Genetic Testing for Marfan syndrome
Marfan syndrome is an inherited disorder of the connective tissue (fibers that provide the framework and support for the body) that is estimated to occur in at least 1 in 5,000 persons.
- In most cases, Marfan syndrome is inherited and is "autosomal dominant," meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome.
- Women with Marfan syndrome should consider the 50 percent possibility of passing on the gene that causes Marfan syndrome to their unborn child.
- Marfan syndrome is a "variable expression" genetic disorder, in that even though everyone with Marfan syndrome has the same defective gene, not everyone experiences the same symptoms or abnormalities to the same degree.
If you have Marfan syndrome, the Bluhm Cardiovascular Institute recommends that your first-degree adult relatives (parents, siblings and children) be screened (which may include genetic testing) by a physician familiar with Marfan syndrome. Genetic testing involves sending a blood sample to a genetic testing company, which is responsible for running the test. The cost of the test is billed to your insurance company and you are responsible for paying the cost that is not covered by insurance.
The majority of patients with Marfan syndrome can be diagnosed based on clinical findings alone, but genetic testing may be able to identify the specific mutation to determine if other family members are affected.
- Patients with suspected Marfan syndrome may be tested for the fibrillin-1 gene (FBN1) mutation, specific to Marfan syndrome, in order to establish the diagnosis.
- Patients with suspected Loey-Dietz syndrome may be tested for the TGFBR1 and TGFBR2 gene, in order to establish the diagnosis.
- Patients with suspected vascular type (Type IV) Ehlers-Danlos syndrome may be tested for the COL3A1 gene, in order to establish the diagnosis.
For more information regarding Marfan syndrome and related disorders, please contact the Bluhm Cardiovascular Institute at 1-866-662-8467 or request a first time appointment online.
In addition, the most credible source of information about Marfan syndrome is the National Marfan Foundation (NMF). Please visit the NMF website.