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| | __NOTOC__ |
| | '''For patient information click [[{{PAGENAME}} (patient information)|here]]''' |
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| {{Infobox_Disease | | {{Infobox_Disease |
| | Name = Marfan syndrome | | | Name = Marfan syndrome |
| | Image = Marfansyndrome.jpg | | | Image = Marfansyndrome2.jpg |
| | Caption = | | | Caption = |
| | DiseasesDB = 7845 | | | DiseasesDB = 7845 |
| | ICD10 = {{ICD10|Q|87|4|q|80}} | | | ICD10 = {{ICD10|Q|87|4|q|80}} |
| | ICD9 = {{ICD9|759.82}} | | | ICD9 = {{ICD9|759.82}} |
| | ICDO = | | | ICDO = |
| | OMIM = 154700 | | | OMIM = 154700 |
| | MedlinePlus = 000418 | | | MedlinePlus = 000418 |
| | eMedicineSubj = ped
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| | eMedicineTopic = 1372
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| | eMedicine_mult = {{eMedicine2|orthoped|414}}
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| | MeshID = C17.300.500 | | | MeshID = C17.300.500 |
| }} | | }} |
| {{SI}} | | {{Marfan's syndrome}} |
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| '''Editors-In-Chief:''' [[William James Gibson]], [[C. Michael Gibson, M.S., M.D.]]
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| '''Associate Editor-In-Chief:''' {{CZ}}
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| {{Editor Help}}
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| ==Overview==
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| '''Marfan syndrome''' (or Marfan's syndrome) is a connective tissue disorder most often caused by defects in the [[Fibrillin-1 gene]] ([[FBN1]]). Patients with Marfan's syndrome are at significant risk of skeletal, cardiovascular and ocular complications.
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| It is sometimes inherited as a [[Autosomal dominant|dominant]] trait. It is carried by a gene called [[FBN1]], which encodes a connective protein called [[fibrillin]]-1. People have a pair of FBN1 genes. Because it is [[Dominance (genetics)|dominant]], people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.
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| People with Marfan's are typically tall, with long [[Limb (anatomy)|limb]]s and long thin fingers.
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| ==Pathophysiology==
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| In addition to being a connective protein that forms the structural support for tissues outside the cell, fibrillin-1 binds to another protein, [[Transforming growth factor beta]] ([[TGF-β]]). [[TGF-β]] can cause inflammation. Researchers now believe that the inflammatory effects of TGF-β, on the lungs, heart valves, and aorta weaken the connective tissues and cause the features of Marfan syndrome. In so far as [[angiotensin II receptor blocker]]s ([[Angiotensin II receptor antagonists|ARBs]]) reduce TGF-β, these agents have been administered to young Marfan syndrome patients, and the expansion of the aorta was indeed reduced.<ref>{{cite journal |author=Pyeritz RE |title=A small molecule for a large disease |journal=N. Engl. J. Med. |volume=358 |issue=26 |pages=2829–31 |year=2008 |month=June |pmid=18579819 |doi=10.1056/NEJMe0804008}}</ref>
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| ==Differential Diagnosis==
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| The following disorders have similar signs and symptoms of Marfan syndrome:
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| * [[Arachnodactyly|Congenital Contractural Arachnodactyly (CCA) or Beals Syndrome]]
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| * [[Ehlers-Danlos syndrome]]
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| * [[Homocystinuria]]
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| * [[Loeys-Dietz syndrome]]
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| * [[MASS phenotype]]
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| * [[Stickler syndrome]]
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| ==Etymology==
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| In 1896, French pediatrician Antoine-Bernard Jean Marfan described a five year old girl, Gabrielle P, with skeletal features characteristic of Marfan Syndrome1, pieds d’aragne (French, spider feet) and dolichostenomalie (French, longheadedness meaning long limbs). In 1902, Emile Charles Achard described a similar syndrome, reporting scoliosis and arachnodactyly (abnormally long and slender fingers) as essential features2. Salle contributed the observation in 1912 that patients with arachnodactyly had thickened mitral leaflets, ocular abnormalities and increase in eosinophilic cells in the pituitary3,4. The observation that ectopic lens was associated with other symptoms was first made by Boerger in 19145 . Weve established the autosomal dominant inheritance of the disease, still known as arachnodactyly, in 19316. Weve postulated that the syndrome arose from a defect in mesenchymal tissue and thus designated the syndrome dystrophia mesodermalis congenita typus Marfanis. Association of the syndrome with aortic dilation and dissection, the major causes of mortality in individuals with Marfan Syndrome were identified in 1943 by RW Baer et al. as well as Etter and Glover7,8. Harry C Deitz finally established the molecular basis of Marfan Syndrome in his landmark 1991 Nature paper, showing that dysregulation of TGF-beta signaling is responsible for the observed manifestations9.
