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Marfan Syndrome

Important
It is possible that the main title of the report Marfan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms

* Arachnodactyly
* Contractural Arachnodactyly
* Dolichostenomelia
* Marfanoid Hypermobility Syndrome

Disorder Subdivisions

* None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

* Acromegaly
* Ehlers-Danlos Syndrome
* Homocystinuria
* Beals Syndrome
* Cohen Syndrome

General Discussion

Marfan syndrome is an inherited disorder that affects the connective tissue of the heart and blood vessels (cardiovascular system). The musculoskeletal system (ligaments and muscles) and ocular system (eyes) are also affected. Major symptoms also include unusual height, large hands and feet, and involvement of the lungs. Symptoms vary greatly among affected individuals. Marfan syndrome is inherited as an autosomal dominant trait.
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Symptoms

People with Marfan syndrome are often, but not always, unusually tall and thin. Both the face and the limbs may be abnormally long. Other features may include excessive joint mobility, flat feet, muscle weakness (hypotonia), a protruding or indented breast bone (sternum) and curvature of the spine (scoliosis). The teeth may be crowded because of an abnormally high palate. Stretch marks (striae) may appear on the skin in areas where there has been no rapid weight gain or loss.

Individuals with Marfan syndrome may have significant cardiovascular problems. The most common of these is mitral valve prolapse, which is often without symptoms. Mitral valve prolapse is characterized by the incomplete closure of the heart valve, resulting in backward flow of blood in the heart. Enlargement and degeneration of the main artery that carries blood away from the heart (aorta), aortic aneurysm (a bulge of the wall of the aorta), and aortic regurgitation (backward flow of blood) are also common. If left untreated, life-threatening complications may occur.

About 50 percent of individuals with Marfan syndrome experience an abnormal displacement of the lens within the eyes (ectopia lentis). Another major symptom is nearsightedness (myopia). Other findings that relate to the eye may include an increased axial globe length, flatness of the cornea, glaucoma, cataract and occasionally retinal detachment. These conditions are diagnosed by a physician who specializes in eye diseases (ophthalmologist).

Emphysema, which causes destructive changes and the loss of elasticity of the lungs, is a rare complication of Marfan syndrome. A collapsed lung (pneumothorax) occurs in 5 percent of affected individuals, either spontaneously or traumatically, and requires immediate attention.

A condition known as "dural ectasia," or a bulging of the sac that surrounds the spinal cord, is another finding in Marfan syndrome. Although rare in the general population, that condition is believed to be far more prevalent among individuals with Marfan syndrome. As a result, magnetic resonance imaging or CT scan of the spine, which would show whether the dural sac is bulging, may be helpful in early diagnosis, even among young patients who do not yet exhibit other symptoms.
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Causes

Marfan syndrome is inherited as an autosomal dominant trait. In dominant disorders, a single, abnormal copy of the disease gene (received from either the mother or father) is sufficient to result in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. Approximately 75% of people with Marfan syndrome inherit it from a parent. In about one-quarter of the cases it results from new genetic changes (mutations) that occur spontaneously for unknown reasons (spontaneous mutation).

The single gene that causes this disorder has been located on chromosome 15. Penetrance is complete but expression of symptoms (clinical manifestations) may be variable. Penetrance is the regularity with which an inherited trait expresses symptoms in a person who carries the gene.

Scientists have found that the fibrillin-1 gene (which encodes a protein in connective tissue) is the site of mutations (changes) in individuals with Marfan syndrome. Each family seems to have its own unique change in the fibrillin-1 gene. Recent research suggests that the variation of symptoms in some families may be due to different genetic alterations rather than a single change (mutation) in the fibrillin gene.

The exact nature of the connective tissue abnormalities that are present in individuals with Marfan syndrome is not well understood by scientists.
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Affected Populations

Marfan syndrome affects males and females in equal numbers. In the United States, about 200,000 individuals have the disorder.
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Related Disorders

Findings in the following disorders can be similar to those of Marfan syndrome. Comparisons may be useful for a differential diagnosis:

Ehlers-Danlos Syndrome (EDS) describes a group of inherited disorders of connective tissue. The various forms are labeled I to X and the symptoms vary according to the form of the disease, which always effects the joints and skin. Characteristic symptoms include very elastic, fragile skin and a tendency toward easy bruising and bleeding. Another major symptom is the ability to flex the joints beyond their normal range (hyperextensibility). Some people with a rare form of EDS may be at risk for arterial rupture. (For more information on this disorder, choose "Ehlers-Danlos Syndrome" as your search term in the Rare Disease Database.)

