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: web md heart disease and marfan syndrome nhs uk marfan syndrome mayo clinic marfan syndrome medline plus marfan syndrome kids health marfan syndrome national human genome research institute marfan syndrome better health marfan syndrome cleveland clinic marfan syndrome ortho info marfan syndrome march of dimes marfan syndrome health line marfan syndrome american association for pediatric ophthalmology and strabismus marfan syndrome merck manuals(professionl version) marfan syndrome derm net nz marfan syndrome new york times marfan syndrome university of maryland medical center marfan syndrome life in the fast lane marfan syndrome health direct marfan syndrome canoe marfan syndrome


Advanced information: genetics home reference medscape genetics of marfan syndrome medicine net marfan syndrome patient marfan syndrome national organisation for rare diseases marfan syndrome medical news today what is marfan syndrome? radiopedia marfan syndrome the hughston health alert marfan syndrome american academy of ophthalmology marfan syndrome ortho bullets marfan syndrome physiopedia marfan syndrome britannica marfan syndrome


Research: 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:

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: arq. bras. cardiol. vol.81 no.1 são paulo july 2003 brief comunication:marfan's syndrome. early and severe form in siblings by maria de fátima m. p. leite et al., 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 sao paulo med. j. vol.128 no.6 são paulo dec. 2010 review article marfan's syndrome: an overview by shi-min yuan et al., marfan syndrome: an eyesight of syndrome by ashok kumar et al., meta gene volume 2, december 2014, pages 96–105 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 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 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): the marfan foundation marfans association uk the marfan trust


Related videos: marfan syndrome marfan syndrome examination - signs & symptoms video animation marfan's syndrome marfan syndrome. about marfan syndrome mnemonic marfan syndrome marfan syndrome - usmle high-yield nuggets marfan syndrome diagnosis and treatment-mayo clinic


Presentations/quiz/newspaper articles: fox news michael phelps unintentionally raises marfan syndrome awareness scientific american sudden death: what is marfan’s syndrome? hub hopkins doctor makes breakthrough discovery on cause of marfan syndrome blood pressure drug may slow aortic growth, dietz finds daily mail is this the tallest family in britain? 6'3" mother and her three daughters have a combined height of almost 30ft

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follow us: @mailonline on twitter | dailymail on facebook independent the long and short of it: marfan syndrome huffington post how former nba prospect isaiah austin found out he has marfan syndrome the atlantic 'in my hands': a film about life with marfan syndrome

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