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| ==Epidemiology==
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| Marfan syndrome affects males and females equally,<ref name="marorg">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=6&menu_item_id=3|title=The role of heredity and family history|publisher=National Marfan Foundation|year=1999}}</ref> and the mutation shows no geographical bias. Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)<ref name="marorg"/> to 200 000<ref name="mednet">{{Cite web|url=http://www.medicinenet.com/script/main/art.asp?articlekey=63689|title=New, Deadly Relative of Marfan's Syndrome Discovered|publisher=MedicineNet.com|year=2006}}</ref> Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its [[autosomal dominant]] nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to ''[[de novo mutation|de novo]]'' [[genetic mutation]]s<ref name="robspath">{{cite book | title=Robbins Pathologic Basis of Disease| last=Cotran| coauthors=Kumar, Collins| publisher=W.B Saunders Company| location=Philadelphia| id=0-7216-7335-X}}</ref> — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of [[dominant negative mutation]] and [[haploinsufficiency]].<ref name="Judge_et_al_2004">{{cite journal | last = Judge | first = Daniel P. | coauthors = Nancy J. Biery, Douglas R. Keene, Jessica Geubtner, Loretha Myers, David L. Huso, Lynn Y. Sakai, Harry C. Dietz | title = Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. | journal = The Journal of Clinical Investigation | volume = 114 | issue = 2 | pages = 172-181 | doi = 10.1172/JCI200420641 | id = PMID 15254584 | url = http://www.jci.org/cgi/content/full/114/2/172}}</ref><ref name="Judge_et_al_2005">{{cite journal | last = Judge | first = Daniel P. | coauthors = Harry C. Dietz | title = Marfan's syndrome. | journal = Lancet | volume = 366 | issue = 9501 | pages = 1965-76 | year = 2005 | doi = 10.1016/S0140-6736(05)67789-6. | id = PMID 16325700 | url = http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16325700}}</ref> It is associated with variable expressivity. [[Incomplete penetrance]], has not been definitively documented.
| | '''Editors-In-Chief:''' [[William James Gibson]], [[C. Michael Gibson, M.S., M.D.]]; {{AE}} {{CZ}}; {{CA}} |
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| == Pathogenesis == | | == [[Marfan's syndrome overview|Overview]] == |
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| Marfan syndrome has been linked to a defect in the ''FBN1'' [[gene]] on [[chromosome]] 15,<ref>{{cite journal | author = McKusick V | title = The defect in Marfan syndrome. | journal = Nature | volume = 352 | issue = 6333 | pages = 279-81 | year = 1991 | id = PMID 1852198}}</ref> which [[Genetics|encodes]] a [[glycoprotein]] called [[fibrillin]]-1. Fibrillin is essential for the formation of the [[elastic fiber]]s found in connective tissue, as it provides the scaffolding for [[tropoelastin]].<ref name="robspath">{{cite book | title=Robbins Pathologic Basis of Disease| last=Cotran| coauthors=Kumar, Collins| publisher=W.B Saunders Company| location=Philadelphia| id=0-7216-7335-X}}</ref> Elastic fibers are found throughout the body but are particularly abundant in the [[aorta]], [[ligament]]s and the [[Zonule of Zinn|ciliary zonule]]s of the eye, consequently these areas are among the worst affected. Without the structural support provided by fibrillin many connective tissues are weakened, which can have severe consequences for support and stability.
