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Encyclopedia > Marfan Syndrome
Marfan syndrome
Classification & external resources
ICD-10 Q87.4
ICD-9 759.82
OMIM 154700
DiseasesDB 7845
MedlinePlus 000418
eMedicine ped/1372  orthoped/414
MeSH C17.300.500

Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue characterized by disproportionately long limbs, long thin fingers, a typically tall stature, and a predisposition to cardiovascular abnormalities, specifically those affecting the heart valves and aorta. The disorder may also affect numerous other structures and organs — including the lungs, eyes, dural sac surrounding the spinal cord, and hard palate. It is named after Antoine Marfan, the French pediatrician who first described it in 1899. Image File history File links No higher resolution available. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... It has been suggested that this article or section be merged into Dominance relationship. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ... A limb (from the Old English lim) is a jointed, or prehensile (as octopus tentacles or new world monkey tails), appendage of the human or animal body; a large or main branch of a tree; a representative, branch or member of a group or organization. ... In anatomy, the heart valves are valves in the heart that prevent blood from flowing the wrong way. ... The aorta (generally pronounced [eɪˈɔːtÉ™] or ay-orta) is the largest artery in the human body, originating from the left ventricle of the heart and bringing oxygenated blood to all parts of the body in the systemic circulation. ... Human respiratory system The lungs flank the heart and great vessels in the chest cavity. ... The Spinal cord nested in the vertebral column. ... The hard palate is a thin horizontal bony plate of the skull, otherwise known as the palatine process of the maxilla, located in the roof of the mouth. ... Bernard-Jean Antoine Marfan (June 20, 1858_1942) was a French pediatrician. ... Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that deals with the medical care of infants and children. ...

Contents

Epidemiology

Marfan syndrome affects males and females equally,[1] and the mutation shows no geographical bias. Estimates indicate that approximately 60 000 (1 in 5000, or 0.02% of the population)[1] to 200 000[2] Americans have Marfan syndrome. Each parent with the condition has a 50% chance of passing it on to a child due to its autosomal dominant nature. Most individuals with Marfan syndrome have another affected family member, but approximately 15-30% of all cases are due to de novo genetic mutations[3] — such spontaneous mutations occur in about 1 in 20 000 births. Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency.[4][5] It is associated with variable expressivity. Incomplete penetrance has not been definitively documented. It has been suggested that this article or section be merged into Dominance relationship. ... In medicine and genetics, a de novo mutation is a mutation which neither parent possessed or transmitted. ... This article is about mutation in biology, for other meanings see: mutation (disambiguation). ... For other senses of this word, see mutation (disambiguation). ... Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to... Penetrance is a term used in genetics that describes the extent to which the properties controlled by a gene, its phenotype, will be expressed. ...


Pathogenesis

Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15,[6] which encodes a glycoprotein called fibrillin-1, an component of the extracellular matrix. The Fibrillin 1 protein is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastin fibers. The extracellula matrix is critical for both the structural integrity of connective tissue but also serves as a reservoir for growth factors. [3] 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. For other uses, see Gene (disambiguation). ... A scheme of a condensed (metaphase) chromosome. ... This article is about the general scientific term. ... N-linked protein glycosylation (N-glycosylation of N-glycans) at Asn residues (Asn-x-Ser/Thr motifs) in glycoproteins[1]. Glycoproteins are proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbones. ... Fibrillin is a protein, which is essential for the formation of elastic fibres found in connective tissue. ... The aorta (generally pronounced [eɪˈɔːtə] or ay-orta) is the largest artery in the human body, originating from the left ventricle of the heart and bringing oxygenated blood to all parts of the body in the systemic circulation. ... In anatomy, the term ligament is used to denote three different types of structures:[1] Fibrous tissue that connects bones to other bones. ... The zonule of Zinn is a ring of fibrous strands connecting the ciliary body with the crystalline lens of the eye. ...


