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Marfan syndrome
Classification and external resources

Micrograph demonstrating myxomatous degeneration of the aortic valve - a common manifestation of Marfan syndrome.
ICD-10 Q87.4
ICD-9 759.82
OMIM 154700
DiseasesDB 7845
MedlinePlus 000418
eMedicine ped/1372 orthoped/414
MeSH D008382
.Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue.^ Marfan syndrome and fibrillin disorders.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Marfan syndrome is a disorder involving the body's connective tissue.

^ My daughter has Marfan's Syndrome Marfans syndrome is a connective tissue disorder.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.It is sometimes inherited as a dominant trait.^ It is sometimes inherited as a dominant trait.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ It is inherited as an autosomal dominant trait.
  • Marfan syndrome Symptoms, Diagnosis, Treatments and Causes - WrongDiagnosis.com 18 January 2010 13:32 UTC wrongdiagnosis.com [Source type: Academic]

^ Evidence indicates that the condition is sometimes familial, suggesting autosomal dominant inheritance.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.[1][2] People have a pair of FBN1 genes.^ People have a pair of FBN1 genes.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ This gene is called fibrillin-1 or FBN1.

^ This is known as the fibrillin - 1 gene, or FBN1 for short.
  • http://www.bbc.co.uk/dna/h2g2/A3065140 18 January 2010 13:32 UTC www.bbc.co.uk [Source type: FILTERED WITH BAYES]

.Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's.^ Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder.

^ Approximately one in 10 people with Marfan syndrome are severely affected.
  • Marfan syndrome information from NHS Choices on TheFamilyGP.com 18 January 2010 13:32 UTC health.virginmedia.com [Source type: General]

^ Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfans.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.This syndrome can run from mild to severe.^ This syndrome can run from mild to severe.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Many individuals with Marfan syndrome develop spinal abnormalities such as progressive curving of the spine (scoliosis) that may be mild or severe.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Signs and symptoms of Marfan syndrome can be mild or severe.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

.People with Marfan's are typically tall, with long limbs and long thin fingers.^ People with Marfan syndrome are usually tall and thin, with disproportionately long arms, legs, fingers and toes.

^ People with Marfan syndrome are usually very tall and thin.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ People with Marfan syndrome are often very tall and thin.

.The most serious complications are the defects of the heart valves and aorta.^ Surgery to repair or replace a defective heart valve or aorta .
  • Marfan Syndrome | Lifescript.com 18 January 2010 13:32 UTC www.lifescript.com [Source type: General]

^ The most serious complication of Marfan syndrome involves the heart .
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ Marfan Syndrome have problems with the heart - eg with valves of the heart, the aorta (main blood vessel from the heart) which can be dilated, and with the rhythm of the heart.
  • Parenting and Child Health - Health Topics - Marfan Syndrome 18 January 2010 13:32 UTC www.cyh.com [Source type: FILTERED WITH BAYES]

.It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.^ The disorder may also affect numerous other structures and organs — including the lungs , eyes, dural sac surrounding the spinal cord , and hard palate .
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Some affected individuals may develop widening or bulging of the sac (dura) that surrounds the spinal cord (dural ectasia).
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β).^ The connective tissues help to provide support and structure to other tissue and organs.
  • Marfan syndrome information from NHS Choices on TheFamilyGP.com 18 January 2010 13:32 UTC health.virginmedia.com [Source type: General]
  • Patient information leaflet - Marfan syndrome 18 January 2010 13:32 UTC www.cks.nhs.uk [Source type: General]
  • NHS Direct Wales - Encyclopaedia : Marfan syndrome 18 January 2010 13:32 UTC www.nhsdirect.wales.nhs.uk [Source type: FILTERED WITH BAYES]

^ Connective tissue is normally strong and resilient.
  • Marfan syndrome information from NHS Choices on TheFamilyGP.com 18 January 2010 13:32 UTC health.virginmedia.com [Source type: General]
  • Patient information leaflet - Marfan syndrome 18 January 2010 13:32 UTC www.cks.nhs.uk [Source type: General]
  • NHS Direct Wales - Encyclopaedia : Marfan syndrome 18 January 2010 13:32 UTC www.nhsdirect.wales.nhs.uk [Source type: FILTERED WITH BAYES]

^ A protein called fibrillin is one of the main components of connective tissue.
  • Living with Marfan's syndrome, a connective tissue disorder that often affects the heart 18 January 2010 13:32 UTC www.allina.com [Source type: FILTERED WITH BAYES]

[2] .TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix.^ Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome.
  • Marfan Syndrome and Related Disorders -- Pyeritz 86 (1): 335 -- The Annals of Thoracic Surgery 18 January 2010 13:32 UTC ats.ctsnetjournals.org [Source type: Academic]

^ The multifunctional receptor LRP1 controls expression, activity and trafficking of the PDGF receptor-β in vascular smooth muscle cells (VSMC).
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

.Researchers now believe that secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.^ Marfan syndrome and fibrillin disorders.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Heart - The heart's valves, especially the mitral valve, can be affected by Marfan syndrome.
  • Aorta Disease and Marfan Syndrome 18 January 2010 13:32 UTC www.metrohealth.org [Source type: General]
  • Aorta Disease and Marfan Syndrome 18 January 2010 13:32 UTC www.metrohealth.org [Source type: FILTERED WITH BAYES]

^ Cardiomyopathy: With Marfan syndrome, the heart muscle may enlarge and weaken over time, causing cardiomyopathy .

