Aortic disease in the young: pictorial review of genetic aneurysm syndromes, connective tissue disorders and familial aortic aneurysms and dissections

Abstract

Purpose There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), autosomal dominant polycystic kidney disease (ADPKD), Turner’s disease and neurofibromatosis. Computed tomography (CT) and magnetic resonance imaging (MRI) are the most commonly used imaging examinations to evaluate aortic diseases because of their high spatial and temporal resolutions, large fields of view and multiplanar imaging reconstruction capabilities. CT and MRI play an important role not only in the diagnosis of aortic disease but also in the preoperative assessment and follow-up after treatment. In this review, the CT and MRI appearances of various congenital aortic conditions are described and illustrated. A good working knowledge of the CT and MRI appearances of such lesions enables appropriate preoperative or interventional assessment and post procedural follow-up for detection of complications. Methods and materials N/A Results N/A Conclusion N/A