Homocystinuria is a rare metabolic disorder that is characterized by an abnormal amount of homocystine and methionine in the blood, cerebrospinal fluid and the urine. The symptoms of this disorder include abnormal displacement of the lens of the eyes (ectopia lentis), cataracts, a thinning of the bones (osteoporosis), mental retardation, blood clots, and mitral valve prolapse. Patients with Homocystinuria have the signs and symptoms of Marfan syndrome such as an elongated body and extremities, a depression of the breast bone, and MVP. (For more information on this disorder, choose "Homocystinuria" as your search term in the Rare Disease Database.)

Beals Syndrome is a rare inherited connective tissue disorder. The major features of this disorder include long, thin, "spider-like" fingers and toes; joints that are in the bent position from birth; and deformity of the ears that causes a "crumpled" appearance. Generally the joints that are affected are the fingers, elbows, knees and ankles. There may be severe curvature of the spine (kyphoscoliosis), an abnormality of the breast bone (pectus deformity) and MVP. (For more information on this disorder, choose "Beals Syndrome" as your search term in the Rare Disease Database.)
Ectopia lentis is an eye (ocular) abnormality characterized by shifting or tilting (i.e., partial displacement) or complete displacement of the lens of the eye. The condition may be present at birth (congenital), be progressive, or occur due to trauma. In those with ectopia lentis, associated symptoms and findings may include blurring of vision, double vision (diplopia), and unusual, quivering movements of the iris (iridodonesis). In some instances, ectopia lentis may be a hereditary condition that occurs as an isolated finding (simple ectopia lentis). In such cases, the condition may be present at birth or develop later during life. Simple ectopia lentis is usually inherited as an autosomal dominant trait. In addition to Weill-Marchesani syndrome, ectopia lentis may also occur in association with other underlying genetic disorders, including Marfan syndrome and homocystinuria, a metabolic disorder. (For further information on these disorders, choose "Weill-Marchesani" or "homocystinuria" as your search terms in the Rare Disease Database.)

Familial Thoracic Aortic Aneurysm is a condition characterized by the swelling (dilation) of the aorta (the body’s main and largest artery) as it passes through the chest (thorax). This form of aortic aneurysm accounts for about 50% of all aneurysms. The dilation of any arterial wall is called an aneurysm and results in stretching, stressing, and weakening of the wall. One form of aneurysm affects the aorta as it leaves the heart. The associated swelling may cause the valve between the heart and the aorta to leak. Hence, blood flows back into the heart when the valve is closed. About 50% of people with this form of aneurysm have Marfan’s syndrome or a variation of it.
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Standard Therapies

Diagnosis
Early diagnosis is crucial to avoid or delay the possible heart problems that may be associated with Marfan syndrome.

The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all the signs and complications of the syndrome.

An accurate diagnosis of the Marfan syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder. This includes:

Echocardiogram, a sound wave picture of the heart by cardiologist
Slit-lamp eye examination by an ophthalmologist
Skeletal examination by an orthopedist or a medical geneticist
Complete family history

Treatment
All Marfan syndrome patients should avoid competitive and contact sports, heavy lifting and any exercise that increases the strain on the aorta produced by vigorous beating of the heart. Beta-adrenergic blocking drugs such as propranalol and atenolol have proven useful in treating the cardiovascular problems. 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 aorta. Beta-blockers generally produce few side effects and may delay, or possibly prevent the need for heart surgery. The dosage needs to be adjusted to the individual patients needs, and therapy should be closely monitored. However, surgical replacement of the aorta may eventually become necessary.

In the skeletal system, scoliosis and deformity of the chest may represent a serious problem for people with Marfan syndrome. Curvatures of the spine of more than 10 degrees should be referred to an orthopedic surgeon for correct management. Some children have been treated with hormones such as estrogen to accelerate the growth cycle and the onset of puberty. Hormonal treatment has been most effective in females. Although medical side effects are generally minimal and adult height may be reduced by this treatment, the child must deal with the social and psychologic difficulties of becoming sexually mature before his or her peers.

Deformities of the sternum in patients with Marfan syndrome (both protruding and inverted breast deformities) may be corrected surgically. Repair of a chest deformity is best delayed until mid-adolescence at the earliest.

The eyes require careful attention 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.

Every person with Marfan syndrome should have a yearly echocardiogram to check the size and function of the heart and aorta. Impaired functioning of the heart valves may respond to various cardiac medications. However, surgery may be necessary to replace a valve and/or portions of the aorta to prevent a tear or rupture. The success rate of this preventive surgery is excellent.

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

Cardiovascular problems related to Marfan syndrome increase affected individuals’ susceptibility to repeated bacterial infections. It is recommended that antibiotics be used in individuals with valve leakage to avoid possible complications. Antibiotics should also be administered before dental work and other procedures expected to contaminate the blood with bacteria.
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Investigational Therapies

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 website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

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

Other beta-adrenergic blocking drugs and other pharmaceutical agents are being investigated as possible therapies for the cardiovascular symptoms of Marfan syndrome. Basic research is being conducted on the cause of Marfan Syndrome, including studies of the biochemistry of connective tissue. Scientists are also studying the nature of the genetic defect that cause this disorder and are developing new surgical procedures to help improve cardiac health. Additionally, they are studying and evaluating the usefulness of certain medications used for problems with the aorta.

