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Marfan Syndrome

NORD is very grateful to Hal Dietz, MD, Victor A. McKusick Professor of Medicine and Genetics, Institute of Genetic Medicine, Investigator, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, for assistance in the preparation of this report.

Synonyms of Marfan Syndrome

  • MFS

Disorder Subdivisions

  • Marfan syndrome type I
  • Marfan syndrome type II

General Discussion

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and tear (dissection) of the main artery that carries blood away from the heart (aorta), floppiness of the mitral valve (mitral valve prolapse) and backward flow of blood through the aortic and mitral valves (aortic and mitral regurgitation). The specific symptoms and the severity of Marfan syndrome vary greatly from case to case. Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inheited from one parent is sufficient to have the condition. Defects or disruptions (mutations) of the fibrillin-1 (FBN1) gene have been linked to Marfan syndrome and related disorders.

Symptoms

The specific symptoms of Marfan syndrome vary greatly from case to case. Some individuals will develop only a few mild or isolated symptoms; others will develop more serious complications. In most cases, Marfan syndrome progresses as individuals grow older. In some infants, Marfan syndrome may cause severe, rapidly progressive complications during infancy, often quickly affecting multiple organ systems early in life. Marfan syndrome can potentially affect many systems of the body including the heart, blood vessels, skeleton, eyes, lungs, and skin.

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. In addition, affected individuals usually have abnormally long, slender fingers (arachnodactyly). People with Marfan syndrome are usually very tall and thin in comparison to unaffected family members but not necessarily in comparison to the general population. They can lack muscle tone (hypotonia) and have little fat under the skin (subcutaneous fat).

A variety of skeletal malformations affect individuals with Marfan syndrome including overgrowth of the ribs, which can push the breastbone (sternum) inward resulting in a sunken chest (pectus excavatum) or outward resulting in a protruding chest (pectus carinatum). Additional symptoms include abnormally loose or flexible joints (joint hypermobility), flat feet (pes planus), fingers that are permanently bent or "fixed" and cannot extend or straighten fully (camptodactyly), and reduced extension of the elbow. In some cases, the joints may be unaffected or may become tight and stiff (contractures). Some individuals have an abnormally deep hip socket (acetabulum) with deep insertion of the head of the long bone (femur) of the leg (protrusio acetabulae) and signs of erosion. Many individuals with Marfan syndrome develop spinal abnormalities such as progressive curving of the spine (scoliosis) that may be mild or severe. Scoliosis may be associated with back pain in some cases. In children, skeletal abnormalities may progress during growth.

Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull (dolichocephaly), deep-set eyes (enophthalmos), an abnormally small jaw (micrognathia) that may be recessed farther back than normal (retrognathia), abnormally flat cheek bones (malar hypoplasia), and an abnormal downward slant to the eyes. Affected individuals may also exhibit a highly-arched roof of the mouth (palate), teeth that are crowded together and upper and lower teeth that do not meet (align) properly when biting (malocclusion).

Individuals with Marfan syndrome may have significant cardiovascular problems such as a common heart defect known as mitral valve prolapse. The mitral valve is located between the left upper and left lower chambers (left atrium and left ventricle, respectively) of the heart. Mitral valve prolapse occurs when one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left upper chamber (atrium) of the heart during contraction. In some cases, this may allow leakage or the backward flow of blood from the left lower chamber of the heart (ventricle) back into the left atrium (mitral regurgitation). In some cases, no associated symptoms are apparent (asymptomatic). However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), or evidence of inadequate heart function (congestive heart failure)

Additional cardiovascular symptoms include widening (aneurysm) and degeneration of the main artery that carries blood away from the heart (aorta), tearing (dissection) of the aorta so that blood seeps between the inner and outer layers of the aortic wall, and backward flow of blood from the aorta into the lower left chamber (ventricle) of the heart (aortic regurgitation). Some individuals may develop widening of the main artery of the lungs (pulmonary artery dilatation). If left untreated, the various heart abnormalities potentially associated with Marfan syndrome can cause life-threatening complications such as rupture of the aorta and congestive heart failure.

