Those with Marfan Syndrome are often abnormally tall, have pronounced sternums, and possess abnormally long limbs and fingers (6). The physical features, while undoubtedly difficult to live with, are not particularly dangerous. Often, what ends up killing a victim of Marfan Syndrome are aortic aneurysms or aortic dissections. The former is an elastic bulge in the lining of the aorta, an important artery which extends directly from the heart to feed oxygen to the brain, upper body, and finally lower body. The latter is a painful and usually fatal breaking of the aorta, which results in a horrible tearing sensation throughout the bodies of its doomed sufferers. Both dangers are caused by the molecular properties of Marfan Syndrome. Specifically, …show more content…
These elastic fibers are essential to the integrity of one’s extracellular matrix. Much of the danger arising from Marfan Syndrome is a result of a specific type of these extracellular matrices known as the basement membrane that supports the endothelium, which, in turn, makes up the inner lining of blood vessels, including the vital aorta (5). So, if the extracellular matrix is weakened, the endothelium will not be held in place properly. As such, stress on the endothelium of one with Marfan Syndrome causes more damage to the vital tissue. Said damage is also harder to repair with weak basement membranes, as they also function as scaffolding for the body to repair and regenerate endothelial tissue on. The unfortunate result of this particular pathology is that one’s heart becomes especially vulnerable to stretching and structural damage from high blood pressure and high heart rate. The valves of the heart, as well as the aorta, are easily eroded out of their proper shapes when one lacks a sturdy extracellular matrix, and so those without a gene coding for fibrilin-1 must constantly monitor their heart health lest they die of terrible and sudden internal bleeding …show more content…
In addition, sufferers often possess a striking abnormality of the eyes. The weakening of ciliary zonules causes partial lens dislocation. In other words, the stretching of abnormal elastic fibers moves the lens of the eyeball out of its proper position behind the iris, often causing moderate visual issues like nearsightedness and blurred vision. Technically, the lens can slip far enough off course to cause glaucoma, but, thankfully, this isn’t too common. Another generally non-lethal side effect of Marfan Syndrome is an intimidating-sounding condition known as spontaneous pneumothorax (8). Commonly known as “collapsed lung,” pneumothorax involves the collection of air in the pleural space between the lung and chest wall that detaches the two and releases the pressure difference between the inter-organ space and the lung that is so vital to breathing. There is sparse research on this particular aspect of Marfan Syndrome, but it is reasonable to postulate that, in this case, pneumothorax occurs because of weak connective tissue between the lung and the chest wall. Finally, the afflicted also have to contend with dural ectasia, or the destruction of connective tissue within the dural sac which protects the spinal cord. It affects a