Abstract
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.
Highlights
E aortic aneurysmal disease is de ned as focal dilation of the aorta, based on its original diameter. e dilatation must be at least one and one-half times the normal diameter. us, generally, a segment with a diameter of greater than 3.5 cm is considered as an aortic aneurysm
Oracic aneurysms are those located above the diaphragm and may involve one or more aortic segments and are classi ed . hen they are located under diaphragm, aneurysms are classi ed as abdominal. e second ones are much more prevalent than thoracic aortic aneurysms
Ere are multiple genetic syndromes associated with aortic aneurysmal disease (Table 1). e 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 and dissections (TAAD), bicuspid aortic valve (BAV), and autosomal dominant polycystic kidney disease (ADPKD)
Summary
E aortic aneurysmal disease is de ned as focal dilation of the aorta, based on its original diameter. e dilatation must be at least one and one-half times the normal diameter. us, generally, a segment with a diameter of greater than 3.5 cm is considered as an aortic aneurysm. Us, generally, a segment with a diameter of greater than 3.5 cm is considered as an aortic aneurysm. Cases of aortic aneurysms in children have been reported; they are very rare [2]. In this group, the proportion of thoracic or abdominal aortic aneurysms and dissections resulting from a genetic predisposition is unknown. Ere are multiple genetic syndromes associated with aortic aneurysmal disease (Table 1). E 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 and dissections (TAAD), bicuspid aortic valve (BAV), and autosomal dominant polycystic kidney disease (ADPKD). Less common are aortic aneurysms associated with Turner syndrome, neuro bromatosis, tuberous sclerosis, Noonan syndrome, osteogenesis imperfecta and homocystinuria
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