Aortic valve disease and associated thoracic aortic aneurysm

Ascending aortic aneurysm is a silent disease and the first clinical manifestation is often aortic dissection or aortic rupture, both lethal conditions unless surgery is performed acutely. Aneurysm is characterized by progressive enlargement of the aorta due to connective tissue destruction.

The disease is only identified incidentally and therapeutic agents that may halt or reverse the process of aortic wall deterioration are absent.Main questions to be addressed are: What factors contribute to ascending aortic aneurysm susceptibility?

Why are individuals born with a bicuspid instead of a normal tricuspid aortic valve more susceptible to develop aneurysm in their ascending aorta later in life? How can an increased endothelial to mesenchymal transition lead to aneurysm development and progression? Can we predict which patients that will develop aortic aneurysm?

A unique clinical cohort is the basis for our research.

Our biobank is the largest and most comprehensive in the world today and includes patients undergoing aortic valve replacement and/or repair of the ascending aorta.

The biobank enables the unique opportunity to study potential differences between non-dilated and aneurysmal ascending aortas from patient with different valve phenotype.

The project includes large scale genomic analyses together with in vitro analyses of isolated vascular cells in cell systems mimicking physiological conditions. Findings are tested in relation to clinical phenotypes.