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), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research. 1. Introduction The aortic aneurysmal disease is defined as focal dilation of the aorta, based on its original diameter. The dilatation must be at least one and one-half times the normal diameter. Thus, generally, a segment with a diameter of greater than 3.5？cm is considered as an aortic aneurysm. Thoracic aneurysms are those located above the diaphragm and may involve one or more aortic segments (aortic root, ascending aorta, arch, or descending aorta) and are classified accordingly. When they are located under diaphragm, aneurysms are classified as abdominal. The second ones are much more prevalent than thoracic aortic aneurysms. About 80% of aortic aneurysms occur between the renal arteries and the aortic bifurcation. Aortic aneurysm rupture represents the 13th cause of death in the USA, accounting for nearly 15,000 of deaths annually [1]. Although, often a late onset disease, there are a significant proportion of patients with presentation at age less than 60. Cases of aortic aneurysms in children have also been reported; however, they are very rare [2]. In this group, the proportion of thoracic or abdominal aortic aneurysms and dissections resulting from a geneticpredisposition is unknown. In the absence of an identifiable genetic syndrome, familial aggregation of these aneurysms is well established. The first-degreerelatives of an individual with an aortic aneurysm have a ten to twelvefold increased risk of developing aortic aneurysms [3–5]. There are multiple genetic syndromes associated with aortic aneurysmal disease (Table 1). The Key syndromes to consider in any patient who presents at a young age an aortic aneurysm include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms
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