Individuals with Marfan syndrome develop abnormalities of the eyes, especially nearsightedness (myopia), which may develop early in childhood and become progressively worse. Approximately 60 percent of individuals develop displacement of the lenses of the eyes (ectopia lentis) away from the center of the eyeball. Ectopia lentis may occur at birth or later in life and may remain stable or become progressively worse.

Additional symptoms affecting the eyes include an abnormally flat cornea (the clear portion of the eyes through which light passes), underdevelopment of the colored portion of the eye (hypoplastic iris), and detachment of the nerve-rich membrane (retina) lining the back of the eyes. Some individuals with Marfan syndrome are at risk for the early development of cataracts or glaucoma. If left untreated, eye abnormalities can result in vision loss.

In addition to the more common symptoms discussed above, individuals with Marfan syndrome may develop air pockets near the top of the lungs (apical pulmonary blebs), which can predispose individuals to a leak of air within the chest cavity and lung collapse that occurs for no readily apparent reason (spontaneous pneumothorax). In some cases, pneumothorax can recur.

Some affected individuals may develop widening or bulging of the sac (dura) that surrounds the spinal cord (dural ectasia). This condition usually does not cause symptoms (asymptomatic), but has been associated with lower back pain and can cause pinching of a nerve leading to abnormal sensations or muscle performance in the legs (lower extremities). Affected individuals may also developed stretch marks (stria atrophicae) on certain areas of the skin without an obvious cause. In some cases, affected individuals may have an inguinal, umbilical or surgical hernia, in which a weakened portion of the pelvic or abdominal wall allows external bulging of a small segment of the intestines.

Some researchers have identified a subset of individuals with symptoms that are extremely similar to those associated with Marfan syndrome; however, these individuals have a mutation of a different gene (see Causes section below). Other researchers believe that these individuals have a disorder distinct from and, yet similar to, classic Marfan syndrome (called Loeys-Dietz syndrome). Such individuals may be at risk for more widespread aneurysms throughout the arterial tree and for aneurysms that tear or rupture at earlier ages and smaller dimensions when compared to classic Marfan syndrome. Distinguishing features of Loeys-Dietz syndrome are discussed below. People with a Marfan-like condition caused by mutations in a gene other than FBN1may require specialized counseling, imaging protocols and management.

Causes

Marfan syndrome is inherited as an autosomal dominant condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. In approximately 25-30 percent of Marfan syndrome cases, this mutation occurs as the result of a new mutation. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females.

Marfan syndrome has been linked to defects or disruptions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops the symptoms of Marfan syndrome.

Investigators have determined that most cases (> 95%) of Marfan syndrome occur due to mutation of the FBN1 gene located on the long arm (q) of chromosome 15 (15q21.1). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 15q21.1" refers to band 21.1 on the long arm of chromosome 15. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The FBN1 gene contains instructions for developing (encoding) a protein known as fibrillin-1. 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. Researchers believe fibrillin-1 plays an essential role in maintaining the strength and structural integrity of the connective tissue. Without fibrillin, connective tissue may be weak. Fibrillin-1 also influences the activity of a molecule that instructs cells how to behave (growth factor) called transforming growth factor-? (TGF-?).

A disorder that includes many features of Marfan syndrome called Loeys-Dietz syndrome (LDS) can be caused by mutations in four different genes that influence the activity of TGF-? (TGFBR2, TGFBR1, SMAD3 and TGFB2).

Affected Populations

Marfan syndrome affects males and females in equal numbers and occurs worldwide with no ethnic predisposition. The prevalence has been estimated to be 1 in 5-10,000 individuals in the general population. Because of the difficulty in diagnosing mild cases of Marfan syndrome, the disorder is probably underdiagnosed, making it difficult to determine its true frequency in the general population.

Related Disorders

Symptoms of the following disorders can be similar to those of Marfan syndrome. Comparisons are essential to arrive at a correct diagnosis..