| | == [[Marfan's syndrome historical perspective|Historical Perspective]] == |
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| A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. It has been found that simply reducing the level of normal fibrillin-1 causes a Marfan-related disease in mice.<ref name="micefib">{{cite journal | author=Lygia Pereira, ''et al.''| title=Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1| journal=Proceedings of the National Academy of Sciences| year=1999| volume=96| issue=7| page=3819-3823| url=http://www.pnas.org/cgi/content/full/96/7/3819}}</ref>
| | == [[Marfan's syndrome pathophysiology|Pathophysiology]] == |
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| [[Transforming growth factor]] beta (TGFβ) plays an important role in Marfan syndrome. Fibrillin-1 binds TGFβ and inactivates it. In Marfan syndrome, reduced levels of fibrillin-1 allow activated TGFβ to damage the lungs and heart. A defect in the gene ''TGFβR2'' on [[chromosome]] 3, a [[receptor protein]] of TGFβ, has also been related to Marfan syndrome.<ref name="tgf2beta">{{Cite web|url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=gene&dopt=full_report&list_uids=7048|title=TGFBR2 transforming growth factor, beta receptor II|publisher=NCBI|year=2007|author=Entrez Gene|format=Entrez gene entry}}</ref> Marfan syndrome can often be confused with [[Loeys-Dietz syndrome]], a similar connective tissue disorder resulting from mutations in the TGFβ receptor genes ''TGFβR1'' and ''TGFβR2''.<ref name="loeysdietz">{{Cite web|url=http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=84|title=Related Disorders: Loeys-Dietz|publisher=National Marfan Foundation}}</ref> | | == [[Marfan's syndrome differential diagnosis|Differentiating Marfan's Syndrome from other Diseases]] == |
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| ==Related disorders== | | == [[Marfan's syndrome epidemiology and demographics|Epidemiology and Demographics]] == |
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| The following conditions that can result from having Marfan's syndrome and may also occur in people without any known underlying disorder. what leads doctors to a diagnosis of marfan syndrome is family history and a combination of major and minor indicators of the disorder that occur in one individual which is a rare manifestation in general population. Example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual.
| | == [[Marfan's syndrome screening|Screening]] == |
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| *[[Aortic aneurysm|Aortic aneurysm or dilatation]]
| | == [[Marfan's syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]] == |
| *[[Arachnodactyly]]
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| *[[Bicuspid aortic valve]]
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| *[[Cysts]]
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| *[[Craniosynostosis]]
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| *[[Cystic medial necrosis]]
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| *[[Dural ectasia]]
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| *[[Ectopia lentis]]
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| *[[Flat feet]]
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| *[[Gigantism]]
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| *[[Glaucoma]]
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| *[[Hernias]]
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| *[[Hyperflex|Hypermobility of the joints]]
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| *[[Malocclusion]]
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| *[[Mitral valve prolapse]]
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| *[[Myopia]]
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| *[[COPD|Obstructive lung disease]]
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| *[[Osteoarthritis]]
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| *[[Pectus carinatum]] or [[pectus excavatum|excavatum]]
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| *[[Pneumothorax]]
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| *[[Retinal detachment]]
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| *[[Scoliosis]]
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| *[[Sleep apnea]]
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| *[[Stretch marks]]
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| ==Symptoms== | | == Diagnosis == |
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| There are no signs or symptoms that are unique to Marfan syndrome. It is usually a single apparent sign or symptom that leads doctors to look for others and eventually to diagnose the syndrome, which affects connective tissue in diverse organs and systems. Even affected individuals in the same family might exhibit various combinations and severities of symptoms.
| | [[Marfan's syndrome diagnostic criteria|Diagnostic Criteria]] | [[Marfan's syndrome history and symptoms|History and Symptoms]] | [[Marfan's syndrome physical examination|Physical Examination]] | [[Marfan's syndrome laboratory findings|Laboratory Findings]] | [[Marfan's syndrome electrocardiogram|ECG]] | [[Marfan's syndrome chest x ray|Chest X Ray]] | [[Marfan's syndrome CT|CT]] | [[Marfan's syndrome MRI|MRI]] | [[Marfan's syndrome echocardiography or ultrasound|Echocardiography ]] | [[Marfan's syndrome other imaging findings|Other Imaging Findings]] | [[Marfan's syndrome other diagnostic studies|Other Diagnostic Studies]] |
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| ===Skeletal system=== | | == Treatment == |
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| The most readily visible signs are associated with the skeletal system. Many individuals with Marfan Syndrome grow to above average height. Some have long slender limbs with fingers and toes that are also abnormally long and slender ([[arachnodactyly]]). An individual's arms may be disproportionately long. In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal signs. Abnormal curvature of the [[Vertebral column|spine]] ([[scoliosis]]) is common, as is abnormal indentation ([[pectus excavatum]]) or protrusion ([[pectus carinatum]]) of the [[sternum]]. Other signs include abnormal joint flexibility, a high [[palate]], [[malocclusions]], flat feet, stooped shoulders, and unexplained [[stretch marks]] on the skin. Some people with Marfans have [[speech disorder|speech disorders]] resulting from symptomatic high palates and small jaws.
