Marfan Syndrome – causes, symptoms, diagnosis, treatment

Marfan Syndrome is a disorder of connective tissues which is inherited and spread from parents to offspring. It is abbreviated as MFS. It affects people in different ways. People who are suffering from this disease are mostly tall and thin, their arms, legs, fingers, toes length increases. Their joints stretch abnormally. They also suffer from a condition in which a person has an abnormal curve of the spine, known as scoliosis.

MFS seriously affects the heart and the important artery which brings blood from the heart to all parts of the body (aorta) in which the abnormally thickened mitral valve displacement chances during systole increase.

It also becomes the cause of the disorder in which the aorta becomes 1.5 times enlarged or dilated than its normal size which is known as an aortic aneurysm. Lungs, eyes, bones, and spinal cord covering are areas that are also most commonly affected by this disorder.

It is genetically caused by an Autosomal dominant disorder. A gene which is known as FBN1, which is responsible for the synthesis of Fibrillin. The mutation occurs in this gene which results in low production of fibrillin, it is an important protein in creating and stabilizing connective tissues.

The rate of influence of this disorder is equal in males and females and happens in all races and groups which share a common cultural background because it is a genetic disorder. A survey showed that from 5k to 10k individuals almost 1 individual is infected with this mutation (MFS). About 75% of chances are present that this disease spreads genetically and only 25% of times it appears as a new disorder in individuals. Its diagnosis basis is Ghent Criteria.


The Autosomal dominant disorder that is characterized by manifestation in the skeleton cardiovascular and ocular system known as Marfan syndrome (MFS) Marfan syndrome has a deep effect on all fibrous connective tissues through the body

 Skeletal system

The skeletal system shows the most obvious symptoms of Marfan syndrome: infected people suffer from abnormal height and their fingers and toes are longer than normal people; they have weak limbs with thin wrists.


The health of the eye is also deeply affected by Marfan syndrome. The points which connect the lens with Ciliary muscles and are responsible for centralizing the lens known as Ciliary zonules, become weak due to Marfan syndrome and result in the dislocation of the eye lens from its original position. This happens because of stretchiness in zonules.

Cardiovascular System

People infected with Marfan syndrome have many diseases of the heart and vascular systems like they always suffering from a feeling of unusual tiredness known as fatigue, incomplete breathing rate in other words suffering from shortness of breath, abnormality in cardiac muscles which leads to an abnormal rate of heartbeat, often lead to irregularity in a heartbeat which increases the heartbeat more than normal and is very dangerous.

Chest pain is also a result of Marfan Syndrome which is followed by the pain in arms, back, and shoulders.


Marfan Syndrome does not majorly affect the lungs or pulmonary system. But it sometimes leads to a disease known as Pneumothorax. In this disease, the air is abnormally collected in the space between the chest partially. Shortness of breath or incomplete breath, pain in the chest area caused by Pneumothorax.

Some mutations which occur in the lungs may also define, these mutations are of pathological type, these includes

Cyst changes



Nervous system

Dural Sac which is present in the nervous system and which enclosed the spinal cord, sometimes its connective tissues become weaker and leads to a serious disease known as dural ectasia. Infected persons are unable to live a quality life.


Every individual has an autosomal dominant nature and because of this nature, each individual who is suffering from Marfan Syndrome has 50% chances to pass it on to the next generation. Because this is a genetic defect so it spreads or passes from generation to generation. That’s why there is always more than one family member infected from MFS.

De novo genetic mutations are the cause of MFS in almost 20 to 25% of whole cases. It means this natural disorder occurs in 1 out of 20000 births. Antimorph is the phenomenon which is followed by this syndrome, antimorph is the dominant-negative mutation, also known as haploinsufficiency. Marfan Syndrome is related to the variable expressivity.


A mutation in the gene present on a chromosome is present on a sequence of 15, named FBN1. The responsibility of this gene is to encode a protein whose name is Fibrillin-1. This protein is a glycoprotein which is the part of the matrix present outside the cell known as the extracellular matrix.