Beals syndrome, also known as congenital contractural arachnodactyly, is an extremely rare genetic disorder characterized by the fixation of certain joints (e.g., fingers, elbows, knees, and hips) in a flexed position (contractures); abnormally long, slender fingers and toes (arachnodactyly); flexed fingers (camptodactyly); and/or abnormally shaped ears resulting in a "crumpled" appearance. Contractures of joints tend to improve with age in Beals syndrome. In addition, affected individuals may exhibit front-to-back and side-to-side curvature of the spine (kyphoscoliosis); feet that are abnormally positioned (talipes equinovarus or clubfoot); outward displacement of the fingers (ulnar deviation of the fingers); and an abnormally short neck. There are extremely rare reports of displacement of the lens of the eye (ectopia lentis) or severe heart abnormalities in patients with Beals syndrome. In some cases, affected individuals may have a deformity of the valve on the left side of the heart (mitral valve prolapse). Beals syndrome is inherited as an autosomal dominant trait and is caused by mutations in the FBN2 gene. (For more information on this disorder, choose "Beals" as your search term in the Rare Disease Database.)

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together and strengthening the tissues of the body. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, small blood vessels, and other bodily tissues and membranes. The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form's associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance. Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait. Only certain rare types of EDS include a predisposition for severe cardiovascular issues (such as vascular EDS); other types predominantly alter the skin and joints (e.g. hypermobile EDS). The type of EDS associated with life-threatening events (vascular EDS) is caused by mutations in the COL3A1 gene. These include enlargement and tear of any medium to large blood vessel throughout the body and a risk of rupture of hollow internal organs such as the intestines or pregnant uterus. Individuals with this condition do not typically show the outward features of MFS and are not at risk for the eye features of MFS. (For more information on this disorder, choose "Ehlers-Danlos" as your search term in the Rare Disease Database.)

Mitral valve prolapse syndrome (MVP) is a common condition in which one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left atrium during ventricular contraction (systole). In some cases, this may allow leakage or the backward flow of blood from the left ventricle back into the left atrium (mitral regurgitation). The exact underlying mechanism responsible for MVP remains unknown. In many affected individuals, the condition appears to occur in the absence of an associated disorder or syndrome (idiopathic). Evidence indicates that the condition is sometimes familial, suggesting autosomal dominant inheritance. In other cases, MVP occurs in association with certain inherited connective tissue diseases, other heart abnormalities, or other underlying conditions, disorders, or syndromes. In many individuals with MVP, no associated symptoms are apparent (asymptomatic). However, in other cases, the condition may result in chest pain, abnormal heart rhythms (arrhythmias), and signs of congestive heart failure.. MVP is often associated with a characteristic click and/or a murmur that may be detected through use of a stethoscope during physical examination. If leakage through the mitral valve (mitral regurgitation) is severe, the extra work that the heart has to perform can lead to poor performance of the heart muscle (heart failure). (For more information on this disorder, choose "mitral valve prolapse" as your search term in the Rare Disease Database.)

Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the blood and urine. The condition may result from deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid (cysteine) - or, less commonly, impaired conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. In most cases, homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase (CBS). Due to deficiency of the CBS enzyme, infants with homocystinuria may fail to grow and gain weight at the expected rate (failure to thrive) and have developmental delays. By approximately age three, additional, more specific symptoms and findings may become apparent. These may include dislocation (subluxation) of the lens of the eyes (ectopia lentis), associated "quivering" (iridodonesis) of the colored region of the eyes (iris), severe nearsightedness (myopia), and other eye (ocular) abnormalities. Although intelligence may be normal in some cases, many children may be affected by progressive mental retardation. In addition, some may develop psychiatric disturbances and/or episodes of uncontrolled electrical activity in the brain (seizures). Affected individuals also tend to be thin and somewhat tall; long, slender fingers and toes (arachnodactyly); and elongated arms and legs ("marfanoid" features) are common. Additional skeletal abnormalities may include progressive sideways curvature of the spine (scoliosis), abnormal protrusion or indentation of the breastbone (pectus carinatum or excavatum, respectively), and generalized loss of bone density (osteoporosis). In addition, in those with the disorder, blood clots tend to develop and can become lodged within certain large and small blood vessels (thromboembolism), potentially leading to life-threatening complications. Homocystinuria due to deficiency of CBS is inherited as an autosomal recessive trait, meaning that an affected person must inherit an abnormal copy of the gene from both parents, who each carry only a single abnormal gene and are therefore unaffected. Effective therapies are available for some forms of homocystinuria. (For more information on this disorder, choose "Homocystinuria" as your search term in the Rare Disease Database.)

