Marfan syndrome

Common Name(s)

Marfan syndrome

Marfan syndrome is a genetic disorder affecting the body’s connective tissues, which help provide strength and flexibility to many parts of the body, including muscles, blood vessels, heart valves, and bones. The two main features of Marfan syndrome affect the heart and eyes. Specifically, the main artery carrying blood away from the heart (aorta) can widen over time (aortic aneurysm). This widening can cause the vessel to tear (aortic dissection). People with Marfan syndrome can also have dislocation of the lenses in their eyes (ectopia lentis), which can cause vision problems. Other features of Marfan syndrome include a long narrow face, a curved spine (scoliosis), a sunken or protruding chest, flat feet, flexible joints, and crowded teeth. People with Marfan syndrome may also have a total length of both arms (wingspan) that is longer than their height.

Marfan syndrome is caused by a mutation (change) in the FBN1 gene. This gene acts as an instruction for the body to make fibrillin-1, a protein that helps strengthen parts of the body while also controlling the release of growth factors into the blood. When a person has a mutation in the FBN1 gene, it causes parts of their body to be weaker than normal and also causes them to grow faster than they should. This combination is what causes the features of this condition. Marfan syndrome is inherited in an autosomal dominant way, which means a mutation in only one of the two copies of the gene a person has is enough to cause Marfan syndrome.

Marfan syndrome is suspected in a person with an enlarged aorta or dislocated lenses. Certain physical features can be seen on a physical exam, which can also suggest Marfan syndrome. The diagnosis is confirmed with genetic testing. Although there is no cure for Marfan syndrome, there are options to address many of the symptoms. In some cases, surgery may be needed. Support groups are available for support and more information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marfan syndrome" for support, advocacy or research.

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Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

Last Updated: 22 Jan 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

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The Marfan Foundation

The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related disorders. •We pursue the most innovative research and make sure that it receives proper funding. •We create an informed public and educated patient community to increase early diagnosis and ensure life-saving treatment. •We provide relentless support to families, caregivers, and healthcare providers. We will not rest until we’ve achieved victory—a world in which everyone with Marfan syndrome or a related disorder receives a proper diagnosis, gets the necessary treatment, and lives a long and full life.

Last Updated: 13 Nov 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marfan syndrome" for support, advocacy or research.

Logo
Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

http://www.marfan.ca

Last Updated: 22 Jan 2013

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Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

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The Marfan Foundation

The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related disorders. •We pursue the most innovative research and make sure that it receives proper funding. •We create an informed public and educated patient community to increase early diagnosis and ensure life-saving treatment. •We provide relentless support to families, caregivers, and healthcare providers. We will not rest until we’ve achieved victory—a world in which everyone with Marfan syndrome or a related disorder receives a proper diagnosis, gets the necessary treatment, and lives a long and full life.

http://www.marfan.org

Last Updated: 13 Nov 2013

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General Resources

 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Marfan syndrome" returned 390 free, full-text research articles on human participants. First 3 results:

Premature aortic smooth muscle cell differentiation contributes to matrix dysregulation in Marfan Syndrome.
 

Author(s): Matthew Dale, Matthew P Fitzgerald, Zhibo Liu, Trevor Meisinger, Andrew Karpisek, Laura N Purcell, Jeffrey S Carson, Paul Harding, Haili Lang, Panagiotis Koutakis, Rishi Batra, Constance J Mietus, George Casale, Iraklis Pipinos, B Timothy Baxter, Wanfen Xiong

Journal:

 

Thoracic aortic aneurysm and dissection are life-threatening complications of Marfan syndrome (MFS). Studies of human and mouse aortic samples from late stage MFS demonstrate increased TGF-β activation/signaling and diffuse matrix changes. However, the role of the aortic smooth muscle ...

Last Updated: 17 Oct 2017

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Biometric and structural ocular manifestations of Marfan syndrome.
 

Author(s): Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow

Journal:

 

To study biometric and structural ocular manifestations of Marfan syndrome (MFS).

Last Updated: 20 Sep 2017

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Sex, pregnancy and aortic disease in Marfan syndrome.
 

Author(s): Marjolijn Renard, Laura Muiño-Mosquera, Elise C Manalo, Sara Tufa, Eric J Carlson, Douglas R Keene, Julie De Backer, Lynn Y Sakai

Journal:

 

Sex-related differences as well as the adverse effect of pregnancy on aortic disease outcome are well-established phenomena in humans with Marfan syndrome (MFS). The underlying mechanisms of these observations are largely unknown.

Last Updated: 14 Jul 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Marfan syndrome" returned 46 free, full-text review articles on human participants. First 3 results:

Marfan Syndrome: new diagnostic criteria, same anesthesia care? Case report and review.
 

Author(s): Maria Rita Araújo, Céline Marques, Sara Freitas, Rita Santa-Bárbara, Joana Alves, Célia Xavier

Journal: Braz J Anesthesiol. ;66(4):408-13.

 

Marfan's Syndrome (MFS) is a disorder of connective tissue, mainly involving the cardiovascular, musculoskeletal, and ocular systems. The most severe problems include aortic root dilatation and dissection. Anesthetic management is vital for the improvement on perioperative morbidity.

Last Updated: 26 Jun 2016

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Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
 

Author(s): Octavio D Reyes-Hernández, Carmen Palacios-Reyes, Sonia Chávez-Ocaña, Enoc M Cortés-Malagón, Patricia Garcia Alonso-Themann, Víctor Ramos-Cano, Julián Ramírez-Bello, Mónica Sierra-Martínez

Journal:

 

FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic ...

Last Updated: 15 Feb 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

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Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
 

Status: Not yet recruiting

Condition Summary: Marfan Syndrome

 

Last Updated: 25 Oct 2017

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Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

Condition Summary: Marfan Syndrome; Marfan Related Disorders; Control Subjects

 

Last Updated: 4 Jan 2017

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