The Marfan syndrome is a connective tissue disorder. It can affect the heart, blood vessels, lungs, eyes, bones and ligaments. The disease is fully penetrant with marked interfamilial and intrafamilial variability. The disease may also affect numerous other structures and organs- including the lungs, eyes, heart, blood vessels, dural sac surrounding the spinal cord, and hard palate. The disorder results from molecular defects in the fibrillin gene that are responsible for the impaired structural integrity of the skeletal, ocular, and cardiovascular systems. However, up to 30% of cases have no family history and are so-called “sporadic” cases. Symptoms of Marfan syndrome may be mild or severe, and may be present at birth or appear in childhood or in adult life. In sporadic cases, Marfan syndrome is believed to result from a spontaneous new mutation. Cardinal features of the disorder include tall stature, ectopia lentis, mitral-valve prolapse, aortic-root dilatation, and aortic dissection. It is inherited as an autosomal dominant trait. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln.
The Marfan syndrome is inherited and affects many parts of the body. The disorder affects males and females from all racial and ethnic groups. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta (aortic root), with aortic regurgitation, and prolapse of the mitral valve. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. It is one of the most common of the more than 100 inherited disorders of connective tissue (material that holds tissues of the body together). The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. It is estimated that at least 1 in 5,000 people in the United States have the disorder. Beta blockers have been used to control some of the cardiovascular symptoms of Marfan syndrome; however, they are not effective against the skeletal and ocular problems, which can also be serious.
Causes of Marfan syndrome
The common causes and risk factor’s of Marfan syndrome include the following:
Marfan syndrome is caused by mutations in the gene fibrillin-1. Fibrillin-1 plays an important role as the scaffolding for elastic tissue in the body.
Having a parent with the disorder.
Mutations in fibrillin-1 also cause overgrowth of the long bones of the body, resulting in the tall stature and long limbs seen in Marfan patients.
Sometimes a new gene defect occurs during the formation of sperm or egg cells, but two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome.
Symptoms of Marfan syndrome
Some sign and symptoms related to Marfan syndrome are as follows:
A high, arched palate and crowded teeth.
Long, lanky frame.
Armspan significantly greater than body height.
Micrognathia (small lower jaw).
Coloboma of iris.
Indented or protruding breastbone.
Long, spidery fingers (arachnodactyly).
Joint pain – some people experience joint pain.
Family history of Marfan syndrome.
Treatment of Marfan syndrome
Here is list of the methods for treating Marfan syndrome:
Medications: Beta blockers (for heart problems) reduce strain on the aorta and heart valves by lowering blood pressure and decreasing the force of heart beats. NSAIDs to relieve joint pain.
Eye (ophthalmic) examinations are also recommended to monitor the function of the eyes. Glasses or contact lenses may be prescribed.
Removable back brace – doctor may prescribe a brace to stabilize the spine.
Anticoagulant medications such as warfarin are needed after artificial heart-valve placement.
Physiotherapy, and sometimes surgery, can prove useful where Marfan syndrome affects the skeleton.
In those people who are unable to take beta-blockers due to asthma or side-effects, a calcium channel blocker, such as verapamil, is recommended.
Psychological counseling is helpful for families coping with feelings of denial, anger, blame, depression, or guilt.