Marfan Syndrome

Definition

Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. Connective tissue supports and connects many of the body's structures. As a result, Marfan syndrome affects many organ systems, including the:
  • Skeleton, especially the joints
  • Heart and the aorta, which is the artery that leads from the heart
  • Lungs
  • Eyes

Causes

Marfan syndrome is caused by a defect in a gene. The gene controls a protein needed to build connective tissue.In almost all cases, the defective gene is passed from a parent. In rare cases, the defect can be caused by a mutation.

Risk Factors

Factors that increase your risk of Marfan syndrome include:
  • Family members with Marfan syndrome
  • Increased age of parents at the time of a child's birth

Symptoms

Symptoms of Marfan syndrome range from mild to severe. It can affect one or many parts of the body. Some symptoms may be evident at an early age. Others may develop later in life. Some symptoms may worsen with age.Symptoms depend on the parts of the body affected by Marfan syndrome:
  • Irregular heart rhythm
  • Visual difficulties, including nearsightedness and vision loss
  • Problems with bones, including loose joints, curved spine, and long limbs
  • Tall, thin body
  • Back pain
  • Breathing problems
Interior of Heart
Prolapsed mitral valve
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Diagnosis

Marfan syndrome is difficult to diagnose. There is no specific test for the condition. A physical exam will be done. It will study your medical history and your family's medical history. Other tests that may be done include the following:
  • You may need to have your heart examined. This can be done with an echocardiogram.
  • You will need to have a complete eye exam.
If you have Marfan syndrome, your first-degree relatives, such as parents, brothers, and sisters, should be screened for the disorder.

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