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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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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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 417 free, full-text research articles on human participants. First 3 results:

Long-term follow-up after scleral lens fixation in patients with Marfan syndrome.
 

Author(s): Jan Luebke, Thomas Reinhard, Hansjuergen Agostini, Daniel Boehringer, Philipp Eberwein

Journal:

 

The dislocation of the crystalline lens is a common finding in patients with Marfan syndrome (MFS). Scleral intraocular lens (IOL) fixation is an accepted treatment method of this complication. To now, no long-term data on scleral IOL fixation in MFS exist.

Last Updated: 31 Dec 1969

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Association between malignancies and Marfan syndrome: a population-based, nested case-control study in Taiwan.
 

Author(s): Chin-Wang Hsu, Jen-Chun Wang, Wen-I Liao, Wu-Chien Chien, Chi-Hsiang Chung, Chang-Huei Tsao, Yung-Fu Wu, Min-Tser Liao, Shih-Hung Tsai

Journal:

 

Marfan syndrome (MFS) involves a deficiency of the structural extracellular matrix component fibrillin-1 and overactivation of the transforming growth factor-β (TGF-β) signalling pathway. The TGF-β signalling pathway also actively participates in malignant transformation. Although ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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 48 free, full-text review articles on human participants. First 3 results:

[Marfan syndrome in childhood and adolescence].
 

Author(s): S Magotteaux, S Bulk, N Farhat, N Sakalihasan, J-O Defraigne, M-Ch Seghaye

Journal: Rev Med Liege. 2016 Jul;71(7-8):342-348.

 

The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
 

Author(s): Qian Peng, Yan Deng, Yuan Yang, Hanmin Liu

Journal:

 

Marfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). Neonatal Marfan syndrome (nMFS) is rare and the most severe form of MFS, involving rapidly progressive cardiovascular dysfunction leading to death ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Not yet recruiting

Condition Summary: Marfan Syndrome

 

Last Updated: 2 Feb 2018

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Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond
 

Status: Recruiting

Condition Summary: Marfan Syndrome

 

Last Updated: 12 Jun 2018

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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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