marfan-syndrome
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Marfan Syndrome

Marfan Syndrome

Last Reviewed : 12/28/2020
Marfan Syndrome

Marfan syndrome (MFS) is a genetic disorder of connective tissue. The degree to which people are affected varies. People with Marfan's tend to be tall, and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones, and the covering of the spinal cord.

Marfan is an autosomal dominant disorder. About 75% of the time the condition is inherited from a parent while 25% of the time it is a new mutation. It involves a mutation to the gene that makes fibrillin which results in abnormal connective tissue. Diagnosis is often based on the Ghent criteria.

There is no cure for Marfan syndrome. Many people have a normal life expectancy with proper treatment. Management often includes the use of beta blockers such as propranolol or if not tolerated calcium channel blockers or ACE inhibitors. Surgery may be required to repair the aorta or replace a heart valve. It is recommended that hard exercise be avoided.

About one in 3,000 to 10,000 individuals have Marfan syndrome. It occurs equally in males and females. Rates are similar between races and in different regions of the world. It is named after Antoine Marfan, a French pediatrician who first described the condition in 1896.

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.

 

 

 

Basic information:

http://www.webmd.com/heart-disease/guide/marfan-syndrome web md heart disease and marfan syndrome

http://www.nhs.uk/conditions/marfan-syndrome/pages/introduction.aspx nhs uk marfan syndrome

http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/home/ovc-20195407 mayo clinic marfan syndrome

https://medlineplus.gov/ency/article/000418.htm medline plus marfan syndrome

http://kidshealth.org/en/teens/marfan.html kids health marfan syndrome

https://www.genome.gov/19519224/learning-about-marfan-syndrome/ national human genome research institute marfan syndrome

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome better health marfan syndrome

http://my.clevelandclinic.org/services/heart/disorders/aortic-aneurysm/marfan cleveland clinic marfan syndrome

http://orthoinfo.aaos.org/topic.cfm?topic=a00615 ortho info marfan syndrome

http://www.marchofdimes.org/complications/marfan-syndrome.aspx march of dimes marfan syndrome

http://www.healthline.com/health/marfan-syndrome health line marfan syndrome

https://www.aapos.org/terms/conditions/68 american association for pediatric ophthalmology and strabismus marfan syndrome

http://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/marfan-syndrome merck manuals(professionl version) marfan syndrome

http://www.dermnetnz.org/topics/marfan-syndrome derm net nz marfan syndrome

http://www.nytimes.com/health/guides/disease/marfan-syndrome/overview.html new york times marfan syndrome

http://umm.edu/health/medical/ency/articles/marfan-syndrome university of maryland medical center marfan syndrome

http://lifeinthefastlane.com/ccc/marfans-syndrome/ life in the fast lane marfan syndrome

http://www.healthdirect.gov.au/marfan-syndrome health direct marfan syndrome

http://chealth.canoe.com/condition/getcondition/marfan-syndrome canoe marfan syndrome

 

Advanced information:

https://ghr.nlm.nih.gov/condition/marfan-syndrome genetics home reference

http://emedicine.medscape.com/article/946315-overview medscape genetics of marfan syndrome

http://www.medicinenet.com/marfan_syndrome/article.htm medicine net marfan syndrome

http://patient.info/doctor/marfans-syndrome-pro patient marfan syndrome

http://rarediseases.org/rare-diseases/marfan-syndrome/ national organisation for rare diseases marfan syndrome

http://www.medicalnewstoday.com/articles/179900.php medical news today what is marfan syndrome?

http://radiopaedia.org/articles/marfan-syndrome radiopedia marfan syndrome

http://www.hughston.com/hha/a_12_2_4.htm the hughston health alert marfan syndrome

http://www.aao.org/eye-health/diseases/marfan-syndrome-symptoms american academy of ophthalmology marfan syndrome

http://www.orthobullets.com/pediatrics/4089/marfans-syndrome ortho bullets marfan syndrome

http://www.physio-pedia.com/marfan_syndrome physiopedia marfan syndrome

https://www.britannica.com/science/marfan-syndrome britannica marfan syndrome

 

Research:

http://www.hindawi.com/journals/crit/2013/809613/ makoto ryosaka, kazuya omoto, taiji nozaki, et al., “successful kidney transplantation for end-stage renal disease in marfan's syndrome,” case reports in transplantation, vol. 2013, article id 809613, 4 pages, 2013. doi:10.1155/2013/809613

gupta n, gupta v, kumar a, kumar g. dural ectasia. indian j anaesth [serial online] 2014 [cited 2016 aug 19];58:199-201. available from: http://www.ijaweb.org/text.asp?2014/58/2/199/130829

udayakumar n, sivapraksh s, rajendiran c. a case of marfans syndrome with aminoaciduria. j postgrad med [serial online] 2007 [cited 2016 aug 19];53:214-5. available from: http://www.jpgmonline.com/text.asp?2007/53/3/214/33871