| | [[Marfan's syndrome medical therapy|Medical Therapy]] | [[Marfan's syndrome surgery|Surgery]] | [[Marfan's syndrome primary prevention|Primary Prevention]]| [[Marfan's syndrome secondary prevention| Secondary Prevention]] | [[Marfan's syndrome cost-effectiveness of therapy| Cost-Effectiveness of Therapy]] | [[Marfan's syndrome future or investigational therapies|Future or Investigational Therapies]] |
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| ===Eyes=== | | == External links == |
| [[Image:Lens marfan.gif|thumb|left|160px|Lens dislocation in Marfan's syndrome, the lens was kidney-shaped and was resting against the [[ciliary body]].]]
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| Marfan syndrome can also seriously affect the eyes and vision. [[myopia|Nearsightedness]] and [[astigmatism (eye)|astigmatism]] are common, but farsightedness can also result. <ref name="mayo-gen">{{Cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|accessdate=January 12 2007|dateformat=mdy|publisher=Mayo Clinic}}</ref>
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| [[Subluxation]] (dislocation) of the crystalline [[lens (anatomy)|lens]] in one or both eyes (''[[ectopia lentis]]'') (in 80% of patients) also occurs and may be detected by an [[ophthalmologist]] or [[optometrist]] using a [[Slit lamp|slit-lamp]] biomicroscope. <ref name="mayo-gen">{{Cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|accessdate=January 12 2007|dateformat=mdy|publisher=Mayo Clinic}}</ref>
| | * [http://marfanworld.org/ International Federation of Marfan Syndrome Organisations] |
| | | * [http://www.marfan.org/ National Marfan Foundation (USA)] |
| In Marfan's the dislocation is typically superotemporal whereas in the similar condition [[homocystinuria]], the dislocation is inferonasal.<ref name="mayo-gen">{{Cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|accessdate=January 12 2007|dateformat=mdy|publisher=Mayo Clinic}}</ref>
| | * [http://www.ncbi.nlm.nih.gov/disease/Marfan.html National Institute for Health Marfan syndrome page (USA)] |
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| Sometimes eye problems appear only after the weakening of connective tissue has caused [[retinal detachment|detachment of the retina]].<ref name="mayo-gen">{{Cite web|url=http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=2|title=Marfan Syndrome|accessdate=January 12 2007|dateformat=mdy|publisher=Mayo Clinic}}</ref> Early onset [[glaucoma]] can be another related problem.
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| ===Cardiovascular system===
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| The most serious conditions associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, [[heart palpitations]], [[tachycardia|racing heartbeats]], or [[Angina pectoris|pain in the left chest, back, shoulder, or arm]], can bring an individual into the doctor's office. A [[heart murmur]] heard on a [[stethoscope]], an abnormal reading on an [[electrocardiogram]], or symptoms of [[Angina pectoris|angina]] can lead a doctor to order an [[echocardiogram]]. This can reveal signs of leakage or [[prolapse]] of the mitral or aortic [[heart valve|valves]] that control the flow of blood through the heart. (See [[mitral valve prolapse]].) However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an [[aortic aneurysm]]. Sometimes, no heart problems are apparent until the weakening of the connective tissue in the [[aorta|ascending aorta]] causes an [[aortic aneurysm]] or even [[aortic dissection]].
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| Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.<ref name="Braunwald-2005">{{cite book | coauthors=Zipes, Libby Bonow Braunwald | title=Braunwald's Heart Disease ~ A Textbook of Cardiovascular Medicine, Seventh Edition | publisher=Elseview Saunders | date=2005 | location=United States of America | pages=1894 | id=ISBN 0-7216-0509-5}}</ref> Care should be taken to attempt repair of damaged heart valves rather than replacement.
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| During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of acute [[aortic dissection]], which can be lethal if untreated. For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and [[echocardiography]] should be performed every 6-10 weeks during pregnancy, to assess the aortic root diameter. Most women however tolerate pregnancy well and safe vaginal delivery is possible.<ref name="emed">{{Cite web|url=http://www.emedicine.com/ped/fulltopic/topic1372.htm#section~Miscellaneous|title=Marfan Syndrome, special concerns}}</ref>
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| *A typical aortic root in Marfan's syndrome.
