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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]
With Marfan syndrome patients, they must have their aorta monitored with regular imaging to detect a dilation or an aneurysm, signs that a dissection could be impending. "It's common to have ...
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.
There is a good amount of evidence that shows the disease is autosomal dominant, with some penetrance. There is also the possibility of age related dependence. It is known that Marfan’s Syndrome and Ehler-Danlos Syndrome lead to an increased risk for development of FAD. Marfan’s Syndrome is not required to have an aortic dissection. [9]
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.
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 ...
The principal causes of death due to thoracic aneurysmal disease are dissection and rupture. Once rupture occurs, the mortality rate is 50–80%. Most deaths in patients with Marfan syndrome are the result of aortic disease. [citation needed]