Síndrome de Marfan
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Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
Descrição
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.
Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.
Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations).
Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related to weight gain or loss, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.
The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Depending on the onset and severity of signs and symptoms, Marfan syndrome can be fatal early in life; however, with proper treatment, many affected individuals have normal lifespans.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Síndrome de Marfan
MFS
Related patient information and medicines
Patient information leaflet
Síndrome de Marfan
Marfan syndrome (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder which people are born with and which lasts lifelong. Marfan syndrome can affect different people in different ways. Marfan syndrome can affec... Marfan syndrome is rare and is thought to affect about 1 in 3,000 to 1 in 5,000.
Patient information leaflet
Regurgitação mitral
What causes mitral regurgitation. Sometimes regurgitation is rarely caused by congenital structural deformity of or damage to the leaflets, chordae, and/or papillary heart muscles. It sometimes occurs with connective tissue disorders tais como Marfan's syndrome, systemic lupus erythematosus or Ehler's-Danlos syndrome. Rheumatic heart disease is very.
Patient information leaflet
Distúrbios do espectro de hipermobilidade
What other diagnoses are similar to hypermobility spectrum disorders. Other conditions which need to be ruled out if your child has joint and muscle pains are: Síndrome de Marfan. Juvenile idiopathic arthritis. Rheumatoid arthritis. Ankylosing spondylitis. Fibromy... Young people who continue to have HSD symptoms when fully grown, as adults are at.
Patient information leaflet
síndrome de Ehlers-Danlos
The Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. Os sintomas são worst in infancy and tend to improve with age so that some children manage to use orthoses (such as braces and callipers) to assist in.
Patient information leaflet
Síndrome de alergia oral
Oral allergy syndrome causes symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) is an allergic condition which causes itching.
Patient information leaflet
Síndrome anticonvulsivante fetal
Síndrome anticonvulsivante fetal (FACS) - also known as fetal valproate syndrome and fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Leitura adicional e referências
- Síndrome de Marfan; MedlinePlus, National Library of Medicine.
- 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.
- Chaffins JA. Marfan syndrome. Radiol Technol. 2007 Jan-Feb;78(3):222-36; quiz 237-9.
- 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.
- 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.
- 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.
- 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.
- 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. Epub 2006 Oct 24.
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC; National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 2008 Aug 12;118(7):785-91. doi: 10.1161/CIRCULATIONAHA.108.783753. No abstract available.
- Pyeritz RE, Loeys B. The 8th international research symposium on the Marfan syndrome and related conditions. Am J Med Genet A. 2012 Jan;158A(1):42-9. doi: 10.1002/ajmg.a.34386. Epub 2011 Dec 2.
- Pyeritz RE; American College of Medical Genetics and Genomics. Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med. 2012 Jan;14(1):171-7. doi: 10.1038/gim.2011.48. Epub 2012 Jan 5.
- Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29.
- Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354.
- The Marfan Foundation
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