Marfan’s syndrome through the lens of cardiology

Abstract

One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals being one of the commonly inherited disorders affecting connective tissue [1, 2]. The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein [3, 4]. Clinical severity is versatile ranging from individual systemic involvement to involving multiple organ systems. [5] The syndrome is associated with classic ocular, cardiovascular, and musculoskeletal abnormalities, although involvement of the lung, skin, and central nervous system may also occur. [6, 7] Decreased life expectancy occurs primarily due to aortic complications, including aortic root dilatation and dissection. [8]. This case reports is a visual library of assessing and suspecting Marfans syndrome early on at presentation and keeping stringent follow up since there is no single diagnostic test for confirming Marfans but a cluster of congruent findings in consensus that clinch the diagnosis. Early diagnosis allows keen follow up of cardiac features like Aortic dilatation and avoid complications like aortic dissections.