Marfan Syndrome is an inherited disorder that affects connective tissue.
- Marfan Syndrome is caused by a mutation in the FBN1 gene, which produces the protein Fibrillin1.
- This disorder was discovered in 1896 by a French doctor named Antoine Marfan.
- Around 1 in every 5,000 people suffer from Marfan Syndrome around the globe.
- 3 out of 4 people with Marfan Syndrome inherited it from a parent.
- Both men and women from all races and ethnicities can be affected by Marfan Syndrome.
Symptoms of Marfan Syndrome Include:
- Myopia: nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye (most common symptom)
- Bone overgrowth and loose joints (joint laxity)
- Long thin limbs: dolichostenomelia
- Overgrowth of the rib bones which cause the chest to cave in (pectus excavatum) or push out (pectus carinatum)
- Scoliosis: curving of the spine
- Cardiovascular deformities (most life threatening)
Diagnosis of Marfan Syndrome:
- Requires a clinical diagnosis based on family history and the presence of the four major clinical diagnostic features:
- Dilatation or dissection of the aorta (a primary artery in the body)
- Dislocated lens of the eye = Ectopia lentis
- Lumbosacral dural ectasia (the enlargement of this membrane around the spinal column) determined by CT scan or MRI---Lumbosacral dural ectasia causes back, abdominal, and leg pain and headaches
- Four of the eight typical skeletal features (scoliosis, long limbs, long fingers and toes, deformed chest)
- Eye problems can typically be treated with glasses. Surgery may be performed when the lens dislocation interferes with vision.
- Skeletal issues such as scoliosis, pectus excavatum, and pectus carinatum can require surgery, depending on the severity.
- Beta Blockers are used as medication to decrease stress on the aorta.
- If the aorta dilates too much, surgery is performed to repair it.
- Patients are advised to avoid contact sports and static exercises. Aerobic activities, like swimming, are suggested.
Prognosis: Patients have an excellent chance of living a long life, if they get the proper treatments.
Genetic pattern of inheritance: Autosomal Dominant
- The Marfan Foundation’s research grant program is increasing the number of researchers studying Marfan syndrome and advancing the research that improves diagnosis and treatment for all the different aspects of Marfan syndrome.
- Their research has also identified new disorders related to Marfan syndrome. This allows for not only for better, more exact diagnosises, but also helps to specify more effective treatments for Marfan syndrome and the related disorders.
Scientist Studying Marfan Syndrome
“Antoine Marfan.” Whonamedit?, Ole Daniel Enersen, 2017, www.whonamedit.com/doctor.cfm/972.html. Accessed 5 Feb. 2017.
“Aortic Root Dilation.” Department of Surgery, CardioVascular Thoracic Institute, 2016, www.surgery.usc.edu/cvti/cardiac-commoncongenitalheartlesions-aorticdiseases.html. Accessed 2 Feb. 2017.
“FBN1 Fibrillin 1 [ Homo Sapiens (human) ].” NCBI, U.S. National Library of Medicine, 2016, www.ncbi.nlm.nih.gov/gene?term=281485550[PUID]&RID=915D97R4016&log$=genealign&blast_rank=1. Accessed 31 Jan. 2017.
“Guide to Common Congenital Heart Lesions and Surgeries.” Department of Surgery, CardioVascular Thoracic Institute, 2016, www.surgery.usc.edu/cvti/cardiac-commoncongenitalheartlesions-aorticdiseases.html. Accessed 30 Jan. 2017.
“Learning About Marfan Syndrome.” National Human Genome Research Institute, National Institutes of Health, 21 Apr. 2014, www.genome.gov/19519224/learning-about-marfan-syndrome/learning-about-marfan-syndrome/. Accessed 3 Feb. 2017.
“Marfan Syndrome.” Epocrates, 2017, online.epocrates.com/diseases/51451/Marfan-syndrome/Prognosis. Accessed 5 Feb. 2017.
“Marfan Syndrome.” Health & Beauty Article, Blogspot, 13 Jan. 2017, mytips10.blogspot.com/2016/01/marfan-syndrome-signs-symptoms-and-treatment.html. Accessed 5 Feb. 2017.
“Marfan Syndrome.” KidsHealth, Nemours Foundation, 2017, kidshealth.org/en/kids/marfan.html. Accessed 5 Feb. 2017.
“Marfan Syndrome. Symptoms.” YouTube, uploaded by SpineLive, 22 Jan. 2016, www.youtube.com/watch?v=PYy_ybeNwPU. Accessed 5 Feb. 2017.
Scientist Studying Marfan Syndrome. The Marfan Foundation, Marfan Foundation, 2014, www.marfan.org/about/current-research. Accessed 5 Feb. 2017.
“What Is Marfan Syndrome?” EPain Assist, 2017, www.epainassist.com/genetic-disorders/marfan-syndrome. Accessed 5 Feb. 2017.
“What Is Marfan Syndrome?” The Marfan Foundation, Marfan Foundation, 2014, www.marfan.org/about/marfan. Accessed 5 Feb. 2017.