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The aortic wall dilatation at the commissural level causes the cusps to effectively shorten and prevent them from converging during systole, which results in aortic valve incompetence. The arch is typically spared from the aneurysmal process, though it may involve the entire ascending aorta. The ectatic aorta may experience dissections.
The condition can be mimicked by a ruptured cyst of the pericardium, [11] ruptured aortic aneurysm [10] and acute coronary syndrome. [12] Misdiagnosis is estimated at 39% and is associated with delays correct diagnosis and improper treatment with anticoagulants producing excessive bleeding and extended hospital stays. [12]
An aortic aneurysm can occur as a result of trauma, infection, or, most commonly, from an intrinsic abnormality in the elastin and collagen components of the aortic wall. Aortic aneurysm development and progression have been directly associated with a deficiency of elastin as well as a loss of collagen type 1. [19]
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3] [4] [5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.
A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax. A thoracic aortic aneurysm is the "ballooning" of the upper aspect of the aorta, above the diaphragm. Untreated or unrecognized they can be fatal due to dissection or "popping" of the aneurysm leading to nearly instant death.
In medicine, not otherwise specified (NOS) is a subcategory in systems of disease/disorder classification such as ICD-9, ICD-10, or DSM-IV.It is generally used to note the presence of an illness where the symptoms presented were sufficient to make a general diagnosis, but where a specific diagnosis was not made.
Of these cases around 28% are confined to the thoracic portion of the aorta including the ascending aorta, aorta arch, and the descending aorta. [10] Of the thoracic aortic injuries the ligament arteriosum is the most common location followed by the portion of the aorta after the origin of the left subclavian artery. [10]
The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as regular clinical surveillance including regular follow-up echocardiograms. [7] The prognosis and lifespan of this condition are unclear. Early reports of mortality were high, [10] but more recent data suggests about 12% mortality. [5] [11]
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