[3] .Since angiotensin II receptor blockers (ARBs) also reduce TGF-β, they have tested this by giving ARBs (losartan, etc.^ Losartan, an angiotensin II type 1 receptor blocker, can also decrease TGFβ signaling.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Marfan syndrome.Robbins and Cotran Pathological Basis of Disease, Kumar et al; 8th Edition, Saunders Elsevier Publishing, 2010 Since angiotensin II receptor blockers (ARBs) also reduce TGF-?, they have tested this by giving ARBs (losartan, etc.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ 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.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

) to a small sample of young, severely affected .Marfan syndrome patients.^ Photograph of the hands of a patient with Marfan syndrome.
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

^ Patient Surveys for Marfan syndrome .
  • Marfan syndrome Symptoms, Diagnosis, Treatments and Causes - WrongDiagnosis.com 18 January 2010 13:32 UTC wrongdiagnosis.com [Source type: Academic]

^ Assessment of a patient with possible Marfan syndrome .
  • Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart 18 January 2010 13:32 UTC heart.bmj.com [Source type: Academic]

.In some patients, the growth of the aorta was indeed reduced.^ In some patients, the growth of the aorta was indeed reduced.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

[4]
.It is named after Antoine Marfan,[5] the French pediatrician who first described the condition in 1896 after noticing striking features in a 5-year-old girl.^ The diagnostic criteria have been refined since the condition was first described in a 5-year-old girl in 1896 by Antoine Bernard-Jean Marfan, a French professor of pediatrics.
  • Marfan Syndrome Is Not Associated With Intracranial Aneurysms -- Conway et al. 30 (8): 1632 -- Stroke 18 January 2010 13:32 UTC stroke.ahajournals.org [Source type: Academic]

^ Named for the French pediatrician who first described it in 1896, Marfan syndrome may affect males or females of any ethnic origin.
  • Related Heart Conditions - Marfan Syndrome 18 January 2010 13:32 UTC drgreene.healthology.com [Source type: FILTERED WITH BAYES]

^ I also have a Marfan sister and 2 year old daughter with Marfan's.
  • Marfan Syndrome Explained 18 January 2010 13:32 UTC www.articlesbase.com [Source type: FILTERED WITH BAYES]

[6][7] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.[8]

Contents

Symptoms

.Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, dislocated lenses, and aortic root dilation is sufficient to make the diagnosis with confidence.^ Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndrome.
  • Marfan Syndrome and Related Disorders -- Pyeritz 86 (1): 335 -- The Annals of Thoracic Surgery 18 January 2010 13:32 UTC ats.ctsnetjournals.org [Source type: Academic]

^ There's no single test for diagnosing Marfan syndrome.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ The symptoms of Marfan syndrome vary from person to person.
  • Marfan syndrome information from NHS Choices on TheFamilyGP.com 18 January 2010 13:32 UTC health.virginmedia.com [Source type: General]
  • Patient information leaflet - Marfan syndrome 18 January 2010 13:32 UTC www.cks.nhs.uk [Source type: General]
  • NHS Direct Wales - Encyclopaedia : Marfan syndrome 18 January 2010 13:32 UTC www.nhsdirect.wales.nhs.uk [Source type: FILTERED WITH BAYES]

.There are more than 30 other clinical features that are variably associated with the syndrome, most involving the skeleton, skin, and joints.^ There are more than thirty other clinical features that are variably associated with the syndrome most involving the skeleton, skin, and joints.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Neonatal presentation is associated with a more severe course than that associated with other presentations.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

^ Children with Marfan syndrome need to play and laugh and learn that there's so much more they can do than they can't.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

.There is a great deal of clinical variability even within families that carry the identical mutation.^ There is a great deal of clinical variability even within families that carry the identical mutation.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ This variability can occur even within one family.
  • Marfan Syndrome Explained 18 January 2010 13:32 UTC www.articlesbase.com [Source type: FILTERED WITH BAYES]

^ This term means that the mutated fibrillin gene can produce a variety of symptoms of very different degrees of severity, even in members of the same family.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

Skeletal system

.Most of the readily visible signs are associated with the skeletal system.^ The most readily visible signs are associated with the skeletal system.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ Example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

.Many individuals with Marfan syndrome grow to above average height.^ In most cases, Marfan syndrome progresses as individuals grow older.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Many individuals with Marfan Syndrome grow to above average height.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Treatment The treatment of Marfan syndrome is directed toward the specific symptoms that are apparent in each individual.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.Some have long slender limbs with long fingers and toes (arachnodactyly).^ Arachnodactyly —A condition characterized by abnormally long and slender fingers and toes.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ They also usually have long fingers and toes.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Long limbs, fingers, and toes, including armspan exceeding height.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

This condition of elongated limbs is known as dolichostenomelia. .An individual's arms may be disproportionately long, with thin, weak wrists.^ An individual's arms may be disproportionately long, with thin, weak wrists.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Note tall and thin build, disproportionately long arms and legs, and kyphoscoliosis.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

^ Individuals with Marfan syndrome often develop distinct physical findings especially an abnormally thin physique and disproportionately long, slender arms and legs (dolichostenomelia) due to overgrowth of the long bones.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal anomalies.^ Other signs of Marfan Syndrome .

^ Who is affected by Marfan syndrome?

^ In addition to excessive height and long limbs, Marfan syndrome may cause other skeletal problems, such as scoliosis (curvature of the spine) and chest wall abnormalities (the chest bone may either curve in or protrude out, giving the chest a sunken-in or a pigeon-breasted appearance).
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

.Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum.^ Scoliosis —An abnormal, side-to-side curvature of the spine.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ Pectus carinatum —An abnormality of the chest in which the sternum (breastbone) is pushed outward.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ Pectus excavatum and pectus carinatum can be treated by surgery.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

.Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, hammer toes, stooped shoulders, unexplained stretch marks on the skin.^ Other signs include abnormal joint flexibility, a high palate , malocclusions, flat feet, stooped shoulders, unexplained stretch marks on the skin and thin wrists.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Common findings include those related to abnormalities in connective tissues, such as abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers.

^ Minor criteria include the following: Striae atrophicae in the absence of marked weight changes, pregnancy, or repetitive stress: Stretch marks are usually found on the shoulder, mid back, and thighs.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

.It can also cause pain in the joints, bones and muscles in some patients.^ Activities that cause joint injury or pain .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Think of it as a sort of "glue" that helps support every organ, blood vessel, bone, joint, and muscle.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ In some cases, a dissection does not cause dramatic pain.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

.Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws.^ Some people with Marfans have speech disorders resulting from symptomatic high palates and small jaws.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Some childhood aneurysms are caused by Marfan’s Syndrome , a genetic disorder that has a definite look to it — tall and thin (think Abraham Lincoln; there is some speculation that he had Marfan’s).
  • Polite Dissent » Search Results » marfan 18 January 2010 13:32 UTC politedissent.com [Source type: FILTERED WITH BAYES]

^ They may share some facial characteristics, too, including a long, thin face; deep-set eyes; a small jaw; a high, arched roof of the mouth; and crowded teeth.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

.Early osteoarthritis may occur.^ This early intervention may abate the inevitable loss of motion and the future pain of osteoarthritis in these carefully selected patients with Marfan syndrome.
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

Eyes

Lens dislocation in Marfan's syndrome, the lens was kidney-shaped and was resting against the ciliary body.
.Marfan syndrome can also seriously affect the eyes and vision.^ How does Marfan syndrome affect the eyes?

