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Marfan syndrome – Quick revision chart

Marfan syndrome Rare inherited connective tissue disorder – autosomal dominant inheritance Phenotypic expression varies considerably both between and within families Mutation in the FBN1 gene encoding fibrillin -1 ( a major component of microfibrils in the ECF matrix ) on chromosme 15 Pathology is not fully understood but it is a fibrillinopathy Estimated inheritance 1 in 5000 individuals with no predilection for either sex ( occurs worldwide ) Multisystem disorder with skeletal , ocular , skin and CV components ( changes in other systems is also possible )


Cardiovascular -can affect the heart or the vasculature aortic root dilatation
( aorta is affected mainly & the aortic root develops dilatation , aneurysms and dissection ) mitral valve prolapse aortic aneuyrsm and dissection 
 high mortality before modern open heart surgery became available and most patients died from acute aortic dissection or rupture


Ocular -Myopia 60 % individuals have ectopia lentis ( dislocation of ocular lens ) higher risk of retinal detachment , glaucoma


Others -dysmorphic facial features increased risk spontaneous pneumothorax apical blebs skin striae or striae atrophicae


Skeletal -joint laxity dolichostenomelia ( individuals are taller than the general population and have disproportionately long extremities in comparison to the length of the trunk ) pectus excavatum or pectus carinatum scoliosis arachnodactylia -abnormally long , slender or spidery fingers and toes erosion of the lumbosacral vertebrae from dural ectasia flat foot


Diagnosis is established using criteria known as Ghent nosology-a comprehensive assessment based on combination of major and minor clinical manifestations in various organ systems and the family history. The 2010 revised criteria puts greater emphasis on aortic root dilatation and ectopia lentis as the cardinal features of MFS and testing for mutations in FBN1


signs , symptoms vary widely in respect to the severity of presentation , timing of onset and the rate of progression features may manifest at any time between infancy and adulthood early recognition , better imaging , modern medical and surgical treatment has led to improvement in survival of MFS pts


Family h/o MFS previous thoracic aortic surgery pectus excavatum wrist and thumb signs h/o pneumothorax striae ectopia lentis

Based on Sheikhzadeh et al simplified model to identify patients who need workup.


aortic aneurysm & dissection mitral valve prolapse / regurgitation aortic regurgitation lens subluxation cataract , glaucoma , retinal detachment spontaneous pneumothorax inguinal hernias scoliosis.


Multi-disciplinary team use of beta blockers , ACEi , surgical repair of aorta
 ( prophylactic ) avoiding contact sports , competitive sports , isometric exercises and agents that stimulate the cardiovascular system or lead to vasoconstriction patients with MFS can not easily survive over 60 yrs


  1. Judge, Daniel P, and Harry C Dietz. “Marfan’s syndrome.” Lancet (London, England) vol. 366,9501 (2005): 1965-76. doi:10.1016/S0140-6736(05)67789-6 Marfan’s syndrome (
  2. Von Kodolitsch YRobinson PN Marfan syndrome: an update of genetics, medical and surgical management
  3. Radke RMBaumgartnerDiagnosis and treatment of Marfan syndrome: an update
  4. Salik I, Rawla P. Marfan Syndrome. [Updated 2021 Dec 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: Marfan Syndrome – StatPearls – NCBI Bookshelf (
  5. Yuan SM, Jing H. Marfan’s syndrome: an overview. Sao Paulo Med J. 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160. ( Abstract ) Marfan’s syndrome: an overview – PubMed (
  6. Marfan’s syndrome: an overview Sao Paulo Med J. 2010;128(6):360-6 * (
  7. Genomic Education Programme Marfan Syndrome Health Education England Marfan-syndrome.pdf (


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