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| <googlevideo>-760162053984535443&hl=en</googlevideo>
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| ===Lungs===
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| Marfan syndrome is a [[risk factor]] for spontaneous [[pneumothorax]]. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the [[pleural]] space between the chest wall and a [[lung]]. The lung becomes partially compressed or collapsed. This can cause pain, shortness of breath, [[cyanosis]], and, if not treated, death. Marfan syndrome has also been associated with [[sleep apnea]] and [[idiopathic]] obstructive lung disease.
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| ===Central nervous system===
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| Another condition that can reduce the quality of life for an individual, though not life-threatening, is [[dural ectasia]], the weakening of the connective tissue of the dural sac, the membrane that encases the [[spinal cord]].
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| Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower [[back pain]], leg pain, [[abdominal pain]], other neurological symptoms in the lower extremities, or [[headaches]]. Such symptoms usually diminish when the individual lies flat on his or her back.
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| These types of symptoms might lead a doctor to order an [[X-ray]] of the [[lumbar|lower spine]]. Dural ectasia is usually not visible on an X-ray in the early phases. A worsening of symptoms and the lack of finding any other cause should eventually lead a doctor to order an upright [[MRI]] of the lower spine.
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| Dural ectasia that has progressed to the point of causing these symptoms would appear in an upright MRI image as a dilated pouch that is wearing away at the [[lumbar vertebrae]].<ref name="mayo-gen" /> Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts.
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| ==Management==
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| There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades, and clinical trials are underway for a promising new treatment.<ref>Freeman, Elaine (2007) "[http://www.hopkinsmedicine.org/hmn/F07/feature1.cfm A Silver Bullet for Blake]", ''Johns Hopkins Magazine'', Fall, 2007.</ref> The syndrome is treated by addressing each issue as it arises, and, in particular, considering prophylactic medication, even for young children, to slow progression of aortic dilation.
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| Regular checkups by a [[cardiologist]] are needed to monitor the health of the heart valves and the aorta. The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating [[Cardiac arrhythmia|arrythmias]], minimizing the [[heart rate]], and minimizing [[blood pressure]].
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| [[Beta blocker]]s have been used to control [[Cardiac arrhythmia|arrythmias]] and slow the [[heart rate]]. Other medications might be needed to further minimize [[blood pressure]] without slowing the [[heart rate]], such as [[ACE inhibitors]] and [[angiotensin II receptor antagonist]]s, also known as angiontensin receptor blockers (ARBs).
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| If the dilation of the aorta progresses to a significant diameter [[aneurysm]], causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery (possibly a composite aortic valve graft [CAVG] or valve-sparing procedure) becomes necessary.
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| Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis. Surgery in the setting of acute aortic dissection or rupture is considerably more problematic. Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimetres, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.<ref name="mayo-heart">{{Cite web|url=http://www.mayoclinic.org/marfan-syndrome/heartsurgery.html|title=Heart Surgery for Marfan Syndrome|publisher=Mayo Clinic}}</ref> As Marfan patients live longer, other vascular repairs are becoming more common, e.g. repairs of descending thoractic aortic aneurysms and aneurysms of vessels other than the aorta.
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| The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. This can also affect height, arm length, and life span. The [[Nuss procedure]] is now being offered to people with Marfan syndrome to correct 'sunken chest' or ([[pectus excavatum]]).<ref name="chkd">{{Cite web|url=http://www.chkd.org/services/nussprocedure/Overview.aspx|title=Overview of the Nuss Procedure for Pectus Excavatum|publisher=Children's Hospital of The King's Daughters}}</ref> Because Marfan may cause spinal abnormalities that are asymptomatic, any spinal surgery contemplated on a Marfan patient should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery.
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| Clinical trials have been conducted of the drug [[acetazolamide]] in the treatment of symptoms of [[dural ectasia]]. The treatment has demonstrated significant functional improvements in some sufferers.<ref name="spine">{{Cite web|url=http://www.spineuniverse.com/displayarticle.php/article922.html|title=Dural Ectasia in the Marfan Spine: Symptoms and Treatment|publisher=Scoliosis Research Society}}</ref> Other medical treatments, as well as physical therapy, are also available.
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| Treatment of a spontaneous [[pneumothorax]] is dependant on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in 1 to 2 weeks. Recurrent pneumothoraxes might require chest surgery. Moderately sized pneumothoraxes might need [[Chest tube|chest drain]] management for several days in hospital. Large pneumothoraxes are likely to be medical emergencies requiring emergency decompression.