^ Marfan syndrome does not affect intelligence.

^ How are individuals with Marfan syndrome affected?
  • Marfan UK-Marfan syndrome fact sheet 20 September 2009 17:28 UTC myweb.tiscali.co.uk [Source type: Academic]
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

.Nearsightedness and astigmatism are common, but farsightedness can also result.^ Nearsightedness and astigmatism are common, but farsightedness can also result.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

.Subluxation (dislocation) of the crystalline 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 biomicroscope.^ Lens dislocation into the anterior chamber may occur.
  • European Journal of Human Genetics - Marfan syndrome: clinical diagnosis and management 20 September 2009 17:28 UTC www.nature.com [Source type: Academic]

^ Ectopia lentis —Dislocation of the lens of the eye.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ About 50% of patients have lens dislocation.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

.In Marfan's the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal.^ This can be differentiated from the similar condition homocystinuria , where the dislocation is inferonasal; in Marfan's the dislocation is superotemporal.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ More than half of all people with Marfan syndrome have a condition known as "dislocated lenses."
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ Dislocation of the lens of the eye is a hallmark of Marfan syndrome that occurs in very few other conditions.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

.Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.^ Marfan's syndrome is an autosomal dominant pathology of the connective tissues caused by mutations of the fibrillin gene located in chromosome 15q.
  • Stent Grafting of Dissected Descending Aorta in Patients With Marfan's Syndrome: Mid-Term Results -- Marcheix et al. 1 (6): 673 -- Journal of the American College of Cardiology: Cardiovascular Interventions 18 January 2010 13:32 UTC interventions.onlinejacc.org [Source type: Academic]

^ People with Marfan syndrome also often have myopia (nearsightedness), and they are at greater risk for developing other problems — like detached retinas (when the light-sensing tissue at the back of the eye comes loose), glaucoma (high pressure in the eye), or cataracts (cloudy lenses) — earlier in life than other people.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ The doctor uses a microscope with an adjustable light source to check the eyes for lens dislocation, nearsightedness, cataracts, or a detached retina.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

[9] .Early onset glaucoma can be another related problem.^ Early treatment for cataracts and glaucoma usually can prevent or lessen vision problems.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]

Cardiovascular system

.The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system.^ This is the most serious potential complication of Marfan syndrome.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

^ Cardiovascular complications The most dangerous complications of Marfan syndrome involve the heart and blood vessels.
  • OhioHealth - Marfan syndrome 18 January 2010 13:32 UTC www.ohiohealth.com [Source type: General]
  • Marfan syndrome - Valley Health System 18 January 2010 13:32 UTC www.valleyhealth.com [Source type: General]

^ Signs and symptoms of Marfan syndrome can be mild or severe.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]

.Undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or Angina pectoris with pain radiating to the back, shoulder, or arm.^ Shortness of breath and fatigue (tiredness).
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, dizziness, and/or other symptoms and signs.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ A weakened and enlarged aorta may allow some blood to leak back into the heart during each heartbeat; this condition is called aortic regurgitation.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

.Cold arms, hands and feet can also be linked to Marfan's syndrome because of inadequate circulation.^ Photograph of the hands of a patient with Marfan syndrome.
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

^ "Marfan syndrome linked to gene".
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height.
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

.A heart murmur, abnormal reading on an EKG, or symptoms of angina can indicate further investigation.^ However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, dizziness, and/or other symptoms and signs.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ A minor leak may cause few symptoms, but a large one can cause shortness of breath and an irregular heartbeat, as well as a heart murmur.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ Marfan syndrome may also affect the function of other heart valves and give rise to symptoms for which valve surgery may be indicated in children and adults.
  • Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart 18 January 2010 13:32 UTC heart.bmj.com [Source type: Academic]

.The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves which is commonly associated with Marfan's syndrome (see mitral valve prolapse, aortic regurgitation).^ As a result, the mitral and aortic valves are put under a lot of stress.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

^ Surgery may be needed if a person with Marfan syndrome has mitral valve prolapse or if the valve is leaking (mitral regurgitation).
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Mitral valve prolapse .
  • Marfan syndrome - Definition, Description, Causes and symptoms, Diagnosis, Treatment, Prognosis 20 September 2009 17:28 UTC health.stateuniversity.com [Source type: Academic]

.However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm.^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

^ The aortic disease observed is similar to that observed in the Marfan syndrome and includes dilatation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ However, aneurysmal dilatation of the descending aorta is a frequent critical late complication responsible for poor long-term outcomes ( 1,2 ).
  • Stent Grafting of Dissected Descending Aorta in Patients With Marfan's Syndrome: Mid-Term Results -- Marcheix et al. 1 (6): 673 -- Journal of the American College of Cardiology: Cardiovascular Interventions 18 January 2010 13:32 UTC interventions.onlinejacc.org [Source type: Academic]

.Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency.^ Familial aortic dissecting aneurysms.
  • Marfan Syndrome and Related Disorders -- Pyeritz 86 (1): 335 -- The Annals of Thoracic Surgery 18 January 2010 13:32 UTC ats.ctsnetjournals.org [Source type: Academic]

^ An aortic dissection is a life-threatening emergency.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ When weak connective tissue causes the walls of the aorta to weaken, the aorta widens and stretches.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

.An aortic dissection is most often fatal and presents with pain radiating down the back, giving a tearing sensation.^ Aortic dissection can often masquerade as other ailments -- a heart attack, an infection, a stroke, an inflammation of the lining of the heart.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

^ MRI can show aortic dissection and aneurysm, and it can be used on the lower back to detect dural ectasia.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ It's not like being incapacitated by back pain is entirely unfamiliar to me, but I figured that it would be my luck to experience a dissection a week before I'm going to be evaluated for Marfan.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

.Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.^ My daughter has Marfan's Syndrome Marfans syndrome is a connective tissue disorder.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Marfans syndrome is a connective tissue disorder.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Marfan's syndrome is a connective tissue disorder that often affects the heart.
  • Living with Marfan's syndrome, a connective tissue disorder that often affects the heart 18 January 2010 13:32 UTC www.allina.com [Source type: FILTERED WITH BAYES]

[10] .Care should be taken to attempt repair of damaged heart valves rather than replacement.^ Valvuloplasty is open-heart surgery to repair the damaged valve.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Valve replacement is open-heart surgery.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Most often the mitral valve can be repaired, rather than replaced.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated.^ Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome.
  • Management of Marfan syndrome -- Dean 88 (1): 97 -- Heart 18 January 2010 13:32 UTC heart.bmj.com [Source type: Academic]

^ What are the latest advances in treating Marfan Syndrome?
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

^ Pregnant women with Marfan syndrome are considered high risk cases.

