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But in no regard was he more peculiar than in his personal appearance. He was singularly tall and thin. He stooped much. His limbs were long and emaciated. His forehead was broad and low.
“A Tale of the Ragged Mountains”, Edgar Allan Poe, 1844
Marfan syndrome (MFS) is a connective tissue disease inherited in an autosomal dominant fashion and associated with a decreased life expectancy. Skeletal features as well as a particular facial appearance are some of its most memorable features and are thought by some to be described as early as 1844 in popular literature.w1 Its earliest description in the medical literature is believed to be by Antoine-Bernard Marfan in 1896, giving the condition its name. Clinically, aortic dilatation and dissection are the most important and life threatening manifestations, but cardiac, ocular, skeletal, and neurological involvement may also impose a considerable burden. In order to facilitate diagnosis and research, expert committees published and consecutively refined a number of consensus documents: The ‘Berlin Nosology’ of 1986, the ‘Ghent Nosology’ of 1996, and more recently the ‘Revised Ghent Nosology’ of 2010. Milestones of therapy were the use of β-blockers to slow progression of aortic dilation1 and the introduction of prophylactic aortic root replacement to avoid dissection.2 Since the discovery of the condition's autosomal dominant inheritance (1931), the abnormalities of the fibrillin-1 protein (1990), and identification of pathogenic mutations in the FBN-1 gene (1991), our pathophysiological understanding has come a long way.
In this article we aim to highlight some of the more recent developments in the diagnosis and treatment of MFS in adults.
Owing to the multi-systemic nature of the disease, establishing the diagnosis of MFS is like piecing together a puzzle. Because aortic and cardiac complications are of foremost importance, often the cardiologist will be at the …
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