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. This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. It has been found that simply reducing the level of normal fibrillin-1 causes a Marfan-related disease in mice.[7]


Transforming growth factor beta (TGFβ) plays an important role in Marfan syndrome. Fibrillin-1 indirectly binds a latent form of TGFβ keeping it sequestered and unable to exert its biological activity. The simplest model of Marfan syndrome suggests that reduced levels of fibrillin-1 allow TGFb levels to rise due to inadequate sequestration. Although it is not proven how elevated TGFb levels would be 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. The importance of the TGFb 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.[8] Marfan syndrome has often been confused with Loeys-Dietz syndrome, because of the considerable clinical overlap between the two syndromes.[9] Transforming growth factor (TGF) is one of many characterized growth factors that exist in nature. ... Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2). ... A scheme of a condensed (metaphase) chromosome. ... Transmembrane receptors are integral membrane proteins, which reside and operate typically within a cells plasma membrane, but also in the membranes of some subcellular compartments and organelles. ... Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2). ...


Symptoms

Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, dislocated lenses, and aortic root dilitation is sufficient to make the diagnosis with confidence. There are more than thirty other clinical features that are variably associated with the syndrome most involving the skeleton, skin, and joints. There is a great deal of clinical variability even within families that carry the identical mutation.


Skeletal system

The most readily visible signs are associated with the skeletal system. Many individuals with Marfan Syndrome grow to above average height. Some have long slender limbs with fingers and toes that are also abnormally long and slender (arachnodactyly). This long, slender body habitus and long, slender limbs are known as dolichostenomelia. An individual's arms may be disproportionately long. In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal signs. Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum. Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, stooped shoulders, and unexplained stretch marks on the skin. Some people with Marfans have speech disorders resulting from symptomatic high palates and small jaws. Marfan syndrome is a connective tissue disorder, affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. ... Medical description of people who are tall and slender with long limbs (dolichostenomelia) and digits (arachnodactyly) ... The vertebral column seen from the side Different regions (curvatures) of the vertebral column The vertebral column (backbone or spine) is a column of vertebrae situated in the dorsal aspect of the abdomen. ... Pectus excavatum is a congenital deformity (often present at birth) of the sternum, which is pressed into the chest, resulting in a caved-in or sunken appearance. ... Pectus carinatum, also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum. ... The sternum (from Greek στέρνον, sternon, chest) or breastbone is a long, flat bone located in the center of the thorax (chest). ... The palate is the roof of the mouth in humans and vertebrate animals. ... A malocclusion refers to the misalignment of teeth. ... Look up stria in Wiktionary, the free dictionary. ... Speech disorders or speech impediments, as they are also called, are a type of communication disorders where normal speech is disrupted. ...


Eyes

Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result. Periodic eye exams can lead to an ophthalmologist or optometrist discovering dislocation, or subluxation, of the crystalline lens in one or both eyes (ectopia lentis) by carefully observing these structures using a slit-lamp biomicroscope. This can be differentiated from the similar condition homocystinuria, where the dislocation is inferonasal; in Marfan's the dislocation is superotemporal. Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.[10] Early onset glaucoma can be another complication. Normal vision. ... In optics, astigmatism is when an optical system has different foci for rays that propagate in two perpendicular planes. ... Ophthalmology is the branch of medicine which deals with the diseases of the eye and their treatment. ... Optometrists are primary care practitioners for vision and ocular health concerns. ... A subluxation may refer to: // A subluxation[1] is an incomplete or partial dislocation (Latin: luxatio)[2] of a joint or organ. ... Light from a single point of a distant object and light from a single point of a near object being brought to a focus by changing the curvature of the lens. ... Anterior lens luxation Ectopia lentis is a displacement or malposition of the eyes crystalline lens from its normal location. ... The slit-lamp examination looks at structures that are at the front of the eye (the anterior segment): The eyelid, the sclera (white outer structure of the eye), conjunctiva (membranes lining the eyelid and sclera surface), iris (colored part of the eye), natural crystalline lens, and the cornea (thin transparent... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. ...


