syndrome, the vascular prototype of a hereditary disease, with a prevalence of around 1:5,000, caused by mutations in the fibrillin-1 gene (FBN1), also increases susceptibility to aortic aneurysms and dissections. Structural defects in the ECM and impaired signal transduction of certain growth factors lead to weakening of the aortic wall. Other congenital connective tissue diseases that can cause similar vascular complications include Ehlers-Danlos syndrome and Loeys-Dietz syndrome. Vascular complications of these diseases include aortic aneurysms, aortic dissections, arterial ruptures and dilation or narrowing of other large blood vessels.

Research and therapy

The aim of this research consortium is to develop new therapeutic approaches to prevent the progression and complications of aortic diseases in the future and to treat them more effectively. Clinical and basic science research groups are working together with the aim of investigating pathophysiological processes and risk factors in order to develop innovative, for example gene-based or anti-inflammatory treatment strategies and improve patient care and prognosis.