Also, Marfan syndrome patients are encouraged to speak with a physician and a genetic counselor before making a decision about whether or not to conceive a pregnancy.
About Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue (the material that holds together the various structures of the body). The syndrome affects the formation and functioning of the heart, blood vessels, lungs, kidneys, eyes and skeleton. Named for the French pediatrician who first described it in 1896, Marfan syndrome may affect males or females of any ethnic origin.
The condition is caused by a defect in a gene that controls the production of fibrillin (a protein found in connective tissue), causing the tissue to weaken or stretch. About three quarters of Marfan syndrome cases occur through an autosomal dominant mode of inheritance. This means that only one parent need have Marfan syndrome to pass the disorder on. For example, if one parent (male or female) has Marfan syndrome, there is a 50 percent chance that each pregnancy will produce offspring inheriting the syndrome, and a 75 percent chance if both parents have Marfan syndrome. About one third of Marfan cases arise spontaneously, from two unaffected parents, due to a mutation in either the egg or sperm. These spontaneous cases are typically associated with a more severe form of the syndrome.
The estimated incidence of Marfan syndrome is between 1 in 10,000 and 1 in 20,000. Approximately 40,000 Americans are diagnosed with the condition each year.
