Marfan Syndrome

Abstract

Marfan syndrome is a multisystem connective tissue disorder, with primary involvement of the cardiovascular, ocular, and skeletal systems. This autosomal heritable disease is mainly attributable to a defect in the FBN1 gene. Clinical diagnosis of Marfan syndrome has been based on the Ghent criteria since 1996. In 2010, these criteria were updated, and the revised guidelines place more emphasis on aortic root dilation, ectopia lentis, and FBN1 mutation testing in the diagnostic assessment of Marfan syndrome. Among its many different clinical manifestations, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. Recent molecular, surgical, and clinical research has yielded profound new insights into the pathological mechanisms that ultimately lead to tissue degradation and weakening of the aortic wall, which has led to exciting new treatment strategies. Furthermore, with the increasing life expectancy of patients with Marfan syndrome, there has been a subtle shift in the spectrum of medical problems. Consequently, this article focuses on recent advances to highlight their potential impact on future concepts of patient care from a clinical, surgical, and anesthetic perspective.

Distribution of axial length in Chinese congenital ectopia lentis patients: a retrospective study

“…EL may be hereditary or secondary to other causes, the most common secondary cause being trauma [1]. The hereditary causes can be broadly divided into systemic disorders, such as Marfan syndrome [2], Weill-Marchesani syndrome [3], homocystinuria [4] and so on, or those without systemic disorders [1, 5, 6]. EL can also be divided into subluxated lens or luxated lens by the location of the lens.…”

Fibrillin-1, induced by Aurora-A but inhibited by BRCA2, promotes ovarian cancer metastasis

“…FBN1 binds to each other and forms microfibrils with other proteins, which enables the skin, ligaments, and blood vessels to stretch, and supports more rigid tissues such as nerve, muscle, and lenses of the eyes [12]. Mutations in FBN1 gene can result in Marfan syndrome [13, 14], a disorder that affects the connective tissue supporting the body's joints and organs, and Weill-Marchesani syndrome that causes the eye, heart, and skeletal abnormalities [15]. Growing studies have revealed that FBN1 also functions to regulate organ development and homeostasis [16], integrin α5 assembly [17], and gremlin-1 localization in tumor microenvironment [18].…”

Evaluation of functional vision and eye-related quality of life in children with congenital ectopia lentis: a prospective cross-sectional study

“…The prevalence rate of CEL is approximately 6.4/10 million 1. CEL may present with symptoms such as blurred vision, fluctuating vision and monocular diplopia,2–4 and can also occur in conjunction with abnormalities in the skeletal and cardiovascular system, as seen in Marfan’s syndrome (MFS), homocystinuria and Weill-Marchesani syndrome 5–7. MFS accounts for the largest proportion of systemic diseases in CEL patients, while cardiac manifestations associated with MFS can potentially lead to death 8–10.…”

“…1 CEL may present with symptoms such as blurred vision, fluctuating vision and monocular diplopia, [2][3][4] and can also occur in conjunction with abnormalities in the skeletal and cardiovascular system, as seen in Marfan's syndrome (MFS), homocystinuria and Weill-Marchesani syndrome. [5][6][7] MFS accounts for the largest proportion of systemic diseases in CEL patients, while cardiac manifestations associated with MFS can potentially lead to death. [8][9][10] Additionally, surgical intervention and long-term follow-up visits are usually needed for patients with CEL, which may affect their daily lives with mental health repercussions.…”