.For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and echocardiography should be performed every six to ten weeks during pregnancy, to assess the aortic root diameter.^ Pregnancy: Genetic counseling should be performed prior to pregnancy as Marfan syndrome is an inherited condition.

^ Is pregnancy risky for women with Marfan syndrome?
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ Pregnancy can be dangerous for women with Marfan syndrome, especially if the aortic root exceeds 4.0 cm.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.For most women, safe vaginal delivery is possible.^ Most women with Marfan syndrome can have a vaginal delivery.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

[11]

Lungs

.Marfan syndrome is a risk factor for spontaneous pneumothorax.^ People with Marfan syndrome are also at higher risk of: .
  • OhioHealth - Marfan syndrome 18 January 2010 13:32 UTC www.ohiohealth.com [Source type: General]

^ Aortic dissection occurs in around 4.5% of pregnancies in women with Marfan syndrome 69 and the risk is greater if the aortic root exceeds 4 cm at the start of pregnancy, or if it dilates rapidly.
  • European Journal of Human Genetics - Marfan syndrome: clinical diagnosis and management 20 September 2009 17:28 UTC www.nature.com [Source type: Academic]

^ Legget ME, Unger TA, O'Sullivan CK et al : Aortic root complications in Marfan's syndrome: identification of a lower risk group.
  • European Journal of Human Genetics - Marfan syndrome: clinical diagnosis and management 20 September 2009 17:28 UTC www.nature.com [Source type: Academic]

.In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the pleural space between the chest wall and a lung.^ Sudden collapse of the lung, called spontaneous pneumothorax can occur in people with Marfan syndrome.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Breathing problems may result from skeletal abnormalities that do not allow the chest to fully expand or from sudden collapse of the lungs (called spontaneous pneumothorax).
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]

^ Lung bullae can develop, especially of the upper lobes, and can predispose to spontaneous pneumothorax.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.The lung becomes partially compressed or collapsed.^ The lung becomes partially compressed or collapsed.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ A collapsed lung if the air sacs become stretched or swollen.
  • Fast Facts about Marfan Syndrome 18 January 2010 13:32 UTC www.niams.nih.gov [Source type: FILTERED WITH BAYES]

^ If, however, these tiny air sacs become stretched or swollen, the risk of lung collapse may increase.
  • Questions and Answers about Marfan Syndrome 18 January 2010 13:32 UTC www.niams.nih.gov [Source type: Academic]
  • Questions and Answers About Marfan Syndrome 18 January 2010 13:32 UTC www.kidneeds.com [Source type: Academic]
  • Marfan Syndrome 18 January 2010 13:32 UTC www.medic8.com [Source type: FILTERED WITH BAYES]

.This can cause pain, shortness of breath, cyanosis, and, if not treated, death.^ Collapsed lung usually causes sudden shortness of breath and requires immediate medical attention.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ A minor leak may cause few symptoms, but a large one can cause shortness of breath and an irregular heartbeat, as well as a heart murmur.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ Defects of the mitral valve may cause shortness of breath, an irregular pulse, and undue tiredness.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.Marfan syndrome has also been associated with sleep apnea and idiopathic obstructive lung disease.^ Emphysema Chronic obstructive pulmonary disease Collapsed lung Sleep apnea Complications of pregnancy Women with Marfan syndrome face possible complications during pregnancy.
  • Marfan syndrome - Valley Health System 18 January 2010 13:32 UTC www.valleyhealth.com [Source type: General]

^ Most of the problems associated with Marfan syndrome can be managed effectively, as long as they are diagnosed early.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ The aortic disease observed is similar to that observed in the Marfan syndrome and includes dilatation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

Central nervous system

.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.^ Another problem that can occur is dural ectasia, which is the stretching of the membrane surrounding the brain and spinal cord.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Dural ectasia is an expansion of the sac that surrounds the lower part of the spinal cord.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.Dural ectasia can be present for a long time without producing any noticeable symptoms.^ Dural ectasia can sometimes present a problem.
  • Marfan Syndrome - Useful Information about Marfan Syndrome 20 September 2009 17:28 UTC www.marfan.ie [Source type: Academic]

^ Dural ectasia can be present for a long time without producing any noticeable symptoms.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ 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 .
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

.Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches.^ However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, dizziness, and/or other symptoms and signs.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Dural ectasia most frequently occurs in the lumbosacral spine The most common clinical symptoms are low back pain, headache, weakness, and loss of sensation above and below the affected limb, occasional rectal pain and pain in the genital area.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

^ Symptoms include low back pain, proximal leg pain, weakness and numbness above and below the knees, and genital/rectal pain.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.Such symptoms usually diminish when the individual lies flat on his or her back.^ Such symptoms usually diminish when the individual lies flat on his or her back.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Knee pain is usually the presenting symptom that occurs during activities such as running, jumping, squatting, and especially ascending or descending stairs and during kneeling.
  • Marfan Syndrome Explained 18 January 2010 13:32 UTC www.articlesbase.com [Source type: FILTERED WITH BAYES]

^ This condition usually does not cause symptoms (asymptomatic), but has been associated with lower back pain.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

These types of symptoms might lead a doctor to order an X-ray of the lower spine. .Dural ectasia is usually not visible on an X-ray in the early phases.^ Dural ectasia is usually asymptomatic.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Dural ectasia is usually not visible on an X-ray in the early phases.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]

^ Dural ectasia, a usually asymptomatic enlargement of the neural canal that is nearly always found in the lumbosacral region, is a common feature of Marfan syndrome 24 .
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

.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.^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

^ Some individuals prefer use of arch supports, while others find them irritating; the choice should be left to personal preference.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ House thinks the symptoms relate to her head, so he orders a brain MRI. He also has Chase evaluate the husband to see if shares any symptoms.
  • Polite Dissent » Search Results » marfan 18 January 2010 13:32 UTC politedissent.com [Source type: FILTERED WITH BAYES]

.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.^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

^ MRI can show aortic dissection and aneurysm, and it can be used on the lower back to detect dural ectasia.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Medications known as beta blockers work to lower blood pressure and reduce wear and tear on the blood vessels, and can often delay the progression of aortic dilation.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

[9] .Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts.^ Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Other heart problems that can affect people with Marfan syndrome include a higher risk of heart attack , an abnormal heart rhythm (called arrhythmia ), and sudden cardiac death.

