Marfan Syndrome
A 20-year-old female has been followed for high myopia by her optometrist for many years. She is nearly six feet tall and at an employment physical she was referred for evaluation for possible Marfan syndrome. She has been on the Internet and is now worried about aortic dissection and wants to know what interventions are available to prevent and treat the life threatening complications of Marfan syndrome.
For some background information on Marfan syndrome, review the brief section on Pleiotropy on page 95 and Table 12.2 on page 222 of your textbook. Other useful resources are listed in the following table:
Marfan Syndrome Resources
U.S. National Library of Medicine. (2020). Marfan Syndrome. MedlinePlus.
http://ghr.nlm.nih.gov/condition/marfan-syndrome
Dietz, H. (2001 [Updated 2017]). Marfan syndrome. GeneReview.
http://www.ncbi.nlm.nih.gov/books/NBK1335/
National Organization for Rare Disorders. (2021). Marfan Syndrome.
John Hopkins University’s Online Mendelian Inheritance in Man. (2019). Marfan Syndrome; MFS, OMIM#154700.
http://www.ncbi.nlm.nih.gov/omim/154700
After familiarizing yourself with Marfan syndrome, concisely answer the following questions:
What gene is mutated in Marfan syndrome and where in the genome is the gene located?
Name the protein altered by this mutation and how does this altered protein produce the symptoms observed in Marfan syndrome?
Is Marfan syndrome inherited recessively or dominantly?
Since the patient is a female, would it be wise to advise extreme caution with pregnancy? Explain.
What interventions are available to prevent and treat the life threatening complications of Marfan syndrome?
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