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Marfan's syndrome

Marfan's syndrome is a disorder that affects the connective tissue. The connective tissues hold the body together and provide a framework for growth and development. When a person suffers from this condition, the connective tissue fails to act as it should. Marfan syndrome affects the skeleton, nervous system, skin, lungs, eyes, heart and blood vessels. This syndrome is usually hereditary but spontaneous gene mutation in a person can also cause this condition. Marfan's syndrome can range from light to severe and can occur in many parts of the body. In severe cases this syndrome affects the cardiovascular system.

Marfan's syndrome is caused by a defect in the gene that is responsible to produce a protein that is an important component of the connective tissue. This defect leads to increase in another protein called TGFB (Transforming Growth Factor Beta) that leads to the condition.


Marfan's syndrome symptoms

Symptoms can vary from mild to moderate depending on the severity of the problem. Generally symptoms progress along with the age of the patient. Symptoms depend upon which part of the body is afflicted.

Skeleton


  • People are tall, slim and have loose joints.
  • People have long arms, fingers, legs and toes as this syndrome affects the long bones of the skeleton.
  • Person has long and narrow face.
  • Flat feet
  • Crowded teeth as the mouth is arched.
  • Curved backbone
  • Breastbone either sticks out or caves in.

Lungs

  • Lung collapse in a few cases
  • Breathing difficulties
  • Sleep apnea

Nervous system

  • Swelling of the sac around the spinal column

Skin

Eyes (ocular system)

Cardiovascular system

  • Valve malformations
  • Palpitations
  • Heart murmur
  • Aortic aneurysm
  • Aortic dilatation
  • Aortic dissection

Marfan's syndrome diagnosis

Diagnostic criteria for Marfan's syndrome are sometimes called Ghent Criteria, named after the city in Belgium where doctors decided which features to include on the list.

  • Physical examination
  • Echocardiogram
  • MRI
  • CT scan
  • Slit-lamp exam for the eyes
  • Eye pressure test
  • Blood test for genetic testing

While there is no treatment for the condition as such, treatments are aimed at the associated symptoms.

Dissecting Thoracic Aneurysm

Aneurysm refers to a localized dilation or widening of an artery, especially in the abdominal aorta. Dilation occurs to an extent more than 50%. Dissecting thoracic aneurysm is a condition where a tear occurs on the thoracic aorta. This creates a passage for blood between the aortal layers and leads to a dangerous condition. A false channel is thus created for the arterial blood. Besides it may hamper the blood supply to tributary arteries.

When there is excessive dilation of the artery, an aortic aneurysm can rupture. Internal bleeding can result and can be life-threatening. Usually the symptoms begin to appear when the aneurysm has become fairly large. A person suffering from dissecting thoracic aneurysm experiences severe abdominal and back pain. The pain is high up on the back, between the shoulder blades. There is increased risk of stroke or heart attack. The voice becomes hoarse and there is difficulty in swallowing. Persons suffering from dissection may experience symptoms similar to paraplegia or stroke due to impaired blood supply to the spinal chord and limbs. Marfan's syndrome is a variant of this condition. Traumatic aneurysms are caused by injury to the chest or blunt chest trauma.


Diagnosis of dissecting thoracic aneurysm is done with a routine physical examination as well as chest and abdominal x-rays. MRI scan also helps in determining the precise location of the aneurysm. Transthoracic ultrasonography aids in accurate sizing of the aneurysm. Patients suffering from thoracic aneurysm condition are advised to avoid smoking and get regular medical check ups done. Blood pressure must be lowered with drugs to reduce the impact on the aortal tear. Surgical treatment for dissecting thoracic aneurysm involves replacing the affected part of the aorta with a synthetic graft.


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Collection of Pages - Last revised Date: December 13, 2017