Loeys-Dietz syndrome (LDS) is a rare disorder characterized by a variety of symptoms that overlap with Marfan syndrome. Individuals with Loeys-Dietz syndrome have skeletal and cardiovascular abnormalities. Affected individuals may experience bulging of the wall of the aorta (aneurysm), tearing (dissection) of the aorta or rupture of the aorta. Unlike Marfan syndrome, the aorta in individuals with Loeys-Dietz syndrome is prone to tearing or rupturing early in childhood and at a relatively small size. In Loeys-Dietz syndrome (but not Marfan syndrome) the blood vessels tend to follow a very winding course (tortuosity) and aneurysms and tears of blood vessels can occur throughout the entire arterial tree. Additional findings that may occur include long, slender fingers (arachnodactyly), abnormal curvature of the spine (scoliosis), a sunken or protruding chest (pectus excavatum or pectus carninatum), widening of the spinal sac (dural ectasia), and loose joints. Features seen in Loeys-Dietz that are not seen in Marfan syndrome include accumulation of excessive cerebrospinal fluid (CSF) in the skull causing pressure on the tissues of the brain (hydrocephalus), incomplete closure of the roof of the mouth (cleft palate), premature closure of the fibrous joints (sutures) between certain bones of the skull (craniosynostosis), bluish discoloration of the whites of the eyes (blue sclerae), deviation of one of the eyes outward away from the other eye (exotropia) and abnormally formed or unstable joints in the spine of the neck (cervical spine malformation or instability). The fleshy mass (uvula) hanging in the back of the throat may be unusually broad or split (bifid uvula). Characteristic facial features often include widely spaced eyes (hypertelorism), a highly-arched roof of the mouth (palate), an abnormally small jaw (micrognathia) that is recessed farther back than normal (retrognathia), and underdeveloped cheek bones (malar hypoplasia). Unlike Marfan syndrome, the skin in Loeys-Dietz syndrome can be soft with easily visible underlying veins (translucency). The skin also tends to bruise easily and to develop abnormal (wide) scars. People with Loeys-Dietz syndrome can be prone to severe allergies and to inflammation of the gastrointestinal tract (eosinophilic esophagitis or colitis). Loeys-Dietz syndrome is inherited as an autosomal dominant trait and is caused by mutations in any of the four genes that are all known to influence the activity of TGF-? (TGFBR1, TGFBR2, SMAD3 or TGFB2). It remains to be determined if all patients initially described as having MFS type II have discriminating features of Loeys-Dietz syndrome, and, most importantly, are at risk for the more severe vascular complications of Loeys-Dietz syndrome
Shprintzen-Goldberg syndrome (SGS) shares many features with Marfan syndrome and Loeys-Dietz syndrome including overgrowth of the long bones (dolichostenolelia), long and slender fingers (arachnodactyly), abnormal curvature of the spine (scoliosis), a sunken or protruding chest (pectus excavatum or pectus carninatum), widening of the spinal sac (dural ectasia), loose joints, wide spacing of the eyes (hypertelorism), premature fusion of the sutures of the skull (craniosynostosis) and a highly arched palate. While aortic root enlargement (aneurysm) can be seen in SGS, it is less frequent and typically less severe, when compared to MFS or LDS. Unlike either MFS or LDS, most people with SGS have at least some degree of developmental delay or intellectual disability. SGS is caused by mutations in the SKI gene that influences the activity of TGF-?.

Familial aortic aneurysm and/or tear (dissection) in the chest (thoracic) can occur in the absence of other abnormalities throughout the body (nonsyndromic). In some circumstances, affected individuals can show subtle cysts of the colored portion of the eye (iris floculi) or a visible capillary network below the skin with a honeycomb appearance (livido reticularis). A subset of people with this condition can have an aortic valve that forms with only two cusps (bicuspid aortic valve) instead of the normal three cusps (tricuspid aortic valve). The base of the aorta (aortic root) is the most common site of enlargement (aneurysm), but other aortic segments and even blood vessels outside of the chest can more rarely show involvement. This condition passes in families as a dominant trait (only one abnormal gene copy is required to show disease). The age at which problems arise tends to be later and more variable than in Marfan syndrome or Loeys-Dietz syndrome, and some people who inherit the gene abnormality might never show a vascular problem (incomplete penetrance). Aortic root aneurysms tend to tear or rupture at a size similar to that in Marfan syndrome, and many of the same management principles apply. There are many genes that cause nonsyndromic familial thoracic aortic aneurysm, and only a few have been identified.

