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Prior to modern cardiovascular surgical techniques and medications such as losartan, and metoprolol, the prognosis of those with Marfan syndrome was not good: a range of untreatable cardiovascular issues was common. Lifespan was reduced by at least a third, and many died in their teens and twenties due to cardiovascular problems.
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
The gene TGFBR2 has been implicated in several connective tissue disorders including Marfan syndrome, arterial tortuosity, and thoracic aortic aneurysm. A study of people with a sCSF leak demonstrated no mutations in this gene. [24] Minor features of Marfan syndrome have been found in 20% of CSF leak patients.
[9] [15] Surgical repair of the dura may provide symptomatic relief for some patients. [5] It has been reported that acetazolamide can be used to treat dural ectasia in individuals with Marfan syndrome, however, the only supporting evidence for this assertion is a small study of 14 patients which was not peer-reviewed or submitted for publication.
Malouf syndrome (also known as "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little ...
Current treatment options include CSF aspiration, fibrin-glue therapy, laminectomy with wrapping of the cyst, among other surgical treatment approaches. Interventional treatment of Tarlov cysts is the only means by which symptoms might permanently be resolved due to the fact that the cysts often refill after aspiration.
The Bentall procedure is a type of cardiac surgery involving composite graft replacement of the aortic valve, aortic root, and ascending aorta, with re-implantation of the coronary arteries into the graft. This operation is used to treat combined disease of the aortic valve and ascending aorta, including lesions associated with Marfan syndrome.
From 2004-2005, he served as president of the American Association for Thoracic Surgery. [4] He has published extensively in peer reviewed journals, is the author of many chapters in surgical textbooks, and is the editor or co-editor of 5 surgical textbooks. David has received numerous awards.