Marfan’s Syndrome is a disease that is passed on from one generation to the next. It affects the connective tissues of the body which support all parts of the body (Mayo Clinic, 2013). Connective tissues also help control how the body grows and develops (Pyeritz, 2008). This genetic disease majorly affects the connective tissues of the heart and blood vessels, eyes, bones, and lungs. The tissues covering the spinal cord are also affected by this genetic disorder. Major complications do arise due to the fact that the disease affects many parts of the body. The complications can be lethal (Pyeritz, 2008). The diseases occurs when a mutation or change occurs on the gene that controls how the body makes fibrillin, a protein that is crucial component of the body’s connective tissues. As had been previously mentioned there are higher chances that parents suffering from Marfan’s Syndrome can pass this to the offspring (Pyeritz, 2008). In fact, there is a 505 chance that a parent can passed their altered genes to each of their children. This disease affects the long bones of the body like the limbs.
Genes and chromosomes linked to this disorder
The syndrome is carried by the gene FBN1 (Kainulainen, Karttunen, Puhakka, Sakai, & Peltonen, 1994). This gene encodes for the connective protein fibrillin. Because Marfan’s Syndrome is a dominant genetic trait children who inherit even one copy of Marfan’s FBN1 from any of the parent develop the syndrome and have a potential of passing this gene to their children (Pyeritz, 2008). Other than the mutation to the gene FBN1, Marfan’s Syndrome occurrence can also be attributed to the presence of transforming growth factor beta (TGF-beta). This protein has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Fibrillin is perceived to be the major structural component of the connective tissues. However, it also binds to the transforming growth factor beta which if present in excess at the lungs, heart valves, and aorta weakens the tissues and causes the features of the Marfan’s Syndrome (Pyeritz, 2008). Angiotensin II receptor antagonists (ARBs) like lasortan reduce the transforming growth factor beta that is associated with Marfan’s Syndrome incidence that is why it is normally detected in small samples in young patients who have severely been affected by the Marfan’s Syndrome.
Populations Affected by Marfan’s Syndrome
Marfan’s Syndrome affects both males and females in equal proportion. It doesn’t exhibit ethnic or geographical bias. One in every three thousand individuals is affected by the Marfan’s Syndrome. It is a fairly common medical condition that 1 in every 10,000 to 20,000 people. It affects people of all races and ethnic backgrounds (Cleveland Clinic, 2013).
Signs and symptoms of the Syndrome
This disease has many signs and symptoms some of which can be confused with other marfanoid syndromes. It is therefore not prudent to diagnose the syndrome on the basis of a person’s appearance. Diagnosis done without the benefit of genetic testing should assess non-skeletal clinical and laboratory findings (Van de Velde, Fillman, & Yandow, 2006).
Individuals with Marfan’s Syndrome have above average heights with long and slender limbs. These individuals have long, thin, weak wrists. Individuals with this disease may also have abnormal indentation and scoliosis. They have abnormal joint flexibility, stooped shoulders, and flat fleet. Patients often complain of pain in the joints (Van de Velde, Fillman, & Yandow, 2006). There are also isolated cases of speech disorders. Those with Marfan’s Syndrome have limited range of motion in the hips because of the protrusion of the femoral head into deep hip sockets.
Marfan’s Syndrome adversely affects the cardiovascular system. Because of this the patients complain of undue fatigue and shortness of breath. Racing heartbeats may also be exhibited with pain to the back, shoulder, or arms (Dyhdalo & Farver, 2011). Because of inadequate circulation of blood in the body, the patients may also have cold arms, hands, and feet. If a patient exhibits signs of angina, there is need for further investigation because there may be high chances that this patient may be suffering from Marfan’s Syndrome. Doctors should be very weary on establishing that a patient is having a dilated aorta or an aortic aneurysm. Heart problems may not be noticed until the connective tissues have been weakened. This is technically referred to as cystic medial degeneration (Dyhdalo & Farver, 2011). This may degenerate into aortic aneurysm or aortic dissection in the ascending aorta. This condition calls for a surgical emergency. It is characterized with pain that radiates down the back with a tearing sensation. Instead of replacing the damaged heart valves they should instead be repaired.
Marfan’s Syndrome does not have major pulmonary symptoms. However, people with the condition sometimes suffer from spontaneous unilateral pneomothorax where air escapes from the lungs and occupy the pleural space between the chest wall and the lungs leading to the partial compression or collapse of the lung (Dyhdalo & Farver, 2011). This is accompanied with pain, shortness of breath, and cyanosis. The Marfan’s Syndrome also causes pathologic changes in the lungs like and congenital malformations.