Standard Therapies

Diagnosis
No universal, specific diagnostic test exists for Marfan syndrome despite the identification of the causative gene. A diagnosis is made based upon a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized test performed to identify key findings associated with Marfan syndrome. Different criteria have been proposed for classifying someone as having Marfan syndrome. The most recent published criteria (the revised Ghent nosology) were published in 2010. According to these guidelines, the presence of aortic root aneurysm, eye lens dislocation, or a family history of definite Marfan syndrome weigh heavily in the diagnosis of Marfan syndrome, with an additional potential contribution of other findings throughout the body. Molecular testing (e.g. looking for a mutation in the FBN1 gene) can aid in the diagnosis of Marfan syndrome, but identifying a mutation is not sufficient to establish the diagnosis in the absence of sufficient physical findings.

Individuals suspected of having Marfan syndrome will usually undergo a complete skeletal examination, a heart examination including a test that uses sound waves to produce images of the heart (echocardiogram), and a specialized examination of the eyes (slit-lamp eye examination). A slit-lamp allows an eye doctor to examine the eyes under high magnification to detect lens dislocation and other eye issues. It is essential that this comprehensive diagnostic evaluation be coordinated by someone very familiar with Marfan syndrome and related diagnoses.

Treatment
The treatment of Marfan syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists including geneticists, surgeons, cardiologists, dental specialists, eye specialists (ophthalmologists), orthopedists, and other healthcare professionals.

Individuals with Marfan syndrome are encouraged to avoid competitive and contact sports, heavy lifting and any exercise that increases the strain on the aorta produced by rapid or vigorous beating of the heart or increased blood pressure. Restriction of such activities can slow the rate of the widening of the aorta (aortic dilatation) and decrease the tendency for aortic tear (dissection). In general, moving types of exercises performed in moderation are thought to be good for people with Marfan syndrome. Such exercises, performed regularly, will naturally lower heart rate and blood pressure.

Beta-adrenergic blocking drugs such as propranalol and atenolol are often used in treating the cardiovascular problems associated with Marfan syndrome. Both drugs help to reduce the strength and frequency of the contractions of the heart. In doing so, they may reduce the strain on the walls of the aorta. Beta-blockers generally produce few side effects and may delay the need for heart surgery. The dosage needs to be adjusted to the individual patient’s needs, and therapy should be closely monitored. Some individuals may not be able to tolerate these drugs and others such as those with asthma may not be able to take them (contraindicated).

Every person with Marfan syndrome should have at least a yearly echocardiogram to check the size and function of the heart and aorta. Surgical repair of the aorta may eventually become necessary if the aorta has severely widened or developed a tear (dissection). Preventive (prophylactic) surgery is recommended when the diameter of the aorta reaches 5 centimeters in older children or adults, when the rate of widening reaches 1 centimeter a year, or when there is severe or progressive backflow (regurgitation) of blood through the aortic valve. Surgery may also be necessary for leakage of the mitral valve. Replacement of the aortic valve may be performed; however, this surgery requires the lifelong use of medications to prevent blood clots (anticoagulation). In recent years, some physicians have preferred to use valve-sparing surgery (i.e., reimplantation or remodeling of the aortic valve). Studies are underway to assess the durability of valve-sparing procedures.

Surgery to repair or replace the mitral valve in individuals who experience severe mitral valve regurgitation may become necessary as well. Cardiovascular problems related to Marfan syndrome increase affected individuals' susceptibility to repeated bacterial infections such as infections of the heart valves (bacterial endocarditis). Leaking heart valves are more prone to infection with bacteria. While it had been common practice to treat patients with leaking valves with antibiotics before dental work or other procedures expected to contaminate the blood stream with bacteria, the American Heart Association recently withdrew this recommendation for most people. Given the predisposition of people with Marfan syndrome and other connective tissue disorders to progressive leakage through multiple heart valves, many physicians who routinely care for such individuals continue to recommend that antibiotics be used.

