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Marfan Syndrome

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Marfan syndrome is a heritable condition that affects the connective tissues. This genetic disorder can affect both sexes. About 1 in 7500 people are born with Marfan syndrome. It is named after Antoine Marfan, a French pediatrician who was the first to describe it in 1896.

What is MarfanSyndrome?

Marfan syndrome is a genetic condition that affects the fibers that support and anchor other structures within the body. These fibers are called as connective tissues that is present in many tissues like the skeleton, eyes, heart and blood vessels. Thus, the affected patient suffers from many symptoms related to the skeleton, eyes, heart, nervous system, skin, lungs, blood vessels, etc.

Marfan syndrome is an autosomal dominant disorder and is a relatively rare condition. It can run in families, and individuals from the same family can show different signs and symptoms.

Symptoms of MarfanSyndrome

There are many different signs and symptoms of Marfan syndrome. These symptoms are mostly related to the skeletal system. Symptoms include:

  • Above average height
  • Long, slender limbs with long fingers and toes
  • Arms are disproportionately long, thin with weak wrists
  • Scoliosis
  • Protrusion or sink in appearance of the chest
  • Abnormal joint flexibility
  • High palate
  • Flat feet
  • Hammer toes
  • Stooped shoulders
  • Unexplained stretch marks
  • Deep hip sockets that causes a limited range of motion

Symptoms related to the eyes include:

  • Nearsightedness
  • Dislocation of the lens in one or both eyes
  • Detachment of the retina due to the weakened connective tissues
  • Early glaucoma

Signs and symptoms related to the cardiovascular system include:

  • Shortness of breath, racing heartbeat, heart palpitations and fatigue
  • Angina pectoris that causes pain in the back, shoulder and arm
  • Cold arms, hands and feet due to circulation problems
  • Heart murmur
  • Mitral valve prolapse
  • Aortic regurgitation
  • Aortic dissection that leads to a surgical emergency (usually proves to be fatal)

Symptoms of the Central Nervous System

  • Lower back pain
  • Headaches
  • Dural ectasia that causes weakening connective tissue of the spinal cord
  • Degenerative disk disease

Symptoms of the Lungs

  • Partial collapse or compression of the lung leading to pain, shortness of breath and cyanosis
  • Death, if the above symptoms are not treated promptly

Causes of MarfanSyndrome

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Marfan syndrome is caused by a defective gene. Under normal conditions, the gene helps produce a protein that provides elasticity and strength to the connective tissues. This mutated gene is the FBN1 gene on chromosome 15. It encodes the protein glycoprotein fibrillin-1. The defect causes an increase in transforming growth factor beta or TGF-β. This leads to problems in the connective tissues in the body.

As Marfan syndrome is an autosomal dominant disorder, it requires just one copy of the defective gene to be passed on to the child from the parent. In some cases, Marfan syndrome occurs as a spontaneous mutation.

Diagnosis of MarfanSyndrome

Marfan syndrome is very difficult to diagnose as many other conditions have similar signs and symptoms. Thus, a diagnostic criteria is agreed upon by doctors that helps in diagnosing Marfan syndrome. Some of the diagnostic tests carried out include:

  • Echocardiogram
  • Slit-lamp eye examination
  • Skeletal examination to detect four of the eight typical skeletal features
  • Complete family history
  • Genetic testing for mutation in the FBN1 gene

Treatment of MarfanSyndrome

There is no cure for Marfan syndrome. However, a team of doctors that includes ophthalmologists, cardiologists, orthopedics, etc. work together to reduce the symptoms of Marfan syndrome.

The patient may be given medications that help lower blood pressure and prevent the aorta from enlarging. Eyeglasses may be recommended for patients with eye problems. Surgery in case of eye lens replacement is also carried out.

Other surgical procedures for management of Marfan syndrome include:

  • Aorta repair
  • Scoliosis surgery that helps in straightening the spine
  • Any deformity of the breast bone may be corrected with the help of surgery

Prognosis

With the advanced medical care available today along with a better understanding of Marfan syndrome, affected people have near normal life expectancy than it was around 4 decades ago.

Marfan syndrome is a genetic condition and there is a 50-50 chance of a child getting it. If one is aware of the condition affecting someone in the family previously, they should seek medical help immediately, if they observe any signs of Marfan syndrome in their children.

Written by: Saptakee sengupta
Date last updated: April 06, 2015