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Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [75]
Connective tissue disorders such as Marfan syndrome, Ehlers–Danlos syndrome, and Loeys–Dietz syndrome increase the risk of aortic dissection. [13] Similarly, vasculitides such as Takayasu's arteritis , giant cell arteritis , polyarteritis nodosa , and Behçet's disease have been associated with a subsequent aortic dissection.
Additional factors that contribute to this condition include osteogenesis imperfecta, inflammatory aortic diseases, intrinsic valve disease, Loeys-Dietz syndrome, Marfan syndrome, and operated congenital heart disease. [3] On a gross level, there is a pear-shaped, symmetric enlargement due to proximal aortic dilation.
What is Marfan syndrome? This genetic disorder of the connective tissue impacts heart health. Causes long bones. People have long arms, legs.
Familial thoracic aortic aneurysm is an autosomal dominant [1] disorder of large arteries. There is an association between familial thoracic aortic aneurysm and Marfan syndrome as well as other hereditary connective tissue disorders.
Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age.
Aortic aneurysm; Figure A shows a normal aorta. Figure B shows a thoracic aortic aneurysm (which is located behind the heart). Figure C shows an abdominal aortic aneurysm located below the arteries that supply blood to the kidneys. Specialty: Cardiology, Vascular surgery: Symptoms: abdominal pain and back pain: Complications: Hemorrhaging ...
Other possible symptoms are mitral valve prolapse, a large aortic root diameter, and myopia. [2] The skeletal features found in MASS syndrome include curvature of the spine , chest wall deformities, and joint hypermobility. [2] MASS syndrome and Marfan syndrome are overlapping connective tissue disorders. Both can be caused by mutations in the ...