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Marfan Syndrome

Marfan syndrome is a heritable genetic disorder that affects the body’s connective tissue. A mutation in the gene responsible for the production of fibrillin-1 occurs, resulting in problems in connective tissues throughout the body. 



About 1 in 5000 people have Marfan syndrome. These people are usually tall and thin, and display hyper-extensibility of joints. Marfan syndrome can also lead to eye complications such as lens dislocation, retinal problems and early-onset glaucoma as well as skeletal issues such as scoliosis.

 



However, the most dangerous complications of Marfan syndrome are the cardiovascular complications. Patients diagnosed with Marfan syndrome are at higher risks of aortic aneurysms and aortic dissection, both of which can be fatal. 


Due to problems with the body’s connective tissue, pressure of the blood leaving the heart can cause the wall of the aorta to bulge out, resulting in an aneurysm. For most people with Marfan syndrome, this occurs at the root of the aorta. A ruptured aneurysm can lead to fatal consequences. 


Furthermore, aortic dissection can also occur when a small tear in the innermost layer of the aorta’s wall allows blood to squeeze in between the inner layer (tunica intima) and the outer layer (tunica adventitia). This causes pain in the chest and the back. An aortic dissection also weakens the structure of the aorta and can result in a rupture, which may be fatal.


Famous people that suffer from Marfan syndrome include Abraham Lincoln, Julius Caesar and Michael Phelps.


For patients with Marfan syndrome, early diagnosis is critical. Medication can be given to lower their heart rate and blood pressure, which can lower the risks of cardiovascular complications. Being able to recognise the signs of Marfan syndrome can prove to be life-saving for some of these patients.



Sources: 

https://www.singhealth.com.sg/patient-care/conditions-treatments/marfan-syndrome/treatment

https://www.marfan.org/about/marfan

https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

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