^ The aortic disease observed is similar to that observed in the Marfan syndrome and includes dilatation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.Marfan syndrome is also associated with dysautonomia.^ Most of the problems associated with Marfan syndrome can be managed effectively, as long as they are diagnosed early.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]

^ We have drawn on our pathological and clinical experience with Marfan syndrome to analyze the purported association between Marfan syndrome and intracranial aneurysms.
  • Marfan Syndrome Is Not Associated With Intracranial Aneurysms -- Conway et al. 30 (8): 1632 -- Stroke 18 January 2010 13:32 UTC stroke.ahajournals.org [Source type: Academic]

^ Shprintzen-Goldberg syndrome – associates many skeletal findings of Marfan syndrome with ocular hypertelorism, craniosynostosis, other craniofacial abnormalities and cognitive impairment.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

Pathogenesis

.Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15,[12] which encodes a glycoprotein called fibrillin-1, a component of the extracellular matrix.^ Marfan syndrome and fibrillin disorders.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue.

^ Mutations of FBN1 in Marfan syndrome are known usually to be private.
  • Arch Ophthalmol -- Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome, February 2006, Ganesh et al. 124 (2): 205 18 January 2010 13:32 UTC archopht.highwire.org [Source type: Academic]

.The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers.^ Histologic examination reveals fragmentation of elastic fibers, loss of elastin content, and accumulation of amorphous matrix components in the aortic media.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ MFS is caused by loss of function mutations in fibrillin-1, a microfibrillar protein that coats the surface of elastic fibers where it binds and immobilizes the TGFβ large latency complex (LLC) [6] .
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Fibrillin-1 is a component of structures called microfibrils, which are fiber-like structures that are part of the extracellular matrix, a complex material that surrounds and supports cells throughout the body.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.The extracellular matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors.^ A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body.

^ The protein that this gene creates (encodes) serves as a binding site at the cell surface (receptor) for a molecule called transforming growth factor beta (TGFbeta).
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen).
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

[13] .Elastin fibers are found throughout the body but are particularly abundant in the aorta, ligaments and the ciliary zonules of the eye; consequently, these areas are among the worst affected.^ Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the heart, blood vessels, bones, eyes, lungs and skin.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ But more strenuous activities may be dangerous, increasing the risk of damage to your aorta, eyes, and ligaments.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Fibrillin-1 is a component of structures called microfibrils, which are fiber-like structures that are part of the extracellular matrix, a complex material that surrounds and supports cells throughout the body.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.A transgenic mouse has been created carrying a single copy of a mutant fibrillin 1, a mutation similar to that found in the human fibrillin 1 gene that is known to cause Marfan syndrome.^ Marfan syndrome and fibrillin disorders.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Marfan syndrome is caused by mutations (changes) in one member of a pair of genes called the fibrillin genes.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ Mutations of FBN1 in Marfan syndrome are known usually to be private.
  • Arch Ophthalmol -- Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome, February 2006, Ganesh et al. 124 (2): 205 18 January 2010 13:32 UTC archopht.highwire.org [Source type: Academic]

This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. .Reducing the level of normal fibrillin-1 causes a Marfan-related disease in mice.^ Marfan's syndrome is an autosomal dominant pathology of the connective tissues caused by mutations of the fibrillin gene located in chromosome 15q.
  • Stent Grafting of Dissected Descending Aorta in Patients With Marfan's Syndrome: Mid-Term Results -- Marcheix et al. 1 (6): 673 -- Journal of the American College of Cardiology: Cardiovascular Interventions 18 January 2010 13:32 UTC interventions.onlinejacc.org [Source type: Academic]

^ DNA and the Genesis of Marfan Syndrome -- so what causes it, at the molecular level?
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

^ The aortic disease observed is similar to that observed in the Marfan syndrome and includes dilatation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

[14]
.Transforming growth factor beta (TGFβ) plays an important role in Marfan syndrome.^ Fibrillin 1 also plays an important role in controlling the growth and development of the body.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ The protein that this gene creates (encodes) serves as a binding site at the cell surface (receptor) for a molecule called transforming growth factor beta (TGFbeta).
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-?
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.Fibrillin-1 indirectly binds a latent form of TGFβ keeping it sequestered and unable to exert its biological activity.^ Furthermore, TSP1, another ligand for LRP1 and a TGFβ target gene [23] , directly mediates the conversion of latent TGFβ to the active form [24] , [25] and TSP1 binding to an LRP1/calreticulin complex regulates cell adhesion [26] .
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Haploinsufficiency of fibrillin-1 [7] , [8] markedly changes the extracellular targeting, sequestration and turnover of latent TGFβ, resulting in pronounced activation of the growth factor and the signaling pathway [4] , [5] , [9] .
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

.The simplest model of Marfan syndrome suggests that reduced levels of fibrillin-1 allow TGFβ levels to rise due to inadequate sequestration.^ Marfan syndrome and fibrillin disorders.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Conjunctival fibrillin-1 has not been studied in Marfan syndrome.
  • Arch Ophthalmol -- Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome, February 2006, Ganesh et al. 124 (2): 205 18 January 2010 13:32 UTC archopht.highwire.org [Source type: Academic]

^ Marfan's syndrome is an autosomal dominant pathology of the connective tissues caused by mutations of the fibrillin gene located in chromosome 15q.
  • Stent Grafting of Dissected Descending Aorta in Patients With Marfan's Syndrome: Mid-Term Results -- Marcheix et al. 1 (6): 673 -- Journal of the American College of Cardiology: Cardiovascular Interventions 18 January 2010 13:32 UTC interventions.onlinejacc.org [Source type: Academic]