Cardiovascular system

The most serious conditions associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or pain in the left chest, back, shoulder, or arm, can bring a person into the doctor's office. A heart murmur heard on a stethoscope, an abnormal reading on an electrocardiogram, or symptoms of angina can lead a doctor to order an echocardiogram. This can reveal signs of leakage or prolapse of the mitral or aortic valves that control the flow of blood through the heart. (See mitral valve prolapse.) However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm. Sometimes, no heart problems are apparent until the weakening of the connective tissue in the ascending aorta causes an aortic aneurysm or even aortic dissection. A palpitation is an awareness of the beating of the heart, whether it is too slow, too fast, irregular, or at its normal frequency; brought on by overexertion, adrenaline, alcohol, disease (e. ... This article or section does not cite any references or sources. ... angina tonsillaris see tonsillitis. ... Murmurs are abnormal heart sounds that are produced as a result of turbulent blood flow which is sufficient to produce audible noise. ... Look up stethoscope in Wiktionary, the free dictionary. ... “QRS” redirects here. ... angina tonsillaris see tonsillitis. ... The echocardiogram is an ultrasound of the heart. ... Prolapse literally means To fall out of place. ... Grays Fig. ... Mitral valve prolapse (MVP) is a heart valve condition marked by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. ... An aortic aneurysm is a general term for any swelling (dilatation or aneurysm) of the aorta, usually representing an underlying weakness in the wall of the aorta at that location. ... The aorta (generally pronounced [eɪˈɔːtə] or ay-orta) is the largest artery in the human body, originating from the left ventricle of the heart and bringing oxygenated blood to all parts of the body in the systemic circulation. ... An aortic aneurysm is a general term for any swelling (dilatation or aneurysm) of the aorta, usually representing an underlying weakness in the wall of the aorta at that location. ... Aortic dissection is a tear in the wall of the aorta (the largest artery of the body). ...


Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.[11] Care should be taken to attempt repair of damaged heart valves rather than replacement.


During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of acute aortic dissection, which can be lethal if untreated. For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and echocardiography should be performed every 6-10 weeks during pregnancy, to assess the aortic root diameter. Most women however tolerate pregnancy well and safe vaginal delivery is possible.[12] Aortic dissection is a tear in the wall of the aorta (the largest artery of the body). ... An echocardiogram. ...


Lungs

Marfan syndrome is a risk factor for spontaneous pneumothorax. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the pleural space between the chest wall and a lung. The lung becomes partially compressed or collapsed. This can cause pain, shortness of breath, cyanosis, and, if not treated, death. Marfan syndrome has also been associated with sleep apnea and idiopathic obstructive lung disease. A risk factor is a variable associated with an increased risk of disease or infection but risk factors are not necessarily causal. ... “Collapsed lung” redirects here. ... The lungs are surrounded by two membranes, the pleurae. ... Human respiratory system The lungs flank the heart and great vessels in the chest cavity. ... Cyanosis refers to the bluish coloration of the skin due to the presence of deoxygenated hemoglobin in blood vessels near the skin surface. ... Sleep apnea, sleep apnoea or sleep apnœa is a sleep disorder characterized by pauses in breathing during sleep. ... Idiopathic means arising spontaneously or from an obscure or unknown cause. ...