The National Human Genome Research Institute (NHGRI) completed a study in 2002 wherein the research team recruited Marfan syndrome patients (in addition to patients with other conditions) in order to identify the genes responsible for inherited connective tissue disorders and to learn about the range of medical problems that they cause. The study investigated whether specific gene changes cause specific medical problems and will help to establish more definitive diagnostic criteria (signs and symptoms) for the individual syndromes.
References

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 154700; Last Update: 7/18/2001.

TEXTBOOKS
Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1119-20.

Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2406-07.

Berkow R, ed. The Merck Manual-Home Edition. Whitehouse Station, NJ: Merck Research Laboratories; 1997:1306-07.

Scriver CR, et al., eds. The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. New York, NY; McGraw-Hill Companies, Inc; 1995:4079-80.

REVIEW ARTICLES
Aburawi EH, O’Sullivan J, Hasan A. Marfan’s syndrome: a review. Hosp Med. 2001;62:153-57.

Milewicz DM, Urban Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biol. 2000;19:471-80.

Peyritz RE. The Marfan syndrome. Annu Rev Med. 2000;51;481-510.

Milewicz DM. Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. Curr Opin Cardiol. 1998;13:198-204.

Safi HJ, Vinnerkvist A, Bhama JK, et al. Aortic heart disease in Marfan Syndrome. Curr Opin Cardiol. 1998;13:91-95.

JOURNAL ARTICLES
Loeys B, Nuytinck L, Van Acker P, et al. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Prenat Diagn. 2002;22:22-28.

Loeys B, Nuytinck L, Delvaux I, et al. Genotype and phenotype analysis referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001;161:2447-54.

Alexiou C, Langley SM, Charlesworth P, et al. Aortic root replacement inpatients with marfan’s syndrome: the Southampton experience. AnnThorac Surg. 2001;72:1502-07; discussion 1508.

Peters KF, Kong F, Horne R, et al. Living with Marfan syndrome I. Perceptions of the condition.
Clin Genet. 2001;60:273-82.

Peters KF, Horne R, Kong F, et al. Living with Marfan syndrome II. Medication adherence and physical activity modification. Clin Genet. 2001;60:283-92.

David TE. Aortic valve-sparing operations for aortic root aneurysm. Semin Thorac Cardiovasc Surg. 2001;13:291-96.

Fattori R, Bacchi Regiana L, Pepe G, et al. Magnetic resonance imaging evaluation of aortic elastic properties as early expression of Marfan syndrome. J Cardiovasc Magn Reson. 2000;2:251-56.

Lind J, Wallenburg HC. The Marfan syndrome and pregnancy: a retrospective study in a Danish population. Eur J Obstet Gynecol Reprod Biol. 2001;98:28-35.

Gott VL, Greene PS, Alejo DE, et al. Replacement of the aortic root in patients with marfan’s syndrome. New Eng J Med. 1999;340:1307-13.

Gary JR, Bridges AB, West RR, et al. Life expectancy in British Marfan syndrome populations. Clin Genet. 1998;54:124-28.

De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417-26.

Rantamaki T, Raghunath M, Kartunnen L, et al. Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. Prenat Diagn. 1995;15:1176-81.
Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
TDD: (914)997-4764
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050-2023
USA
Tel: 5168838712
Fax: 5168838040
Tel: 8008627326
Email: staff@marfan.org
Internet: http://www.marfan.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: niamsinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

British Coalition of Heritable Disorders of Connective Tissue
Rochester House
5 Aldershot Road
Fleet
Hampshire, GU13 9NG
United Kingdom
Tel: 01252 810472
Fax: 01252 810473
Internet: http://www.Business-Partners.co.uk/marfan

Marfan Association UK
Rochester House
5 Aldershot Road
Fleet
Hampshire, GU51 3NG
United Kingdom
Tel: 01252 810472
Fax: 01252 810473
Email: marfan@tinyonline.co.uk
Internet: http://www.marfan.org.uk

Canadian Marfan Association
Centre Plaza Postal Outlet
128 Queen Street South
P.O. Box 42257
Mississauga
Ontario, L5M 4Z0
Canada
Tel: 9058263223
Fax: 9058262125
Tel: 8667221722
Email: info@marfan.ca
Internet: http://www.marfan.ca

Danish Alliance for Rare Disorders (KMS)
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: kms@kms-danmark.dk
Internet: http://www.kms-danmark.dk

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 2/9/2005
Copyright 1984, 1985, 1987, 1988, 1989, 1990, 1992, 1994, 1995, 1997, 1999, 2002, 2003 National Organization for Rare Disorders, Inc.

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