MARFAN SYNDROME

Marfan syndrome



Abstract

In this study we try to explore the concept of “Marfan Syndrome” in a holistic context. The main focus of the research is on “Marfan Syndrome”. The research also analyzes many aspects of “Marfan Syndrome” and tries to gauge its effects. Finally the research describes various factors which are responsible for “Marfan Syndrome” and tries to describe the overall effect of “Marfan Syndrome” .

Table of Content

Introduction1

In Depth Analysis of Marfan Syndrome and its Occurence2

Facts and Figures6

Risk Factors6

Assessment8

Treatment Goals9

Conclusion11

Marfan syndrome

Introduction

Marfan syndrome (MFS), also known as Marfan's syndrome, is an inherited connective tissue disorder characterized by collagen and elastic fiber defects within the eyes and the musculoskeletal and cardiovascular systems; other systems (e.g., the endocrine/metabolic, pulmonary, skin/integumentary, and central nervous systems) are also often involved because elastin fibers occur throughout the body, although not as profusely as in the aorta, ligaments, and the ocular ciliary zonules. Potential complications include aortic dissection, mitral valve prolapse, aortic or mitral valve insufficiency, dilated cardiomyopathy, ocular lens dislocation, retinal detachment, and sudden cardiac death.

Marfan syndrome is inherited as an autosomal dominant condition (meaning there is a 50% chance for each offspring of an affected individual to also have Marfan syndrome). Some of the clinical features include tall stature, joint laxity, diminished muscle mass, and lens dislocation. But the most concerning, and life-threatening, complication is dilation and rupture of the aortic root.

Although there is no cure for Marfan syndrome, the standard of care for decades has been to use beta-blockers to slow the progression of aortic dilation. While this approach has definitely shown clinical benefit in delaying progression of aortic diameter, it unfortunately fails to prevent the need for surgical intervention in many patients.

In Depth Analysis of Marfan syndrome and its Occurrence

MFS is an autosomal dominant condition caused by mutations in the FBN-1 gene, which encodes fibrillin-1, a protein that is essential to the normal formation and maintenance of connective tissue. Although MFS is congenital, signs and symptoms may not become apparent until adolescence or early adulthood. MFS can be diagnosed based on clinical findings; molecular diagnostic testing for mutation of the FBN-1 gene may be used for prenatal or presymptomatic diagnosis or for confirmation when clinical diagnosis is uncertain. MFS should be differentiated from homocystinuria, contractural arachnodactyly, Ehlers-Danlos syndrome, and Shprintzen-Goldberg syndrome.

MFS results in a substantial risk of sudden, premature death from aortic dissection. Prior to the availability of routine corrective surgery, most people with MFS died before reaching the age of 35, primarily from cardiovascular complications. However, recent advances in surgical techniques have improved the life expectancy of patients with MS to 75 years. Pharmacological treatment of symptoms may prevent some complications. Surgical intervention in patients with MFS may include aortic root surgery and grafts; aneurysm repairs; aortic, mitral, and tricuspid valve replacements; and ocular lens surgery in cases that cannot be treated with corrective lenses. Cardiovascular complications account for the majority of deaths among persons with MFS.

Marfan syndrome is caused by mutations in the gene FBNl, which result in reduced production ...