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| Research in laboratory mice has suggested that the [[angiotensin II receptor antagonist]] [[losartan]], which appears to block TGF-beta activity, can slow or halt the formation of aortic aneurysms in Marfan syndrome.<ref name="scimag">{{Cite journal | last = Habashi | first = Jennifer P. | coauthors = Daniel P. Judge, Tammy M. Holm, Ronald D. Cohn, Bart L. Loeys, Timothy K. Cooper, Loretha Myers, Erin C. Klein, Guosheng Liu, Carla Calvi, Megan Podowski, Enid R. Neptune, Marc K. Halushka, Djahida Bedja, Kathleen Gabrielson, Daniel B. Rifkin, Luca Carta, Francesco Ramirez, David L. Huso, and Harry C. Dietz | date = April 7, 2006 | title = Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome | volume = 312 | issue = 5770 | pages = 117 - 121 | doi = 10.1126/science.1124287 | url = http://www.sciencemag.org/cgi/content/full/312/5770/117 | abstract = http://www.sciencemag.org/cgi/content/abstract/sci;312/5770/117 | news = http://www.news-medical.net/?id=17249}}</ref> A large [[clinical trial]] sponsored by the [[National Institutes of Health]] comparing the effects of losartan and [[atenolol]] on the aortas of Marfan patients is scheduled to begin in early 2007, coordinated by Johns Hopkins.<ref name="trial">{{Cite web|url=http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=147&menu_item_id=91|title=Atenolol vs. Losartan in Individuals with Marfan Syndrome Clinial Trial|publisher=National Marfan Foundation}}</ref>
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| Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members.
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| ==References==
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| {{reflist|2}}
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| ==External links==
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| *[http://marfanworld.org/ International Federation of Marfan Syndrome Organisations] | |
| *[http://www.marfan.org/ National Marfan Foundation (USA)] | |
| *[http://www.marfan.org.za/diagnosis.html Marfan diagnosis criteria]
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| *[http://www.ncbi.nlm.nih.gov/disease/Marfan.html National Institute for Health Marfan syndrome page (USA)] | |
| *[http://www.medicinenet.com/marfan_syndrome/index.htm Marfan Syndrome Center at medicinenet.com]
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| *[http://marfansyndrome.researchtoday.net/ Marfan Syndrome Research] - recent literature on Marfan Syndrome
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| *[http://www.supportmarfan.com Marfan support]
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| *[http://www.marfan.ca/ Canadian Marfan Association]
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| *[http://www.marfan.org.uk/ Marfan Association UK]
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| *[http://www.marfan.org.mx/ Marfan de Mexico]
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| *[http://www.marfan.no/ Norwegian Marfan Organization]
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| *[http://www.marfanlife.net Marfan Life blog] - mostly links to news articles about Marfan Syndrome
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| *[http://www.marfansyndrome.info MarfanSyndrome.Info] - Findings in Marfan Syndrome and link collection
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| *[http://www.marfanlife.net/lists/ Marfan-List] - email discussion list for people and families with Marfan Syndrome
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| *[http://www.marfan.org.za/ South African Marfan Syndrome Organisation] - support group for Africa
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| *[http://www.medstudents.com.br/original/revisao/marfan/marfan.htm Eye Findings in Marfan's syndrome]
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| {{Phakomatoses and other congenital malformations not elsewhere classified}} | | {{Phakomatoses and other congenital malformations not elsewhere classified}} |
| {{SIB}}
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| [[Category:Cardiology]] | | [[Category:Cardiology]] |
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| [[Category:Genetic disorders]] | | [[Category:Genetic disorders]] |
| [[Category:Syndromes]] | | [[Category:Syndromes]] |
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| [[ar:متلازمة مارفان]]
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| [[de:Marfan-Syndrom]]
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| [[es:Síndrome de Marfan]]
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| [[fr:Syndrome de Marfan]]
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| [[ko:마르팡 증후군]]
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| [[it:Sindrome di Marfan]]
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| [[he:תסמונת מרפן]]
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| [[nl:Syndroom van Marfan]]
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| [[ja:マルファン症候群]]
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| [[nn:Marfans syndrom]]
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| [[pl:Zespół Marfana]]
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| [[pt:Síndrome de Marfan]]
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| [[ru:Синдром Марфана]]
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| [[sr:Марфанов синдром]]
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| [[fi:Marfanin oireyhtymä]]
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| [[sv:Marfans syndrom]]
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| [[uk:Синдром Марфана]]
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