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. Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches. Such symptoms usually diminish when the individual lies flat on his or her back. 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. 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. 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.[10] Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts. Dural ectasia is a widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. ... The Spinal cord nested in the vertebral column. ... Back pain (also known dorsalgia) is pain felt in the back that may originate from the muscles, nerves, bones, joints or other structures in the spine. ... Abdominal pain can be one of the symptoms associated with transient disorders or serious disease. ... A headache is a condition of mild to severe pain in the head; sometimes upper back or neck pain may also be interpreted as a headache. ... In the NATO phonetic alphabet, X-ray represents the letter X. An X-ray picture (radiograph) taken by Röntgen An X-ray is a form of electromagnetic radiation with a wavelength approximately in the range of 5 pm to 10 nanometers (corresponding to frequencies in the range 30 PHz... In anatomy, lumbar is an adjective that means of or pertaining to the abdominal segment of the torso, between the diaphragm and the sacrum (pelvis). ... The mri are a fictional alien species in the Faded Sun Trilogy of C.J. Cherryh. ... The lumbar vertebrae are the largest segments of the movable part of the vertebral column, and are characterized by the absence of the foramen transversarium within the transverse process, and by the absence of facets on the sides of the body. ...


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.[13] The syndrome is treated by addressing each issue as it arises, and, in particular, considering prophylactic medication, even for young children, to slow progression of aortic dilation.


Regular checkups by a cardiologist are needed to monitor the health of the heart valves and the aorta. The goal of treatment is to slow the progression of aortic dilation and damage to heart valves by eliminating arrythmias, minimizing the heart rate, and minimizing blood pressure. Beta blockers have been used to control arrythmias and slow the heart rate. Other medications might be needed to further minimize blood pressure without slowing the heart rate, such as ACE inhibitors and angiotensin II receptor antagonists, also known as angiontensin receptor blockers (ARBs). 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. Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis. Surgery in the setting of acute aortic dissection or rupture is considerably more problematic. Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimetres, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.[14] 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. ... Cardiac arrhythmia is any of a group of conditions in which the electrical activity of the heart is irregular or is faster or slower than normal. ... Heart rate is a term used to describe the frequency of the cardiac cycle. ... A sphygmomanometer, a device used for measuring arterial pressure. ... Beta blockers or beta-adrenergic blocking agents are a class of drugs used to treat a variety of cardiovascular conditions and some other diseases. ... Cardiac arrhythmia is any of a group of conditions in which the electrical activity of the heart is irregular or is faster or slower than normal. ... Heart rate is a term used to describe the frequency of the cardiac cycle. ... A sphygmomanometer, a device used for measuring arterial pressure. ... Heart rate is a term used to describe the frequency of the cardiac cycle. ... ACE inhibitors, or inhibitors of Angiotensin_Converting Enzyme, are a group of pharmaceuticals that are used primarily in treatment of hypertension and congestive heart failure, in most cases as the drugs of first choice. ... Losartan, the first ARB Angiotensin II receptor antagonists, also known as angiotensin receptor blockers (ARBs), AT1-receptor antagonists or sartans, are a group of pharmaceuticals which modulate the renin-angiotensin-aldosterone system. ... Post surgical photo of brain aneurysm survivor. ...


The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in the typical manner for the appropriate condition. This can also affect height, arm length, and life span. The Nuss procedure is now being offered to people with Marfan syndrome to correct 'sunken chest' or (pectus excavatum).[15] 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. This article or section is not written in the formal tone expected of an encyclopedia article. ... Pectus excavatum is a congenital deformity (often present at birth) of the sternum, which is pressed into the chest, resulting in a caved-in or sunken appearance. ...


Clinical trials have been conducted of the drug acetazolamide in the treatment of symptoms of dural ectasia. The treatment has demonstrated significant functional improvements in some sufferers.[16] Other medical treatments, as well as physical therapy, are also available. Acetazolamide, sold under the trade name Diamox®, is a carbonic anhydrase inhibitor that is used to treat glaucoma, epileptic seizures, benign intracranial hypertension and altitude sickness. ... Dural ectasia is a widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. ...


Treatment of a spontaneous pneumothorax is dependant on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in 1 to 2 weeks. Recurrent pneumothoraxes might require chest surgery. Moderately sized pneumothoraxes might need chest drain management for several days in hospital. Large pneumothoraxes are likely to be medical emergencies requiring emergency decompression. “Collapsed lung” redirects here. ... A chest tube or chest drain is a flexible plastic tube that is inserted through the side of the chest into the pleural space. ...


