Marfan syndrome is a rare disorder. It causes a defect in the body’s connective tissue. This tissue is common throughout the body. It holds the body together and supports many of its structures. As a result Marfan syndrome affects many organ systems, including:
Heart and blood vessels
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 very rare cases, the defect can be caused by a mutation.
Factors that increase your risk of Marfan Syndrome include:
Family members with Marfan syndrome (the child of a person with Marfan syndrome has a 50% chance of inheriting the condition)
Advanced age of parents at the time of a child's birth
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 are listed according to parts of the body they affect:
Heart and Blood Vessels
Abnormalities of the heart valves and blood vessels
Mayo Foundation for Medical Education and Research website. Available at:
The Merck Manual of Medical Information
. 17th ed. Simon and Schuster, Inc.; 2000.
Moura B, Tubach F, Sulpice M, Boileau C, Jondeau G, Muti C, et al; Multidisciplinary Marfan Syndrome Clinic Group. Bone mineral density in Marfan syndrome. A large case-control study.
Joint Bone Spine
. 2006 Sep 14
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