Introduction: Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue with manifestations in skeletal, cardiovascular and ocular systems. Areas covered: This paper reviews the effect of FBN1 mutation on phenotype, novel surgical techniques and losartan treatment in MFS. Expert opinion: Early diagnosis by the revised Ghent criteria and timely prophylactic (valve-sparing) aortic root replacement are important factors to improve life expectancy. Endovascular aortic stenting should not be done in MFS patients. β-blockers remain the drug of choice in preventing aortic dilation and dissection. Although controversial results are reported, losartan is a safe additive or alternative to β-blockers, especially in patients with side effects or intolerance to β-blocker therapy. The different outcomes in losartan trials may be due to the large amount of different FBN1 mutations, influencing the drug response; patients with an haploinsufficiency mutation seemed to respond better to losartan treatment than patients with a dominant negative mutation. In addition, patients with a haploinsufficiency mutation are at increased risk for aortic dissection and cardiovascular mortality. The final ongoing trials and collaborative meta-analysis are awaited for the definitive role of losartan in patients with MFS. Tremendous progress in the understanding of MFS has been reached.
CITATION STYLE
Jessurun, C. A. C., Bom, D. A. M., & Franken, R. (2016, June 2). An update on the pathophysiology, treatment and genetics of Marfan syndrome. Expert Opinion on Orphan Drugs. Taylor and Francis Ltd. https://doi.org/10.1080/21678707.2016.1184083
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