Patients with Marfan syndrome (MFS) develop thoracic aortic aneurysms as the aorta
presents excessive elastin breaks, fibrosis, and vascular smooth muscle cell (vSMC) death …

Abstract Background Patients with Marfan syndrome (MFS) are at risk for cardiovascular
disease. Marfan associated mutations in the FBN1 gene lead to increased transforming …

The latent TGFβ-binding proteins (LTBPs) and fibrillins are a superfamily of large,
multidomain proteins with structural and TGFβ-signalling roles in the extracellular matrix …

The extracellular matrix microenvironment of adipose tissue is of critical importance for the
differentiation, remodeling and function of adipocytes. Fibrillin-1 is one of the main …

Disorders of Connective Tissue Page 1 CHAPTER 45 Disorders of Connective Tissue NP
Burrows1 & CR Lovell2 1Department of Dermatology, Addenbrooke’s Hospital, Cambridge …

Purpose.: ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and
ectopia lentis et pupillae. Dominant FBN1 mutations cause IEL or syndromic ectopia lentis …

Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by
enlargement and superior displacement of the mitral valve leaflet (s) during systole …

Fibrillin-containing microfibrils in elastic and nonelastic extracellular matrices play important
structural and functional roles in various tissues, including blood vessels, lung, skin, and …

Over the past several decades, there has been substantial progress toward understanding
the mechanisms of heart valve function and dysfunction. This review summarizes an …

Background: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical
criteria according to the number of major and minor systems affected following international …