Marfan’s syndrome affects the casing of the spinal cord known as the dural sac leading to a condition known as dural ectasia. The connective tissues making up this sac is specifically affected. The weakening of this connective tissue though not life threatening can significantly reduces an individual’s quality of life (Dyhdalo & Farver, 2011). The condition can persist without showing any noticeable symptoms. One may only go through some episodes of back pain, leg pain, abdominal pain, and headache. The signs will go away once a person lies flat on his back. To ascertain what is actually wrong it is incumbent that a doctor orders an MRI of the lower spine (Dyhdalo & Farver, 2011). The MRI image will show a dilated pouch wearing away at the lumbar vertebrae.
Detection and diagnosis
This disorder is diagnosed on the basis of family history. Some other major and minor indicators of the disorder in the general population that occur in an individual like the skeletal signs, ocular and cardiovascular signs can also be used in diagnosis (Dyhdalo & Farver, 2011). Some of these conditions have been discussed above. Some outstanding conditions include heart palpitations, pneomothorax, scoliosis, cystic medial necrosis among others (De Paepe, Devereux, Dietz, Hennekam, Pyeritz, 1996). This syndrome is clinically diagnosed. Its diagnosis requires a multidisciplinary approach that requires assessment of different organ system. The eyes, heart and blood vessels, spine, and skeletal systems have to be assessed. Other than the history of family members who may have had the problems other tests like chest x-ray, electrocardiogram, and echocardiogram are used to evaluate changes in the heart and blood vessels (Cleveland Clinic, 2013). The tests also detect heart rhythm problems. If some sections of aorta cannot be visualized using echocardiogram, transesophageal echo (TEE), magnetic resonance imaging, or computed tomography scan can be used. Blood samples can also be used to diagnose the syndrome. The blood test looks for changes in FBN1 gene (Cleveland Clinic, 2013).
Marfan’s Syndrome does not have a cure. However, certain genetic processes can be used to manage it. One such process is called pre-implantation genetic testing therapy (PGT). The process involves genetically testing IVF embryo cells at an early stage and discarding embryos that have been affected by Marfan mutation (Harton, Tsipouras, & Sission, 1996).
The syndrome is also treated by preventative medication for young children that slows down the progression of aortic dilation (Cameron & Vricella, 2005). Cardiologists must regularly monitor the health of the heart valves and the aorta with a view to eliminating arrhythmias and minimizing heart rate and blood pressure (Harton, Tsipouras, & Sission, 1996). Beta blockers control arrhythmias and slow the heart rate (Keane & Pyeritz, 2008). The ACE inhibitors and Angiotensin II receptor antagonists minimize blood pressure.
Research is at advanced stage to show the role TGF-beta plays in the occurrence of the Marfan’s Syndrome owing to the fact that it has deleterious effect on smooth muscle development and integrity of the extracellular matrix. Current researches are also focusing on how to help people with Marfan syndrome live long and productive lives (Marfan Foundation, 2013). Current researches have also identified new disorders related to Marfan Syndrome. These have allowed for better and specific diagnosis. They have also helped to pinpoint more effective treatments for Marfan syndrome and other disorders (Marfan, 2013).
Cameron, D.E. & Vricella, L.A. (2005). Valve-sparing aortic root replacement in Marfan
Syndrome. Seminars in Thoracic and Cardiovascular Surgery 8 (1): 103 — 11.
Cleveland Clinic (2013). Marfan Syndrome. Retrieved from http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx
De Paepe, A., Devereux, R.B., Dietz, H.C., Hennekam, R.C., & Pyeritz, R.E. (1996). Revised
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(4), 417 — 26.
Dyhdalo, K. & Farver, C. (2011). Pulmonary histological changes in Marfan syndrome: a case
Series and literature review. American journal of clinical pathology, 136 (6), 857 — 63.
Harton, G.L., Tsipouras, P., & Sisson, M.E. (1996). Pre-implantation Genetic Testing for Marfan
Syndrome. Molecular Human Reproduction, 2(9), 713-715.
Kainulainen, K., Karttunen, L., Puhakka, L., Sakai, L., & Peltonen, L. (1994). Mutations in the Fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
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Marfan Foundation (2013). Current Research. Retrieved from http://www.marfan.org/about/current-research
Mayo Clinic (2013). Marfan Syndrome. Retrieved from http://www.mayoclinic.com/health/marfan-syndrome/DS00540
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