Marfan's syndrome was first described in 1896 by a French pediatrician named Antonin Marfan. It is a rare hereditary disorder that causes connective tissue to be weaker than normal. It is also known as arachnodactyly.
Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues, is a vital component of all organs in the body, and provides strength and elasticity to blood vessels. Therefore, a disorder of connective tissue can cause a variety of abnormal conditions. For people with the Marfan's syndrome, weak connective tissue causes problems of the skin, eyes, blood vessels, and bones.
It is estimated that about one in 10,000 people has Marfan's syndrome. This means that it affects over 20,000 people in the U.S. alone. While there is no cure, there are effective treatments, and most people with the disorder live full active lives.
Marfan's syndrome is inherited as an autosomal dominant trait.
People with Marfan's syndrome are most often unusually tall and slender, with particularly long arms, legs, and fingers in comparison with the rest of their body.
People with the Marfan's syndrome typically have one or more of the following:
- Excessive height, particularly long arms and legs, with long slender fingers and toes
- Nearsightedness (myopia) and retinal detachment
- Indented or protruding breastbone
- Curvature of the spine (scoliosis)
- Mitral valve prolapse
- Aortic toot dilation with aortic regurgitation or aortic dissection
Diagnosis is usually based the clinical findings as well as family history (if known).
Children with Marfan's should have regular eye exams beginning at an early age because nearsightedness is a common condition. It can be corrected with prescription glasses or contact lenses. Many children experience problems with the lens of the eye which can become torn from its supports and become dislocated.
A child with Marfan's syndrome should be checked regularly for curvature of the spine (scoliosis). Children with scoliosis should be referred to an orthopedic surgeon who may prescribe a removable brace to stabilize the spine.
Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs. Some people, without significant heart or lung problems may elect to have corrective chest surgery for purely cosmetic reasons.
Heart problems may occur because the Marfan's syndrome may cause leakage of the mitral or aortic heart valves. These valves control the flow of blood through the heart. Defects of the mitral valve may cause shortness of breath, an irregular pulse, and undue tiredness.
Defects of the aortic valve can lead to serious heart failure. In addition, the main artery in the body, the aorta, can become dangerously weakened and rupture. Rupture of the aorta has been a cause of sudden death in some people with unsuspected Marfan's syndrome so rigorous physical exertion is discouraged.
Because these heart conditions may not produce any obvious symptoms, those with Marfan's syndrome must have regular checkups by a cardiologist to monitor the effects of treatment and to detect possible complications. Annual echocardiography (ultrasound study of the valves and aorta) is recommended. Medications (e.g., beta-adrenergic blockers) may be given to prevent aortic dilation.
What is the likelihood of having Marfan's syndrome if the relative(s) have it?
Is there a test done, in early pregnancy, that will determine of the baby will have Marfan's syndrome?
How early can you determine whether a child has Marfan's syndrome?
How often should a patient with Marfan's syndrome be checked by a cardiologist?
Are there any preventive measures that reduce the risk of heart problems?