Marfan+Syndrome

Marfan Syndrome
 * Name of disease**

One of ten mutations occurs in the gene that codes for the protein fibrillin-1. This protein binds to elastin and contributes to the formation of elastic fibers [1].
 * Root cause**

Marfan syndrome is a disease that attacks connective tissues, mostly by weakening the extracellular matrix. This mainly effects the cardiovascular, skeletal, and ocular systems, but it can also effect skin, lungs, and sac around the spinal column. The severity of symptoms and effected areas depend on the patient, but the most severe symptoms tend to be those effecting the cardiovascular system.
 * Affected systems**

Marfan Syndrome is name for the doctor who discovered the disease in 1896, Antoine Bernard-Jean Marfan. The original case presented was that of a five-year-old girl with disproportionately long appendages. While it turned out this girl probably had Beal’s syndrome, Marfan had found over a hundred similar cases that lead to the founding of a new disease[2].
 * History**

Famous individuals who have Marfan syndrome include Vincent Schiavelli, an actor who played in One Flew Over the Cuckoo’s nest; Bradford Cox, the lead singer of Deerhunter; and John Traverner, a British classical composer. The captain of the 1984 U.S. Olympic volleyball team, Flo Hyman, died from an aortic dissention that resulted from Marfan syndrome. Johnathan Larsen, who wrote the Tony award-winning musical RENT, died from the same cause, never having known he suffered from the condition [3].

Symptoms of Marfan syndrome are dependent on the indiviual patient. Some people with the condition exhibit some characteristics, but not others. Common symptoms in the skeletal system are a tall stature, disporportionately long limbs, depressed or protruding ribs, a high arched palate, a narrow jaw, scoliosis, and joint laxity [2]. Cardiovascular symptoms include dilation or dissection of the ascending aorta, mitral valve prolapse, and dilatio of the main pulmonary artery at an age younger than 40 years. Occular symptoms include a displacement of the eye’s crystalline lens, a flat cornea, and hypoplastic iris or ciliary muscle. Other symptoms that can occur are the separation of the lung from the chest wall and unexplainable stretch marks [4]. There is no cure for Marfan syndrome, but certain symptoms can be treated through medications. The most common medications prescribed are β-blockers, which slows the process of aortic dilation [4]. When cardiac problems worsen, various surgeries can be performed to prevent dissection [5]. There are treatments for symptoms in other body systems. For example, occular problems associated with Marfan syndrome can sometimes be corrected with glasses or contact lenses, but may require surgery to remove the lens [6].
 * Symptoms**
 * Treatments**

Marfan Syndrome can often lead to complications because of a lack of early diagnosis. However, recent advances in detection and treatment have increased the average lifespan of sufferers. However, because of the broad range of symptoms, diagnosis (and therefore treatment) is often delayed. As a result, current research on Marfan syndrome seems to be centered around earlier diagnoses and treatment.
 * Current Research**

Currently, diagnosis is based on clinical criteria, but molecular testing for an FBN1 mutation may be more beneficial in atypical cases. Lebeiro et al. (2011) did a study in which the FBN1 mutation was evaluated in various individuals within an effected family in which two individuals had a type-B aortic dissention. The experiment revealed a nonsense mutation that lead to an aggressive cardiac phenotype. They concluded that differentiating between types of Marfan Syndrome would not have been possible without molecular testing [7].

Roll (2012) conducted a study based on administrative data from 389 patients who were diagnosed with Marfan Syndrome. Roll found that the number of physicians in an area and the distance to the nearest healthcare center did not play a large roll in the immediate diagnosis of the disease. However, a lack of information sharing between physicians may hinder the process. It was suggested that increasing the amount of communication between different physicians and specialists would help obtain faster diagnoses [8].


 * References:**
 * 1) Alberts, B., Johnson, A., Lewis, J., Raff, M., Roberts, K., & Walter, P. (2002). Molecular Biology of the Cell, 4th ed. Garland Science, Taylor and Francis group, NY, pp. 1103
 * 2) McBride, A.R.T., & Gargan, M. (2006). Marfan Syndrome. //Current Orthopaedics//, 20(6): 418-423.
 * 3) National Marfan Foundation. (2013). Notable individuals & celebrities with Marfan Syndrome. Retrieved May 15, 2013, from [].
 * 4) Franken, R., Den Hartog, A.W., Singh, M., Pals, G., Zwinderman, A.H., Groenink, M., & Mulder, B.J.M. (2012). Marfan Syndrome: progress report. Progress in Pediatric Cardiology, 34(1): 9-14.
 * 5) Gao, L., Zhou, X., Zhang, L., Wen, D., Chang, Q., Wu, Y., Sun, L., & Hui, R. (2011). Factors influencing prognosis in patients with Marfan Syndrome after aortic surgery. Journal of Cardiothoracic and Vascular Anesthesia, 25(4): 652-631.
 * 6) Nemet, A.Y., Assia, E.I., Apple, D.J., & Barequet, I.S. (2006). Current concepts of ocular manifestations in Marfan Syndrome. Survey of Ophthalmology, 51(6): 561-575.
 * 7) Lebreiro, A., Martins, E., Almeida, J., Pimenta, S., Bernardes, J.M., Machado, J.C., & Abreu-Lima, C. (2011). Value of molecular diagnosis in a family with Marfan Syndrome and an atypical vascular phenotype. Revista Española de Cardiologìa (English Edition), 64(2): 151-154.
 * 8) Roll, K. (2012). The influence of regional health care structures on delay in diagnosis of rare diseases: The case of Marfan Syndrome. Health Policy, 105(2-3):119-127.