Losartan treatment in adult patients with Marfan syndrome: can we finally COMPARE?

Abstract

This editorial refers to ‘Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial’[†][1], by M. Groenink et al. , on page 3491 Marfan syndrome (MFS)1 is an autosomal dominant connective tissue disorder with a prevalence of ∼1 in 5000 individuals. The syndrome results from mutations in the fibrillin-1-encoding gene ( FBN1 ).2 As >600 mutations in FBN1 have been reported, a great variety of phenotypes are encountered. Hence, MFS is a systemic disorder which may differently affect the cardiovascular, ocular, and musculoskeletal systems. The cardiovascular manifestations, including progressive aortic root dilatation, or aortic dissection or rupture, are the leading cause of mortality in MFS. Myxomatous mitral valve changes may also be present and contribute to an adverse outcome.3 The diagnosis of MFS continues to rely on a clinical assessment, as molecular testing for FBN1 mutations is neither sensitive nor specific. Accordingly, the established Ghent criteria4 use a combination of clinical findings in the various organ systems, the family history, and an FBN1 mutation to make the diagnosis of MFS. Currently, the medical management of MFS patients employs serial cardiac imaging studies to measure aortic dimensions and pharmacological treatment to reduce the haemodynamic stress on the aortic wall. Once the aortic diameter reaches a certain threshold, prophylactic aortic root replacement, either by a composite valve graft repair or by an aortic valve-sparing operation, is undertaken. This strategy has extended the average life expectancy from ∼40 years before the era of open heart surgery, up to ∼70 years in patients with MFS.5 However, in spite of this progress, morbidity in patients with MFS remains high as the great majority will suffer an adverse cardiovascular event, such as surgical repair of the aortic root, fatal or non-fatal aortic dissection, or mitral valve surgery. The pharmacological … [1]: #fn-2