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.[17] A large clinical trial sponsored by the National Institutes of Health comparing the effects of losartan and atenolol on the aortas of Marfan patients is scheduled to begin in early 2007, coordinated by Johns Hopkins.[18] This article is about the animal. ... Losartan, the first ARB Angiotensin II receptor antagonists, also known as angiotensin receptor blockers (ARBs), AT1-receptor antagonists or sartans, are a group of pharmaceuticals which modulate the renin-angiotensin-aldosterone system. ... Losartan (rINN) (IPA: ) is an angiotensin II receptor antagonist drug used mainly to treat high blood pressure (hypertension). ... In health care, including medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is a process in which a medicine or other medical treatment is tested for its safety and effectiveness, often in comparison to existing treatments. ... National Institutes of Health Building 50 at NIH Clinical Center - Building 10 The National Institutes of Health (NIH) is an agency of the United States Department of Health and Human Services and is the primary agency of the United States government responsible for biomedical research. ... Atenolol is a drug belonging to the group of beta blockers, a class of drugs used primarily in cardiovascular diseases. ...


Genetic counseling and specialized clinics are available at many academic medical centers for affected persons and family members.


Well known people

Below is a list of prominent figures known or believed to have had Marfan syndrome:

Euell Gibbons (1911–December 29, 1975) was an outdoorsman and proponent of natural diets, famous during the 1960s. ... Flora Jean Hyman (July 31, 1954 in Inglewood, California – January 24, 1986 in Japan) was an American volleyball player and Olympic silver medalist. ... For other persons named Robert Johnson, see Robert Johnson (disambiguation). ... Vincent Schiavelli and his then wife Allyce Beasley (September 20, 1987) Photo by Alan Light Vincent Andrew Schiavelli (November 10, 1948 – December 26, 2005) was an American character actor noted for his work in film and television. ... Sir John Tavener (born 28 January 1944 in London) is an English composer. ... For the film, see The Deer Hunter. ... Joey Ramone (May 19, 1951 – April 15, 2001), born as Jeffry Ross Hyman, was a vocalist and songwriter best known for his work in the punk rock group the Ramones. ... The Ramones (L-R, Johnny, Tommy, Joey, Dee Dee) on the cover of their debut self-titled album (1976), cementing their place at the dawn of the punk movement. ... Jonathan Larson (February 4, 1960 - January 25, 1996) was a composer from New York City who created musicals including Rent and tick, tick. ... Rent can refer to: Renting, a system of payment for the temporary use of something owned by someone else. ...

Spurious or conjectural claims

There are a number of historical persons believed to have suffered from Marfan's syndrome, but as proper Marfan diagnosis was not available before well into the 20th century most such claims can only be considered as speculation based on sparse medical records and pictures.

For other uses, see Akhenaten (disambiguation). ... Osama bin Muhammad bin Awad bin Laden (Arabic: ‎; born March 10, 1957[1]), most often mentioned as Osama bin Laden or Usama bin Laden, is a Saudi Arabian militant Islamist and is widely believed to be one of the founders of the organization called al-Qaeda. ... For other uses, see Charles de Gaulle (disambiguation). ... Niccolò (or Nicolò) Paganini (October 27, 1782 – May 27, 1840) was an Italian violinist, violist, guitarist, and composer. ... For other uses, see Abraham Lincoln (disambiguation). ...

Related disorders

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

The following conditions that can result from having Marfan syndrome and may also occur in people without any known underlying disorder. what leads doctors to a diagnosis of marfan syndrome is family history and a combination of major and minor indicators of the disorder that occur in one individual which is a rare manifestation in general population. Example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. Marfan syndrome is a connective tissue disorder, affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ... Homocystinuria, also known as Cystathionine beta synthase deficiency, is inherited disorder of the metabolism of the amino acid methionine. ... Loeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2). ... MASS phenotype is a medical disorder similar to Marfan syndrome. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ...


