Marfan's syndrome is an autosomal dominant disorder in which life expectancy is markedly shortened. Mortality is due to cardiovascular abnormalities in 80% of cases, mostly to aortic root dilatation and its complications, aortic dissection and rupture. The diagnostic technique of choice is echocardiography, for suspected dissection transesophageal echocardiography. Aortic dilatation measured by echocardiography increases progressively with age. Conservative treatment includes echocardiographic screening, monitoring and the beta-blocker treatment started at an early age. Pregnancy and labour are serious risk factors for dissection even without aortic root dilatation, therefore special, counselling, monitoring and management are indicated. Life expectancy has been significantly increased with surgical treatment. Besides emergency and elective surgical indications prophylactic indications have been advocated. Aortic root dilatation and its complications are surgically treated by composite graft repair. Prophylactic surgery is indicated if the aortic root is dilated without aortic regurgitation or dissection. Operative mortality in Marfan's syndrome is less than 10%, the 5 year survival is over 90%, but late complications and the need of reoperations are frequent. Prophylactic operation has got no mortality and the necessity of reoperations is infrequent. Recent guidelines for the management of the Marfan patients recommend echocardiographic screening and early initiation of beta-blockade, annual echo monitoring and surgical referral at 50 mm of aortic root dimension in the presence of symptoms or additional factors (positive family history, severe mitral regurgitation, moderately-to-severe aortic regurgitation, planned pregnancy) and at 55 mm of aortic root dimension even without symptoms and the above additional factors.
|Number of pages||7|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Oct 1 1997|
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