The @entity1614 ( @entity1614 ) is one of the most common (1:3000-1:4000) heritable connective tissue disorders. It's still a rarely diagnosed syndrome, especially in childhood. Near all cases @entity1614 results from mutations in the @entity6099 ( @entity6099 ) gene on chromosome 15q21.1, which encodes for the glycoprotein fibrillin. The @entity6099 gene is a large protein that can cause more than 500 mutations and molecular examinations, finally confirming the diagnosis, are conducted extremely rare. We present prospective data concerning 66 @entity1 with clinically-diagnosed @entity1614 who have been controlled in Department of Pediatric Cardiology and Congenital @entity299 Medical University in Gdansk in 2000 - 2010. 29 @entity1 (44%) had mitral valve regurgitations, 19 (29%) @entity384 of the aorta, 13 (20%) had both these irregularities. In 7 cases (11%) diagnosis of @entity3454 preceded appearance of an aneurysmal dilalation of the aortic bulb. During the observation 11 @entity1 (17%) underwent cardiosurgical procedures for the sake of stopping crucial progressive mitral @entity340 and/or @entity384 of the aortic bulb, which threatened with a @entity1755 . In 39 cases (59%) prophylactic treatment with beta - blockers was administered. The @entity1 with @entity1614 need a multidisciplinary system of care and the psychological supporting. The cardiosurgical treatment, which nowadays is bringing better results, due to the technological advancements is a new hope for this @entity1 population.

The XXXX - features, natural history and treatment options - our experiences.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity1755 :: ('MESH:D001019', 'Disease') :: ['rupture of aortic aneurysm'] @entity384 :: ('MESH:D002311', 'Disease') :: ['aneurysmal dilatation'] @entity1614 :: ('MESH:D008382', 'Disease') :: ['MFS', 'Marfan syndrome'] @entity6099 :: ('2200', 'Gene') :: ['fibrillin-1', 'FBN1'] @entity3454 :: ('MESH:D008945', 'Disease') :: ['mitral valve prolapse'] @entity299 :: ('MESH:D006331', 'Disease') :: ['Heart Diseases'] @entity340 :: ('MESH:D006349', 'Disease') :: ['valve dysfunction']
@entity1614 :: (MESH:D008382,Disease) :: ['Marfan syndrome']
