Que es el síndrome de marfan

Marfan syndrome

References

  • Canadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May;7(5):256-65. doi: 10.1038/nrcardio.2010.30. Epub 2010 Mar 30. Citation on PubMed
  • Chaffins JA. Marfan syndrome. Radiol Technol. 2007 Jan-Feb;78(3):222-36; quiz 237-9. Citation on PubMed
  • Faivre L, Masurel-Paulet A, Collod-Beroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Beroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703. Citation on PubMed
  • Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation. 2008 May 27;117(21):2802-13. doi: 10.1161/CIRCULATIONAHA.107.693523. No abstract available. Citation on PubMed
  • Kirschner R, Hubmacher D, Iyengar G, Kaur J, Fagotto-Kaufmann C, Bromme D, Bartels R, Reinhardt DP. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. J Biol Chem. 2011 Sep 16;286(37):32810-23. doi: 10.1074/jbc.M111.221804. Epub 2011 Jul 22. Citation on PubMed or Free article on PubMed Central
  • Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. Citation on PubMed
  • Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. 2007;52(1):1-12. doi: 10.1007/s10038-006-0078-1

About Marfan Syndrome

Treatment and recovery

Not everyone with Marfan syndrome has all of the complications. People with Marfan syndrome must be closely followed by their doctor to watch for the following complications:

  • Heart disease, including aortic aneurysms and problems with heart valves.
  • Bone deformities such as scoliosis (a curved spine) or a breastbone that is sunken or sticks out.
  • Eye conditions that can lead to blurred vision or loss of sight. These may include retinal detachment (the retina—the part of the eye that senses light in the back of the eye—peels away from its supporting tissue) or dislocation of the lens (the lens shifts out of place).
  • Teeth that are crooked or crowded together, which might require dental procedures.
  • A collapsed lung, which makes breathing difficult.

Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta.2

Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery.

  • Marfan syndrome pictures
  • Marfan syndrome treatment

    • Marfan's syndrome

    Marfan's syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor beta (TGFbeta), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGFbeta antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype.

  • Marfan syndrome causes
      • Que es el síndrome de marfan
  • Marfan syndrome face

    • Overview - Marfan syndrome

    Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues.

    Children usually inherit the disorder from 1 of their parents.

    Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.

    Typical characteristics of Marfan syndrome include:

    • being tall
    • abnormally long and slender limbs, fingers and toes (arachnodactyly)
    • heart defects
    • lens dislocation – where the lens of the eye falls into an abnormal position

    Find out more about the symptoms of Marfan syndrome

    What causes Marfan syndrome?

    Marfan syndrome is hereditary, which means it can be passed to a child from a parent who's affected.

    In around 3 in 4 cases, Marfan syndrome is inherited from 1 parent.

    The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.

    There is therefore a 1 in 2 chance that the child of a parent with Marfan syndrome will inherit the syndrome.

    The gene defect leads to reduced production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.

    The defective fibrillin gene also causes some bones to grow longer than they should.

    This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.

    In the remaining 1 in 4 cases, neither parent has the syndrome.

    In these cases, the fibrillin gene changes (mutates) for the first time in the parent's egg or sperm.

    The mutated gene can be passed on to the child, who will then go on to develop the syndrome.

    Find out more about genetic inheritance

    Diagnosing Marfan syndrome

    Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person.

    As the symptoms of Marfan syndrome do not always develop during childhood, it may not be identified u