.Although it is not proven how elevated TGFβ levels are responsible for the specific pathology seen with the disease, an inflammatory reaction releasing proteases that slowly degrade the elastin fibers and other components of the extracellular matrix is known to occur.^ Histologic examination reveals fragmentation of elastic fibers, loss of elastin content, and accumulation of amorphous matrix components in the aortic media.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Moreover, induction of PDGF as well as PDGFRβ expression in response to TGFβ stimulation has been recognized as an important component of epithelial-mesenchymal transition, a process that underlies metastasis of some tumors [20] and increases the aggressiveness of others [21] .
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Fibrillin-1 is a component of structures called microfibrils, which are fiber-like structures that are part of the extracellular matrix, a complex material that surrounds and supports cells throughout the body.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

.The importance of the TGFβ pathway was confirmed with the discovery of a similar syndrome Loeys-Dietz syndrome involving the TGFβR2 gene on chromosome 3, a receptor protein of TGFβ.^ Loeys-Dietz syndrome .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Marfan's syndrome is an autosomal dominant pathology of the connective tissues caused by mutations of the fibrillin gene located in chromosome 15q.
  • Stent Grafting of Dissected Descending Aorta in Patients With Marfan's Syndrome: Mid-Term Results -- Marcheix et al. 1 (6): 673 -- Journal of the American College of Cardiology: Cardiovascular Interventions 18 January 2010 13:32 UTC interventions.onlinejacc.org [Source type: Academic]

^ A phenotypically similar Marfan-like syndrome is caused by loss of function mutations in TGFβ receptors 1 or 2 [10] – [12] , which nevertheless result in a paradoxical activation of the pathway and nuclear accumulation of pSmad2 [10] .
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

[15] .Marfan syndrome has often been confused with Loeys-Dietz syndrome, because of the considerable clinical overlap between the two syndromes.^ Loeys-Dietz syndrome is a rare disorder characterized by a variety of symptoms that overlap with Marfan syndrome.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

^ Loeys-Dietz syndrome .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Marfan syndrome is based on a clinical diagnosis.

[16]

Diagnosis

.Diagnostic criteria of Marfan syndrome were agreed internationally in 1996.[17] A diagnosis of Marfan syndrome is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual.^ The diagnosis of Stickler syndrome is clinically based.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ It also occurs in people who do not have Marfan syndrome.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome.
  • Marfan syndrome - Valley Health System 18 January 2010 13:32 UTC www.valleyhealth.com [Source type: General]

.For example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual.^ The cardinal features of MFS involve the ocular, cardiovascular, and skeletal systems.
  • 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 -- Faivre et al. 123 (1): 391 -- Pediatrics 18 January 2010 13:32 UTC pediatrics.aappublications.org [Source type: Academic]

^ Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

.The following conditions may result from Marfan syndrome but may also occur in people without any known underlying disorder.^ It also occurs in people who do not have Marfan syndrome.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Marfans syndrome is a connective tissue disorder.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Marfan syndrome features may include: .
  • Marfan syndrome - Valley Health System 18 January 2010 13:32 UTC www.valleyhealth.com [Source type: General]


Differential diagnosis

The following disorders have similar signs and symptoms of Marfan syndrome:

Management

.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.^ There's no single test for diagnosing Marfan syndrome.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

^ At present, there is no way to prevent Marfan syndrome.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: Academic]
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ Currently, Marfan syndrome has no cure.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

[28] .The syndrome is treated by addressing each issue as it arises, and, in particular, considering preventive medication, even for young children, to slow progression of aortic dilation.^ Aortic dilatation in the Marfan syndrome tends to progress over time.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Some people with Marfan take preventative medication to slow the progression of aortic dilation.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

.Regular checkups by a cardiologist are needed to monitor the health of the heart valves and the aorta.^ Because these heart conditions may not produce any obvious symptoms, those with Marfan's syndrome must have regular checkups by a cardiologist to monitor the effects of treatment and to detect possible complications.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Affected individuals need to have a series of echocardiograms (called serial echocardiograms) to measure the dimensions of the aorta and check the condition of the heart valves.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ A weak and rupture-prone aorta and suboptimal heart valves.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

.The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating arrythmias, minimizing the heart rate, and minimizing blood pressure.^ The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating arrythmias, minimizing the heart rate, and minimizing blood pressure.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]

^ Beta blockers have been used to control arrythmias and slow the heart rate.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]

^ The aortic and mitral valves of the heart can also be affected.
  • http://www.bbc.co.uk/dna/h2g2/A3065140 18 January 2010 13:32 UTC www.bbc.co.uk [Source type: FILTERED WITH BAYES]

.Beta blockers have been used to control arrythmias and slow the heart rate.^ Beta blockers are often used to: .
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ But the prescription of beta blockers (medications to slow the heartbeat) and the use of new techniques for aortic and cardiac reconstruction mean that the lifespan for many people affected (not afflicted ) by Marfan Syndrome is around 70 nowdays.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

^ A beta-blocker improves the heart’s ability to relax, decreases the forcefulness of the heartbeat and the pressure within the arteries, thereby preventing or slowing the enlargement of the aorta.

.Other medications might be needed to further minimize blood pressure without slowing the heart rate, such as ACE inhibitors and angiotensin II receptor antagonists, also known as angiontensin receptor blockers (ARBs).^ An angiotensin receptor blocker (ARB) is a type of medication that acts on a chemical pathway in the body.

^ Marfan syndrome.Robbins and Cotran Pathological Basis of Disease, Kumar et al; 8th Edition, Saunders Elsevier Publishing, 2010 Since angiotensin II receptor blockers (ARBs) also reduce TGF-?, they have tested this by giving ARBs (losartan, etc.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

^ Current research on a group of medications called ACE inhibitors appears extremely promising and is likely to further improve the health of people with Marfan syndrome.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

.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.^ All portions of the aorta can dilate or dissect.

^ Similar to composite valve-graft surgery, valve-sparing surgery is an open-heart procedure.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Aortic root dilation: The aortic root is the area where the aorta meets the aortic valve.

.Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.^ Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Elective aortic valve/graft surgery is usually considered when aortic dilation reaches 50 millimetres, but each case needs to be specifically evaluated by a qualified cardiologist.
  • What is Marfan Syndrome? - Yahoo! Answers 18 January 2010 13:32 UTC answers.yahoo.com [Source type: General]

^ Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimeters, but each case needs to be specifically evaluated by a qualified cardiologist.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

[29] .Surgery in the setting of acute aortic dissection or rupture is considerably more problematic.^ Surgery in the setting of acute aortic dissection or rupture is considerably more problematic.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ 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.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

.Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimeters (2.0 inches), but each case needs to be specifically evaluated by a qualified cardiologist.^ Aortic valve-sparing surgery.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Composite valve-graft aortic replacement surgery.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

.New valve-sparing surgical techniques are becoming more common.^ New valve-sparing surgical techniques are becoming more common.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ And new techniques are being developed to prevent the need for mechanical heart valve implants altogether.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

^ Surgical options include composite valve graft, valve-sparing procedure and bio-prosthetic/tissue valve.
  • ISPUB - Marfan Syndrome: Diagnosis And Workup Of Cardiac Manifestations 18 January 2010 13:32 UTC www.ispub.com [Source type: Academic]

[30] .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.^ Predominant aortic aneurysm with other subdiagnostic features of Marfan syndrome .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ If dilation of the aorta progresses to a significant diameter aneurysm, causes a dissection or rupture, or leads to failure of the aortic or other valve, then surgery becomes necessary.
  • Marfan's Syndrome: Michael Phelps' Blessing or Curse? | Cleveland Leader 18 January 2010 13:32 UTC www.clevelandleader.com [Source type: Original source]

^ PDF » Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms..
  • Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome -- Habashi et al. 312 (5770): 117 -- Science 18 January 2010 13:32 UTC www.sciencemag.org [Source type: Academic]

.The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening.^ The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]
  • What is Marfan Syndrome? - Yahoo! Answers 18 January 2010 13:32 UTC answers.yahoo.com [Source type: General]

^ Manifestations of Marfan syndrome .
  • Marfan Syndrome, Cincinnati Children's Hospital Medical Center 18 January 2010 13:32 UTC www.cincinnatichildrens.org [Source type: Academic]

^ The ocular manifestations should be managed by an ophthalmologist with expertise in Marfan syndrome.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

.These symptoms are usually treated in the typical manner for the appropriate condition, such as with various kinds of pain medication or muscle relaxants.^ These problems can cause signs and symptoms, such as: .
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Pinched nerves, tics, twitches, numbness, shooting pain, all of these things can be a symptom of dural ectasia (just the fancy word for "herniations of the dura").
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

^ These symptoms typically go away after a month or two.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

.It is also common for patients to receive treatment from a physiotherapist, using TENS therapy, ultrasound and skeletal adjustment.^ Nonoperative treatment in the form of forcible stretching with the patient under anesthesia and weight-extension on an abduction frame was used to overcome the contractures around the hip 30 .
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

.January 2009" style="white-space:nowrap;">[citation needed] This can also affect height, arm length, and life span.^ The extremities are disproportionately long for the size of the trunk (dolichostenomelia) leading to an increase in the arm span-to-height and upper-to-lower segment ratios.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ A person's arm span (the distance from the fingertips of one hand to the fingertips of the other with the arms stretched out from the sides) may be greater than his or her height.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

.A physiotherapist can also help improve function and prevent injuries in individuals with Marfan's.^ Sometimes people with Marfan syndrome need chest surgery to limit damage and disfigurement, to prevent heart and lung compression or impaired function, or to improve their appearance.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Treatments are available for Marfan syndrome to limit and prevent complications, prevent death from heart-related complications, improve physical appearance, and limit disfigurement.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

.The Nuss procedure is now being offered to people with Marfan syndrome to correct 'sunken chest' or (pectus excavatum).^ Funnel chest, also called pectus excavatum.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ It also occurs in people who do not have Marfan syndrome.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ People with Marfan syndrome often have: .
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

[31] .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.^ Patients may have Marfan syndrome but are not recognized.
  • Heartfelt Help - Stanford Medicine Magazine - Stanford University School of Medicine 18 January 2010 13:32 UTC mednews.stanford.edu [Source type: FILTERED WITH BAYES]

^ 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.
  • MARFAN SYNDROME - a knol by Gav Weston 18 January 2010 13:32 UTC knol.google.com [Source type: FILTERED WITH BAYES]
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Children with Marfan's should have regular eye exams beginning at an early age because nearsightedness is a common condition.
  • My daughter has Marfan's Syndrome 18 January 2010 13:32 UTC www.squidoo.com [Source type: General]

Treatment of a spontaneous pneumothorax is dependent 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 one to two weeks. .Recurrent pneumothoraces might require chest surgery.^ Sometimes severe cases of scoliosis and chest wall abnormalities may require surgery.
  • Marfan Syndrome 2008-10-10 00:00:00.0 18 January 2010 13:32 UTC www.devoschildrens.org [Source type: FILTERED WITH BAYES]

Moderately sized pneumothoraces might need chest drain management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.
.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.^ Losartan showed the ability to prevent aneurysm in Marfan mice.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Predominant aortic aneurysm with other subdiagnostic features of Marfan syndrome .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

[32] .A large clinical trial sponsored by the National Institutes of Health comparing the effects of losartan and atenolol on the aortas of Marfan patients was scheduled to begin in early 2007, coordinated by Johns Hopkins.^ Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

^ This early intervention may abate the inevitable loss of motion and the future pain of osteoarthritis in these carefully selected patients with Marfan syndrome.
  • Protrusio Acetabuli in Marfan Syndrome. History, Diagnosis, and Treatment -- Van de Velde et al. 88 (3): 639 -- Journal of Bone and Joint Surgery 18 January 2010 13:32 UTC www.ejbjs.org [Source type: Academic]

^ A small observational study showed an apparent protective effect of losartan in a subset of children with severe Marfan syndrome [ Brooke et al 2008 ].
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

[33]
.Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members.^ If a parent is affected , his or her family members are at risk.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members.
  • Marfan syndrome: Encyclopedia with 57,945 entries from biotech, medicine & life sciences. 18 January 2010 13:32 UTC www.bionity.com [Source type: Academic]

^ Genetic counseling may be of benefit for affected individuals and their families.
  • CIGNA - Marfan Syndrome 18 January 2010 13:32 UTC www.cigna.com [Source type: Academic]