An aortic aneurysm is a general term for any swelling (dilatation or aneurysm) of the aorta, usually representing an underlying weakness in the wall of the aorta at that location. ... Marfan syndrome is a connective tissue disorder, affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. ... A bicuspid aortic valve is a heart condition that is usually due to a congenital deformity. ... A cyst is a closed sac having a distinct membrane and developing abnormally in a cavity or structure of the body. ... Cystic medial necrosis (also referred to as cystic medial degeneration) is a disorder of large arteries, in particular the aorta, where there is a focal degeneration of the elastic tissue and the muscle in the tunica media (the middle layer of the artery), with the presence of mucoid material in... Dural ectasia is a widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. ... Anterior lens luxation Ectopia lentis is a displacement or malposition of the eyes crystalline lens from its normal location. ... Flat feet, also called pes planus or fallen arches, is a condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground. ... Anna Haining Bates with her parents Greek gigas, gigantus (giant) is a condition characterized by excessive height growth and bigness. ... A hernia is the protrusion of an organ or tissue out of the body cavity in which it normally lies. ... It has been suggested that this article or section be merged with Human Anatomical Terms. ... A malocclusion refers to the misalignment of teeth and/or incorrect relation between the teeth of the two dental arches. ... Mitral valve prolapse (MVP) is a heart valve condition marked by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. ... Normal vision. ... Chronic obstructive pulmonary disease (COPD), also known as chronic obstructive airway disease (COAD), is a group of diseases characterized by limitation of airflow in the airway that is not fully reversible. ... Osteoarthritis (OA, also known as degenerative arthritis, degenerative joint disease, or in more colloquial terms wear and tear), is a condition in which low-grade inflammation results in pain in the joints, caused by wearing of the cartilage that covers and acts as a cushion inside joints and destruction or... Pectus carinatum, also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum. ... Pectus excavatum is a congenital deformity (often present at birth) of the sternum, which is pressed into the chest, resulting in a caved-in or sunken appearance. ... “Collapsed lung” redirects here. ... Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. ... Sleep apnea, sleep apnoea or sleep apnœa is a sleep disorder characterized by pauses in breathing during sleep. ... Look up stria in Wiktionary, the free dictionary. ...

