MARFAN SYNDROME: INSIGHTS INTO PATHOPHYSIOLOGY, DIAGNOSIS, AND TREATMENT STRATEGIES

Abstract

Marfan Syndrome is a single-gene dominant connective tissue problem mostly from harmful changes in the FBN1 gene, affecting the structure of fibers outside cells and proper elastic fiber function. These gene changes affect the TGF-β pathway, causing unusual tissue structure changes and increasing over time heart, eye, and bone problems. Population studies show that Marfan syndrome happens in about one in five thousand to one in ten thousand people worldwide, with nearly one-third of cases caused by new gene changes, showing variable gene effects and lots of differences in features. Visible traits go from mild bone problems to serious heart and blood vessel issues like bigger aorta base, artery bulge, and artery tear, which are still the main signs of sickness and risk of dying. Latest progress in detailed gene sequencing has increased the range of FBN1 gene changes, like hidden gene areas and mutations that change gene processing, helping update mutation categories and the link between genes and features. These findings show a move away from only watching blood vessels to complete heart muscle monitoring in Marfan syndrome care. Treatment plans have developed past beta-blocker drugs and ARB medicines, along with current studies on TGF-β blocking drugs, DNA-changing methods, and medicines affecting tissue structure. Some types of FBN1 gene changes affect the chance and speed of enlargement of the aorta base. Marfan disorder also has heart valve problems, like tricuspid and mitral valve bulge, and the mitral valve problem can be an early sign of serious childhood heart disease. Not related to heart valve problems, recent studies also show internal heart muscle problems and a higher chance of irregular heartbeats in the lower heart chambers. Heart ultrasound is done to find the disease, and new methods like the aorta base measurement help check children early. To see mitral valve separation and heart muscle scarring, heart MRI is very important. Because of the close connection between genes and features, DNA testing helps in finding high-risk cases and confirms the disease. Preventive aorta surgery using set limits, beta-blocker or ARB medicine, and monitoring for life are all included in treatment. This article shows that to improve results and well-being for people with Marfan disorder, complete heart treatment needs teamwork from different specialists and careful monitoring for all types of heart and blood vessel problems