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s0066-782x2003000900008 arq. bras. cardiol. vol.81 no.1 são paulo july 2003 http://dx.doi.org/10.1590/s0066-782x2003000900008 brief comunication:marfan's syndrome. early and severe form in siblings by maria de fátima m. p. leite et al.,

http://www.nejm.org/doi/full/10.1056/nejmoa0706585#t=article angiotensin ii blockade and aortic-root dilation in marfan's syndrome by benjamin s. brooke, m.d., jennifer p. habashi, m.d., daniel p. judge, m.d., nishant patel, b.a., bart loeys, m.d., ph.d., and harry c. dietz, iii, m.d. n engl j med 2008; 358:2787-2795june 26, 2008doi: 10.1056/nejmoa0706585

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1516-31802010000600009 sao paulo med. j. vol.128 no.6 são paulo dec. 2010 http://dx.doi.org/10.1590/s1516-31802010000600009 review article marfan's syndrome: an overview by shi-min yuan et al.,

http://www.sciencedirect.com/science/article/pii/s2214540013000200 marfan syndrome: an eyesight of syndrome by ashok kumar et al., meta gene volume 2, december 2014, pages 96–105 http://dx.doi.org/10.1016/j.mgene.2013.10.008

http://www.nature.com/ejhg/journal/v15/n7/full/5201851a.html european journal of human genetics (2007) 15, 724–733; doi:10.1038/sj.ejhg.5201851; published online 9 may 2007 marfan syndrome: clinical diagnosis and management by john c s dean

https://molecularcytogenetics.biomedcentral.com/articles/10.1186/1755-8166-5-5 marfan syndrome with a complex chromosomal rearrangement including deletion of the fbn1 gene by mileny es colovati et al., molecular cytogenetics20125:5 doi: 10.1186/1755-8166-5-5

https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0369-8 prevalence, incidence, and age at diagnosis in marfan syndrome by kristian a. groth et al., orphanet journal of rare diseases201510:15 doi: 10.1186/s13023-015-0369-8

 

Other helpful resources(support groups):

https://www.marfan.org/about/marfan the marfan foundation

http://www.marfan-association.org.uk/ marfans association uk

http://www.marfantrust.org/ the marfan trust

 

Related videos:

https://www.youtube.com/watch?v=3f_uiykizlo marfan syndrome

https://www.youtube.com/watch?v=owkqvbvnpzo marfan syndrome examination - signs & symptoms video animation

https://www.youtube.com/watch?v=ibvs40b0cke marfan's syndrome

https://www.youtube.com/watch?v=ibzdsh3r0cc marfan syndrome. about

https://www.youtube.com/watch?v=uavrfrcn2ym marfan syndrome mnemonic

https://www.youtube.com/watch?v=pkwm5yufjjq marfan syndrome

https://www.youtube.com/watch?v=i8ryhpilhqa marfan syndrome - usmle high-yield nuggets

https://www.youtube.com/watch?v=y21c7gc-jfg marfan syndrome diagnosis and treatment-mayo clinic

 

Presentations/quiz/newspaper articles:

http://www.foxnews.com/story/2008/08/21/michael-phelps-unintentionally-raises-marfan-syndrome-awareness.html fox news michael phelps unintentionally raises marfan syndrome awareness

http://www.scientificamerican.com/article/sudden-death-what-is-marfan-s-syndrome/ scientific american sudden death: what is marfan’s syndrome?

http://hub.jhu.edu/2013/12/05/hal-dietz-marfan-syndrome/ hub hopkins doctor makes breakthrough discovery on cause of marfan syndrome blood pressure drug may slow aortic growth, dietz finds

http://www.dailymail.co.uk/health/article-3219520/is-tallest-family-britain-6-3-mother-three-daughters-combined-height-30ft.html daily mail is this the tallest family in britain? 6'3" mother and her three daughters have a combined height of almost 30ft

read more: http://www.dailymail.co.uk/health/article-3219520/is-tallest-family-britain-6-3-mother-three-daughters-combined-height-30ft.html#ixzz4hr2jdruo
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http://www.independent.co.uk/life-style/health-and-families/features/the-long-and-short-of-it-marfan-syndrome-797095.html independent the long and short of it: marfan syndrome

http://www.huffingtonpost.in/entry/isaiah-austin-marfan-syndrome-nba-draft_n_6355344 huffington post how former nba prospect isaiah austin found out he has marfan syndrome

http://www.theatlantic.com/entertainment/archive/2010/04/in-my-hands-a-film-about-life-with-marfan-syndrome/39511/ the atlantic 'in my hands': a film about life with marfan syndrome

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