Skeletal abnormalities such as scoliosis and deformity of the chest may represent serious problems for people with Marfan syndrome. Braces may be tried to correct skeletal curving (scoliosis) in some cases, but can be ineffective. Individuals with curvature of the spine of more than 10 degrees should be followed by an orthopedist. Surgical stabilization of the spine may be needed if the curvature is severe or progressive. A sunken chest (pectus excavatum) may be surgically corrected for cosmetic reason or, in rare severe cases, to avoid medical complications.

The eyes require careful attention (e.g., yearly ophthalmologic exams) from early childhood. Failure to detect any of the several abnormalities that can affect the eyes may result in poor vision and other visual impairment. Increased risk of retinal detachment does demand special attention. The eyes should receive special protection from injury during work or sports. Sports that may involve trauma to the head, such as football, boxing, and diving, should be avoided. Displacement of the lenses may be treated with eyeglasses or contact lenses. Some individuals such as those with a completely loose lens or with a displaced lens that disrupts vision may require surgical intervention. A detached retina may also be corrected through surgical reattachment.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Researchers are studying a variety of drugs including calcium channel blockers (such as verapamil), ACE inhibitors, and angiotensin receptor blockers (ARBs) such as losartan as potential alternatives to therapy with beta-blockers. More research is necessary to determine the long-term safety and effectiveness of these potential therapies for individuals with Marfan syndrome.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Contact for additional information about Marfan syndrome:

Hal Dietz, MD
Victor A. McKusick Professor of Medicine and Genetics
Investigator, Howard Hughes Medical Institute
Institute of Genetic Medicine
Departments of Pediatrics, Medicine, and Molecular Biology & Genetics
Johns Hopkins University School of Medicine
733 N. Broadway, BRB 539
Baltimore, MD 21205
(410) 614-0701
(410) 614-2256 (fax)
hdietz@jhmi.edu

Organizations related to Marfan Syndrome

References

TEXTBOOKS
Dietz H. Marfan Syndrome. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:218-9.

Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1608-9.

Jones KL. Ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:546.

JOURNAL ARTICLES
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476-485.

Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007;15:274-33.

Forteza A, Cortina JM, Sanchez V, et al. Aortic valve preservation in Marfan syndrome. Initial experience. Rev Esp Cardiol. 2007;60:471-5.

Ramirez F, Dietz HC. Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev. 2007;17:252-8.

Judge DP, Deitz HC. Marfan's syndrome. Lancet. 2005;366:1965-76.

Gott VL, Cameron DE, Alejo DE, et al. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg. 2002;73:438-43.

Le Parc JM, Molcard S Tubach F, et al. Marfan syndrome and fibrillin disorders. Joint Bone Surg. 2000;67:401-7.

Collod G, Babron M-C, Jondeau G, et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet. 1994;8:264-8.

Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337-9.

Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986;103:2499-509.

INTERNET
Chen H. Genetics of Marfan syndrome. Emedicine Journal. http://www.emedicine.com/ped/topic1372.htm. Updated Feb 20, 2013. Accessed Dec 26, 2013.

Channell K. Marfan syndrome. Emedicine Journal http://www.emedicine.com/orthoped/topic414.htm . Updated Sept 24, 2012. Accessed Dec 26, 2013.

Dietz HC. Marfan Syndrome. 2001 Apr 18 [Updated 2011 Dec 1]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1335. Accessed Dec 26, 2013.

Le Parc J-M. Marfan syndrome. Orphanet encyclopedia, March 2010. Available at: http://www.orpha.net/consor/cgi-bin/index.php Accessed Dec 26, 2013.

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Marfan Syndrome; MFS. Entry No: 154700. Last Edited 04/17/2013. Available at: http://www.ncbi.nlm.nih.gov/omim/ Accessed Dec 26, 2013.

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Loeys-Dietz Syndrome, Type 2B; LDS2B (Marfan Syndrome, Type II, Formerly). Entry No: 610380. Last Updated 03/09/2011. Available at: http://www.ncbi.nlm.nih.gov/omim/ Accessed Dec 26, 2013.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2014/01/27 00:00:00 GMT+0

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