Marfan Syndrome is a kind of the genetic disorder that affects the connective tissues of the body. It affects the growth of the body as the connective tissues fail to do its action. The tissues are responsible for holding the cells, organs and tissues together.
Biologically, connective tissues are made up of proteins. These proteins are Fibrillin-1. However, the defect in gene or mutation can cause the increase of another protein called Transforming Growth Factor beta or TGF-β. The increase of the protein in turns creates disorders and defects in the body by affecting connective tissues. The disorders are collectively called Marfan Syndrome.
Marfan Syndrome is a genetic disease and is very common among people. About 1 in 5000 people has Marfan Syndrome. According to medical experts, there is a chance of 50% of the inheritance for Marfan Syndrome from parents to their child. However, sometimes, Marfan Syndrome occurs the first time in the family, and that is called as Spontaneous Mutation. The highly common genetic disorder affects the growth of the human body.
Marfan Syndrome mainly affects the heart and blood vessels. However, it also affects skeleton and eyes. People having the disorder are generally very tall but thin and have disproportionate arms and legs. The disorder can become life threatening depending on the severity, and however early medication can save someone’s life.
Symptoms of Marfan Syndrome
The signs and symptoms of the disorder are very important. The disorder comes with a child when the child is born. However, it is not necessary that the symptoms come immediately. According to the observation, a child might show symptoms like aortic enlargement as part of early signs but in most of the cases, the signs become prominent when the child becomes an adult. It is very important to observe the symptoms of the disease closely so that early medication can be given to the child. The early medicine reaches the child, the better it will be.
There are some typical symptoms of the Marfan Syndrome that are widely observed among the people. These are following.
- The child might have very tall and slender build. It is generally observed in adulthood.
- The arms, fingers, legs and toes will be completely disproportionate with the body. This is one of the key symptoms for the Marfan Syndrome.
- A breastbone can be observed on the patient which would either protrudes outward or it may dip downwards.
- Arched palate and equally disordering and crowded teeth can be observed in the child. The symptom can be observed when child starts having teeth.
- Murmuring of heart is also very common in this disorder. However, this is very rare in childhood.
- Near sightless is a common problem but if it very extreme then it may be pointing towards the Marfan Syndrome. This is a common symptom and should never be ignored.
- Another very common symptoms with Marfan Syndrome is the curved spine. This can be detected at an early stage and should be immediately medically addressed. It can be a sign of Marfan Syndrome.
- Flatness of feet is also very common in Marfan Syndrome.
If the parents are having Marfan Syndrome then it is very likely that children might inherit it. So, in such cases doctors should be always consulted for better health of the child.
Treatment of Marfan Syndrome
Theoretically, there is no treatment available for the Marfan Syndrome. However, with the advancement medical science, many ways have been figured out to address the disorder. If the impact of the disorder is mild then it can be controlled, however with the extreme effect the complications might increase. There are some general methods for treating Marfan Syndrome.
Blood Pressure reducing medication can control the aortic enlargement and risk of rupture of blood vessels. Beta Blocker drug is commonly used for the purpose. This helps the heart to beat slow and pump with less force. Mild near sightedness can be treated with lens and glasses.
If the complication increases, doctor might suggest surgeries for Aorta repairment as well as Scoliosis treatment. Scoliosis helps to replace the curved back bone with customed back brace. Other than that, eye surgeries and Breastbone surgeries can also be carried out.
Life Expectancy of Marfan Syndrome
After the advancement of Medical Science, the Life Expectancy of the Marfan Syndrome has increased considerably. According to the latest data a person can on average live for (41 years +/- 18 years) with the disorder. Previously the data collected for Marfan Syndrome was very less and was (32 years +/- 18 years). The introduction of drugs like Beta Blocker has helped to increase the Life Expectancy say Medical Experts.
Famous People with Marfan Syndrome
There have been many instances when famous people have been diagnosed with Marfan Syndrome. Following are a few people who were diagnosed with the disorder.
- Robert Johnson – Guitarist of ‘Blues’
- Vincent Schiavelli- American Actor
- Flo Hyman- Olympic Silver Medalist and American Vollyball Player
- Jonathan Larson-award winning playwright
- Niccolo Paganini- Italian composer and violinist
- John Tavener-British classical composer
- Bradford Cox-Lead Singer of ‘Deerhunter
Pictures of Marfan Syndrome
Picture 1 – Inheritance of marfan syndrome
Picture 2 – Symptoms, signs of marfan syndrome
Picture 3 – Kyphoscoliosis
Picture 4 – Hands in marfan Patient