The protein known as fibrillin-1 is necessary for the formation of extracellular matrices properly. This formation must include elastic fiber maintenance and living matter formation in the cell. The extracellular matrix also retains the structure of the cell and protects the cell from any kind of damage and deformation, also responsible for reserving the factors which are responsible for growth.

A mouse was taken which is genetically modified i-e transgenic mouse. The mutation was induced in its fibrillin-1 protein by making its level lower than normal fibrillin-1 concentration. So, as a result, the mouse carried a mutation in its body known as Marfan syndrome. This experiment helped a lot to reveal the pathogenicity of MFS. It also revealed many of the diseases caused by Marfan Syndrome in humans.

Transforming growth factor has a particular role in Marfan syndrome. The protein fibrillin-1 has a direct linkage with a dormant type of TGF and makes it separated and makes it not be able to disband its biological performance. A very simple model shows that if there is improper sequestration then there will be the inverse relation of TGF-β and fibrillin-1 concentration; it means that reducing the level of fibrillin-1 leads to the high level of TGF factor. As TGF level increases, the disease shows its symptoms it does not show any type of inflammation but it lowers the elasticity of fibers in connective tissues and in the extracellular matrix which leads progression towards Marfan syndrome


The diagnosis can be made if any of the following are present in family history

  • Ectopia Lentic, Aortic Dilation or Dissection
  • Causal Mutations in Fbn1 gene
  • If the patient has the aortic criteria or positive family history then a systematic score in the Revised Ghent Criteria is needed
  • Echocardiography Screening is recommended at the interval of 6-12 month
  • Patient avoids caffeine and high intensity


Marfan syndrome can cause damage in every part of the body due to the features of this Marfan syndrome various types of ramifications can be seen in different parts of the body.

Other cardiovascular ramifications are:

  • Aortic aneurysms
  • Aortic dissection
  • Valve malformations


Marfan syndrome is a disease that is not curable, but the advancement in time has made it possible for an infected person to increase in its life span which is almost equal to normal people. Regular checkup is preferred to check the health of the aorta and as a result to check the heart valves.

Each issue which is caused by Marfan syndrome is light up and then treatment is done with its accordance, it may be via medication or surgery, in children treated with proper medicines is done so it can slow the process of dilation in their main artery, which is the main purpose of Marfan syndrome’s treatment because aortic dilation leads to increase in the heart rate and blood pressure so its treatment helps to reduce the blood pressure and rate of heartbeat.

It also protects from heart rhythms by creating good coordination between beats and ultimately leads to the good health of heart valves.


The management of this disease mostly prefers to use the blockers from the beta category which includes propranolol and if it is not bearable for patients then inhibitors like ACE or the blockers which block calcium channels are used.


If the dilation in the aorta extends to an abnormal diameter i-e a balloon-like outgrowth is formed which increases the diameter to a critical level and it may lead to dissection or breakdown of valves and aorta, this condition when happened then surgery becomes a necessity.

Many vascular surgeries or aortic graft surgery is present for this disorder but their undertaking is very serious and it is successful mostly when it is selected on an optional basis. Surgery becomes more stressful when the issue is the dissection or rupture of the aorta. New techniques for surgery like valve-sparing techniques are now becoming more common.

People suffering from aortic aneurysms have very rare chances to live longer but the people who are suffering from other types of aneurysms like thoracic or vessels have many chances to live longer because the repair for them is not as serious an issue as for aortic aneurysm.

The demonstration of Marfan syndrome may also be critical in the ocular or skeletal system but has not any threat to life. This shows its symptoms so it can be treated with proper medications. Muscle relaxants are also used in their treatment.

Sometimes such diseases occur in the spinal cord due to MFS which are asymptomatic and their treatment is not inclined towards surgery, so, there should be proper planning and imaging of the disorder and then treatment should be prescribed. Pneumothorax treatment depends on the quantity of air present in the pleural cavity.

Pneumothorax is the air leakage present between the chest walls and lungs. If the pneumothorax is mild i-e short, then it will recover by itself in 2 to 3 weeks without treatment. If the pneumothorax occurs repeatedly then surgery of the chest is needed. If the pneumothorax level is severe i-e large then there is an immediate emergency and requires immediate treatment.

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