References

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  2. ^ New, Deadly Relative of Marfan's Syndrome Discovered. MedicineNet.com (2006). Retrieved on 2007-01-11.
  3. ^ a b Cotran; Kumar, Collins. Robbins Pathologic Basis of Disease. Philadelphia: W.B Saunders Company. 0-7216-7335-X. 
  4. ^ Judge, Daniel P.; Nancy J. Biery, Douglas R. Keene, Jessica Geubtner, Loretha Myers, David L. Huso, Lynn Y. Sakai, Harry C. Dietz. "Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.". The Journal of Clinical Investigation 114 (2): 172-181. doi:10.1172/JCI200420641. PMID 15254584. Retrieved on 2007-02-15. 
  5. ^ Judge, Daniel P.; Harry C. Dietz (2005). "Marfan's syndrome.". Lancet 366 (9501): 1965-76. doi:10.1016/S0140-6736(05)67789-6.. PMID 16325700. Retrieved on 2007-02-15. 
  6. ^ McKusick V (1991). "The defect in Marfan syndrome.". Nature 352 (6333): 279-81. PMID 1852198. 
  7. ^ Lygia Pereira, et al. (1999). "Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1". Proceedings of the National Academy of Sciences 96 (7). 
  8. ^ Entrez Gene (2007). TGFBR2 transforming growth factor, beta receptor II (Entrez gene entry). NCBI. Retrieved on 2007-01-11.
  9. ^ Related Disorders: Loeys-Dietz. National Marfan Foundation. Retrieved on 2007-01-11.
  10. ^ a b Marfan Syndrome. Mayo Clinic. Retrieved on 2007-01-12.
  11. ^ (2005) Braunwald's Heart Disease ~ A Textbook of Cardiovascular Medicine, Seventh Edition. United States of America: Elseview Saunders, 1894. ISBN 0-7216-0509-5. 
  12. ^ Marfan Syndrome, special concerns. Retrieved on 2007-06-25.
  13. ^ Freeman, Elaine (2007) "A Silver Bullet for Blake", Johns Hopkins Magazine, Fall, 2007.
  14. ^ Heart Surgery for Marfan Syndrome. Mayo Clinic. Retrieved on 2007-01-12.
  15. ^ Overview of the Nuss Procedure for Pectus Excavatum. Children's Hospital of The King's Daughters. Retrieved on 2007-01-12.
  16. ^ Dural Ectasia in the Marfan Spine: Symptoms and Treatment. Scoliosis Research Society. Retrieved on 2007-01-12.
  17. ^ Habashi, Jennifer P.; Daniel P. Judge, Tammy M. Holm, Ronald D. Cohn, Bart L. Loeys, Timothy K. Cooper, Loretha Myers, Erin C. Klein, Guosheng Liu, Carla Calvi, Megan Podowski, Enid R. Neptune, Marc K. Halushka, Djahida Bedja, Kathleen Gabrielson, Daniel B. Rifkin, Luca Carta, Francesco Ramirez, David L. Huso, and Harry C. Dietz (April 7, 2006). "Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome" 312 (5770): 117 - 121. doi:10.1126/science.1124287. 
  18. ^ Atenolol vs. Losartan in Individuals with Marfan Syndrome Clinial Trial. National Marfan Foundation. Retrieved on 2007-01-12.
  19. ^ Flo Hyman. Volleyball Hall of Fame. Retrieved on 2007-01-11.
  20. ^ Connel, David (September 2, 2006). "Retrospective blues: Robert Johnson—an open letter to Eric Clapton". British Medical Journal 333 (7566): 489. Retrieved on 2007-01-11. 
  21. ^ NMF Mourns the Loss of its Honorary Co-Chair, Vincent Schiavelli. National Marfan Foundation. Retrieved on 2007-01-11.
  22. ^ Richard Morrison, 99 Names for God: John Tavener turns his back on Orthodoxy, BBC Music, November 2004, page 30
  23. ^ Pitchfork Feature: Interview: Deerhunter.
  24. ^ Did Akhenaten Suffer from Marfan's Syndrome?. Canadian Marfan Association. Retrieved on 2007-01-11.
  25. ^ http://archive.salon.com/people/feature/2001/11/09/marfan/index.html
  26. ^ http://archive.salon.com/people/feature/2001/11/09/marfan/index.html
  27. ^ [1], main reference being an article in the AMA journal by Dr. Myron R. Shoenfeld dated 2 January, 1978.
  28. ^ http://www.mayoclinic.com/health/marfan-syndrome/DS00540
  29. ^ http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=cardio.chapter.978>

Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 46th day of the year in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 46th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 12th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 176th day of the year (177th in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 12th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 12th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 12th day of the year in the Gregorian calendar. ... April 7 is the 97th day of the year in the Gregorian calendar (98th in leap years). ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 12th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... is the 245th day of the year (246th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ... Year 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the AD/CE era in the 21st century. ... is the 11th day of the year in the Gregorian calendar. ...

External links


  Results from FactBites:
 
Marfan Syndrome (594 words)
The Marfan syndrome is a connective tissue disorder.
In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal.
In the Marfan syndrome, the walls of the major arteries are weakened.
Marfan Syndrome (1839 words)
Marfan syndrome is a condition that affects the connective tissue.
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, major components of connective tissue.
Marfan syndrome is also referred to as a "variable expression" genetic disorder, in that everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.
  More results at FactBites »

 
 

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