Epidemiology

.Marfan syndrome affects males and females equally,[34] and the mutation shows no ethnic or geographical bias.^ Currently, Marfan syndrome has no cure.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Heterozygous TGFBR2 mutations in Marfan syndrome.
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Marfan Syndrome is a rare genetic disorder affecting roughly 1 in 10,000 (probably higher, maybe 1 in 5,000 or 1 in 3,000) individuals, with no tendency to prefer one ethnic group or gender over another; people of all ethnicities and either sex are equally likely to be affected.
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

[35] .Estimates indicate that approximately 1 in 3,000 to 5,000 individuals have Marfan syndrome.^ Approximately 75% of individuals diagnosed with Marfan syndrome have an affected parent.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Echocardiography of relatives is indicated upon appreciation of any suspicious signs of Marfan syndrome, and even in apparently unaffected individuals if findings are subtle in the index case.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ These criteria also apply if an individual has an FBN1 mutation that has previously been associated with Marfan syndrome or an FBN1 haplotype, inherited by descent, which segregates with disease within the extended family.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

[35] .Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature.^ The loss of a child is always a particularly hard thing to deal with, and some parents of kids with Marfan have lost their child to the disorder without even knowing what Marfan was, or that their child had a genetic disorder.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

^ Parents who themselves do not have Marfan syndrome and do not have a family history of Marfan syndrome, but who have an affected child, should meet with a genetic counselor to discuss their risks in another pregnancy.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ The chances that a child will inherit Marfan Syndrome if one parent has it are 50%, no more no less.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

.Most individuals with Marfan syndrome have another affected family member - approximately 15–30% of all cases are due to de novo genetic mutations[13]—such spontaneous mutations occur in about 1 in 20,000 births.^ It also occurs in people who do not have Marfan syndrome.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

^ Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Is Marfan Syndrome in the news at all?
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]
  • Janis Cortese: Marfan Syndrome 18 January 2010 13:32 UTC www.io.com [Source type: Original source]

.Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.^ Heterozygous TGFBR2 mutations in Marfan syndrome.
  • PLoS ONE: LRP1 Functions as an Atheroprotective Integrator of TGFβ and PDGF Signals in the Vascular Wall: Implications for Marfan Syndrome 18 January 2010 13:32 UTC www.plosone.org [Source type: Academic]

^ Marfan syndrome is caused by mutations (changes) in one member of a pair of genes called the fibrillin genes.
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

^ HPLC (DHPLC) for routine mutation detection in the Marfan syndrome.
  • Arch Ophthalmol -- Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome, February 2006, Ganesh et al. 124 (2): 205 18 January 2010 13:32 UTC archopht.highwire.org [Source type: Academic]

[36][37] It is associated with variable expressivity; incomplete penetrance has not been definitively documented.

Well-known people

Prominent figures who have been diagnosed with Marfan syndrome include:

Speculative claims concerning historical figures

.The diagnosis of Marfan syndrome was not available until well into the 20th century, but there has been speculation on whether historical figures may have had it, based on sparse medical records, descriptions, and images.^ The diagnosis of Stickler syndrome is clinically based.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Challenges in the diagnosis of Marfan syndrome.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

^ Marfan syndrome may be diagnosed prenatally, at birth, or well into adulthood.
  • Marfan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease 18 January 2010 13:32 UTC emedicine.medscape.com [Source type: Academic]

Ancient figures include Akhenaten, Egyptian pharaoh, based on his image in early Amarna art.[44] (This was disproven by forensic tests in 2010[45].) Musicians and composers Niccolò Paganini[46], Sergei Rachmaninoff[47], and Robert Johnson [48] are thought by some to have had the disease. .A 1962 theory that Abraham Lincoln had Marfan syndrome has little currency today.^ A surprising number of websites are up about Marfan Syndrome, mostly because of Abraham Lincoln and Pharaoh Akenaten, two historical figures that many people believe may have been affected by Marfan Syndrome.
  • Janis Cortese: Marfan Syndrome 20 September 2009 17:28 UTC www.io.com [Source type: Original source]

^ Today, because of early diagnosis and better medical and surgical treatments, people with Marfan syndrome can live longer and healthier lives, with fewer and less severe complications.
  • Marfan Syndrome - Medpedia 18 January 2010 13:32 UTC wiki.medpedia.com [Source type: FILTERED WITH BAYES]

[49][50] .According to a 2007 theory, it is more likely that he had a different disorder, multiple endocrine neoplasia type 2B, that caused skeletal features almost identical to Marfan syndrome.^ Many of the skeletal features of Marfan syndrome are common in the general population.
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ Predominant or isolated skeletal features of Marfan syndrome .
  • Marfan Syndrome -- GeneReviews -- NCBI Bookshelf 18 January 2010 13:32 UTC www.ncbi.nlm.nih.gov [Source type: Academic]

^ What causes Marfan syndrome?
  • Marfan Syndrome - March of Dimes 18 January 2010 13:32 UTC www.marchofdimes.com [Source type: FILTERED WITH BAYES]

[51]

References

  1. ^ Kainulainen K, Karttunen L., Puhakka L, Sakai L, Peltonen L. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994; 6: 64-9.
  2. ^ a b Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet 2005; 139: 4-9.
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    See also:
    • Cameron DE, Vricella LA (2005). "Valve-sparing aortic root replacement in Marfan syndrome". Seminars in Thoracic and Cardiovascular Surgery 8: 103–11. doi:10.1053/j.pcsu.2005.03.001. PMID 15818365. 
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    • Bethea BT, Fitton TP, Alejo DE, et al. (September 2004). "Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients". The Annals of Thoracic Surgery 78 (3): 767–72; discussion 767–72. doi:10.1016/j.athoracsur.2004.03.040. PMID 15336989. 
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External links


Wiktionary

Up to date as of January 15, 2010

Definition from Wiktionary, a free dictionary

Contents

English

Etymology

After Antoine Marfan, French pediatrician who first described the condition in 1896.

Noun

Singular
Marfan syndrome
Plural
Marfan syndromes
Marfan syndrome (plural Marfan syndromes)
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Wikipedia has an article on:
  1. A genetic disorder of the connective tissue that causes defects in the heart valves and aorta.

Related terms


Citable sentences

Up to date as of December 12, 2010

Here are sentences from other pages on Marfan syndrome, which are similar to those in the above article.








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