Key result
Advances in understanding the pathogenesis of Marfan's syndrome, including fibrillin-1 mutations, have led to new treatment strategies beyond prophylactic aortic repair and beta-blockade.
Discusses the evolution of therapeutic strategies for Marfan's syndrome, from prophylactic aortic repair and beta-blockade to new treatments based on understanding fibrillin-1 mutations.
Marfan's syndrome was once a disease of unknown cause, and those affected often died young from aortic dissection. Today, most patients with Marfan's syndrome who receive comprehensive care have a near-normal life expectancy. Initial therapeutic strategies evolved from clinical research done before the disease pathogenesis was understood. They include prophylactic composite aortic repair, which reduces the threat of aortic dissection, and beta-blockade, which provides medical aortic protection.An understanding of the disease pathogenesis from basic research has resulted in new treatment strategies.1 Mutations in the gene encoding fibrillin-1 were shown in 1991 to be the cause of Marfan's syndrome.2 Fibrillin-1 . . .
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Bowen et al. (2014) conducted an editorial in Marfan's syndrome. Advances in understanding the pathogenesis of Marfan's syndrome, including fibrillin-1 mutations, have led to new treatment strategies beyond prophylactic aortic repair and beta-blockade.
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