One of the most challenging disorders or problems to treat are those that are inherited or present from the birth. If you have some disorder or disability from birth, it takes time to get away or mostly it needs to be treated with surgical process. What can be worse is when it is connected to the connective tissue that supports all the major organs such as heart or skeletal system. Marfan syndrome is one such inherited disorder that occurs in different locations of the body such as heart, eyes, blood vessels and skeleton. It could pose a serious threat in your lifestyle and daily activities as it can hamper your growth and functioning of the body.
What is Marfan Syndrome?
Marfan syndrome is a disorder that is inherited in people or present by default in their bodies by birth. According to Dr. Umesh Shrivastava, Senior Orthopaedic surgeon in Vozart Healthcare Hospital, Kanpur, this disorder causes damage to limbs, heart and blood vessels in majority of cases. This majorly includes having longer limbs such as arms, legs, fingers and toes. It can also affect thickness of the limbs which might appear very thin or thick.
He also said the severity usually depends on the part of marfan syndrome. The risk is majorly in blood vessels and heart because it can cause complications of many kinds that might result to life threatening consequences. If the blood pressure is reduced because of strain on blood vessels then it can cause heart attack. Similarly marfan syndrome in heart could result to problems related to pumping of blood in different tissues and organs of the body. Therefore regular monitoring is required from childhood in both these cases.
Symptoms of Marfan Syndrome
This syndrome usually has physical symptoms that can be identified in most cases. It can only create problem when it is affected blood vessels of the person. Having said that, symptoms of marfan syndrome can also vary by a huge difference in every individual, hence more than 2 symptoms should be considered for having this disorder. You might experience mild or severe symptoms depending on the situation.
- Tall and slender built, not usual
- Disproportionate size of limbs including arms, legs, fingers and toes
- Having a breast bone which creates a dip in the structure, this can be outer or inner dip
- Having heart murmurs
- Having extreme near sightedness
- Condition of flat feet
- Abnormally curved spine, especially sideward bent.
- Crowded teeth or arched palate in the mouth
What are Effects of Marfan Syndrome?
According to doctor, marfan syndrome may cause a variety of problems. It needs to be diagnosed as early as possible in order to decrease the risk. Depending on the area of concern, the effects might differ.
On Limbs, it might cause the child or adult to have difficulty in holding things. He might also have loose or extra tight grip. Playing sports or writing pattern may also differ from usual people. It also affects strength of people; hence it might be more or less depending on every individual.
In heart, it could pose serious threat to functioning of other systems and there is constant risk of heart attack. This is because of larger aorta that could sometime dysfunction or pumps lesser blood in the organs leading to complications. Hence regular monitoring is always required.
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If it occurs in blood vessels, then the risk of heart attack increases because higher blood pressure or lower blood pressure can affect the functioning of the organs. Blood vessel deformities are not even determined properly in the childhood which could increase the risk.
Structural marfan syndrome can cause permanent damage to the posture, it could challenge the person to perform general functions and be particularly harsh on themselves. They may not be able to take part in general activities and sports because of this deformity.
What causes of Marfan Syndrome?
This syndrome is caused because of genetic defect that enables your body to produce a different kind of protein. Because of this protein, it gives your connective tissues some elasticity and strength because of which the deformity or the disorder occurs. Most of the people with this syndrome inherit the abnormal genes from their parents who have this disorder from before. However there is always a 50-50 chance of inheriting marfan syndrome and the defected genes. Sometimes, it can be prevented if there is expert supervision for time of pregnancy.
Complication of Marfan Syndrome
As this syndrome affects different parts of the body, the complications also vary for different parts. Here are some complications you must know about this syndrome.
Cardiovascular complications include-
- Arotic aneurysm- this is a problem related to pressure of blood leaving your heart.
- Aortic Dissection- a condition in which the wall of aorta is made of certain layers
- Valve malformations- this is condition of having weak valves and tissues present in the heart valves, it could lead to heart failure.
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Eye Complications include-
- Lens dislocation because of which you may have difficulty in focussing on a object.
- Retinal problems such as risk of detachment or tear of retina in the eyes
- Risk of cataracts or early onset glaucoma
Other Complications-
- Structural complications such as spine curve could result to scoliosis
- Foot pain or lower back pain might increase with marfan syndrome
- There is also a risk of artery leaving the walls of aorta which can cause problems in pregnancy
Picture Credits- cdc.gov.in, Shutterstock.com