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What is Marfan's Syndrome

Marfan's syndrome is a genetic disorder that weakens the connective tissues which support the parts of the body, leading to structural problems in the eyes, bones, joints, lungs, and heart and blood vessels. Connective tissue damage in the heart and blood vessels (aortic involvement) is very common in a majority of the Marfan's syndrome patients. Aortic involvement leads to the dilation of the aorta (aortic enlargement) and possibly aortic rupture, a life-threatening emergency.

Causes and risks of Marfan's Syndrome

Marfan's syndrome occurs as a result of a mutation in a gene called fibrillin-1 that codes for the majority of the connective tissue in the body. The syndrome is inheritable, so people who have a family history of Marfan's syndrome are at high risk for the condition.

Symptoms of Marfan's Syndrome

Marfan's syndrome is manifested by the presence of symptoms such as near-sightedness, and a tall, thin physique with long hands, legs, fingers and toes. With advancing age, connective tissue damage progresses and the associated symptoms become more noticeable.

Aortic involvement in a Marfan's syndrome patient is characterized by a weakened and enlarged aorta that can tear and leak blood on physical exertion, leading to a life-threatening emergency that necessitates immediate surgical intervention.

The common symptoms associated with aortic involvement are:

  • Severe pain in the chest
  • Abdominal pain
  • Numbness in the legs
  • Loss of consciousness

Mitral valve prolapse (collapse), left ventricle dilation, and pulmonary artery dilation is the other cardiac problems due to aortic involvement in Marfan's syndrome.

Diagnosis of Marfan's Syndrome

Marfan's syndrome is diagnosed based on a physical examination and medical history review. Your physician will suggest an echocardiogram, magnetic resonance imaging (MRI) and computed tomography (CT) check the aortic enlargement, and an electrocardiogram (ECG) to check your heart rate and rhythm.

Treatment for Marfan's Syndrome

Although Marfan's syndrome has no cure, most of the symptoms are manageable and treatable. To manage cardiovascular problems, your physician will prescribe medications (beta-blockers and calcium channel blockers) to slow down the expansion of the aorta by reducing the pressure within the arteries.

In severe cases, aorta surgery is recommended to prevent the tear or rupture of the aorta. Aorta surgery includes the replacement of the damaged aorta and aortal valve with graft and a mechanical valve. You will require regular visits to your physician who will keep a check on further problems with your aorta.


Signet Heart Group
2800 North Highway 75
Sherman, Texas 75090


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Practice Hours: M-F 8am – 5pm

  • American Board of Internal Medicine
  • National Board of Echocardiography
  • Certification Board of Nuclear Cardiology
  • American Board of Vascular Medicine