BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuMarfan syndromeAortic aneurysm - MarfanMarfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Causes Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.Other areas of the body that are affected include:Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung) The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm) The heart valves The eyes, causing cataracts and other problems (such as a dislocation of the lenses) The skin Tissue covering the spinal cord The jointsIn most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change. Symptoms People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out. Other symptoms include:A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum) Pectus excavatumPectus excavatum is a medical term that describes an abnormal formation of the rib cage that gives the chest a caved-in or sunken appearance....ImageRead Article Now Book Mark Article Pectus carinatumPectus carinatum is present when the chest protrudes over the sternum. It is often described as giving the person a bird-like appearance.ImageRead Article Now Book Mark Article Flat feet Highly arched palate and crowded teeth Hypotonia of muscles (low muscle tone) HypotoniaHypotonia means decreased muscle tone.ImageRead Article Now Book Mark Article Joints that are too flexible (but the elbows may be less flexible) Learning disability Movement of the lens of the eye from its normal position (dislocation) Nearsightedness Small lower jaw (micrognathia) Spine that curves to one side (scoliosis) ScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Thin, narrow face Many people with Marfan syndrome suffer from chronic muscle and joint pain. Exams and Tests The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of:Aneurysm AneurysmAn aneurysm is an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel. A thoracic aortic aneury...ImageRead Article Now Book Mark Article Collapsed lung Heart valve problems An eye exam may show:Defects of the lens or cornea Retinal detachment Retinal detachmentRetinal detachment is a separation of the light-sensitive membrane (retina) in the back of the eye from its supporting layers.ImageRead Article Now Book Mark Article Vision problems The following tests may be performed:Echocardiogram EchocardiogramAn echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...ImageRead Article Now Book Mark Article Fibrillin-1 mutation testing (in some people) An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves. Depending on the results, you may need this test less often than yearly. Treatment Vision problems should be treated when possible.Monitor for scoliosis, especially during the teenage years.Medicine to slow the heart rate and lower blood pressure may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition may have to modify their activities. Some people may need surgery to replace the aortic root and valve.Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta. Support Groups The Marfan Foundation -- marfan.org Outlook (Prognosis) Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan. Possible Complications Complications may include:Aortic regurgitation Aortic regurgitationAortic regurgitation is a heart valve disease in which the aortic valve does not close tightly. This allows blood to flow from the aorta (the larges...ImageRead Article Now Book Mark Article Aortic rupture Bacterial endocarditis Dissecting aortic aneurysm Dissecting aortic aneurysmAortic dissection is a serious condition in which there is a tear in the wall of the major artery carrying blood out of the heart (aorta). As the te...ImageRead Article Now Book Mark Article Enlargement of the base of the aorta Heart failure Heart failureHeart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...ImageRead Article Now Book Mark Article Mitral valve prolapse Scoliosis Vision problems When to Contact a Medical Professional Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family. Prevention Spontaneous new gene mutations leading to Marfan (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.Open ReferencesReferencesDoyle JJ, Doyle AJ, Dietz HC. Marfan syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 722.Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2021:chap 1.Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 244.AllVideoImagesTogPectus excavatum - illustration Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. It is sometimes called funnel chest. The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.Pectus excavatumillustrationMarfan syndrome - illustration Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.Marfan syndromeillustrationPectus excavatum - illustration Pectus excavatum is a condition in which the breast bone (sternum) appears sunken and the chest concave. It is sometimes called funnel chest. The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.Pectus excavatumillustrationMarfan syndrome - illustration Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.Marfan syndromeillustrationRelated Information Cardiovascular(Special Topic)Aortic regurgitation(Condition)Aortic dissection(Condition)Heart failure(Condition)Aortic valve surgery - open(Surgery)Mitral valve surgery - minimally invasive(Surgery)Mitral valve surgery - open(Surgery)Heart failure - InDepth(In-Depth) Review Date: 5/8/2022 Reviewed By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Marfan syndromeAortic aneurysm - MarfanMarfan syndrome is a disorder of connective tissue. This is the tissue that strengthens the body's structures.Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Causes Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.Other areas of the body that are affected include:Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung) The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm) The heart valves The eyes, causing cataracts and other problems (such as a dislocation of the lenses) The skin Tissue covering the spinal cord The jointsIn most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change. Symptoms People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out. Other symptoms include:A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum) Pectus excavatumPectus excavatum is a medical term that describes an abnormal formation of the rib cage that gives the chest a caved-in or sunken appearance....ImageRead Article Now Book Mark Article Pectus carinatumPectus carinatum is present when the chest protrudes over the sternum. It is often described as giving the person a bird-like appearance.ImageRead Article Now Book Mark Article Flat feet Highly arched palate and crowded teeth Hypotonia of muscles (low muscle tone) HypotoniaHypotonia means decreased muscle tone.ImageRead Article Now Book Mark Article Joints that are too flexible (but the elbows may be less flexible) Learning disability Movement of the lens of the eye from its normal position (dislocation) Nearsightedness Small lower jaw (micrognathia) Spine that curves to one side (scoliosis) ScoliosisScoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...ImageRead Article Now Book Mark Article Thin, narrow face Many people with Marfan syndrome suffer from chronic muscle and joint pain. Exams and Tests The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of:Aneurysm AneurysmAn aneurysm is an abnormal widening or ballooning of a portion of an artery due to weakness in the wall of the blood vessel. A thoracic aortic aneury...ImageRead Article Now Book Mark Article Collapsed lung Heart valve problems An eye exam may show:Defects of the lens or cornea Retinal detachment Retinal detachmentRetinal detachment is a separation of the light-sensitive membrane (retina) in the back of the eye from its supporting layers.ImageRead Article Now Book Mark Article Vision problems The following tests may be performed:Echocardiogram EchocardiogramAn echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...ImageRead Article Now Book Mark Article Fibrillin-1 mutation testing (in some people) An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves. Depending on the results, you may need this test less often than yearly. Treatment Vision problems should be treated when possible.Monitor for scoliosis, especially during the teenage years.Medicine to slow the heart rate and lower blood pressure may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition may have to modify their activities. Some people may need surgery to replace the aortic root and valve.Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta. Support Groups The Marfan Foundation -- marfan.org Outlook (Prognosis) Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan. Possible Complications Complications may include:Aortic regurgitation Aortic regurgitationAortic regurgitation is a heart valve disease in which the aortic valve does not close tightly. This allows blood to flow from the aorta (the larges...ImageRead Article Now Book Mark Article Aortic rupture Bacterial endocarditis Dissecting aortic aneurysm Dissecting aortic aneurysmAortic dissection is a serious condition in which there is a tear in the wall of the major artery carrying blood out of the heart (aorta). As the te...ImageRead Article Now Book Mark Article Enlargement of the base of the aorta Heart failure Heart failureHeart failure is a condition in which the heart is no longer able to pump oxygen-rich blood to the rest of the body efficiently. This causes symptom...ImageRead Article Now Book Mark Article Mitral valve prolapse Scoliosis Vision problems When to Contact a Medical Professional Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family. Prevention Spontaneous new gene mutations leading to Marfan (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.Open ReferencesReferencesDoyle JJ, Doyle AJ, Dietz HC. Marfan syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 722.Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2021:chap 1.Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 244.