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

Human embryonic stem cells derived from abnormal blastocyst donated by Marfan syndrome patient.
 

Author(s): Qingqing Yang, Xiaoying Zhou, Hao Zhou, Long Li, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang

Journal: Stem Cell Res. 2015 Nov;15(3):640-2.

 

Human embryonic stem cell (hESC) line was derived from abnormal blastocyst donated by Marfan syndrome patient after preimpantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that the hESC line carried the heterozygous deletion mutation, c.3536delA, of FBN1 ...

Last Updated: 18 Mar 2016

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Last Updated: 1 Mar 2016

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Estrogen-mediated Height Control in Girls with Marfan Syndrome.
 

Author(s): Dong-Yun Lee, Hye Sun Hyun, Rimm Huh, Dong-Kyu Jin, Duk-Kyung Kim, Byung-Koo Yoon, DooSeok Choi

Journal: J. Korean Med. Sci.. 2016 Feb;31(2):275-9.

 

This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment for height control were included. Estradiol valerate was started at a dose of 2 mg/day, ...

Last Updated: 3 Feb 2016

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

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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Effect of periodontitis on cardiovascular manifestations in Marfan syndrome. Critical common role of TGF-β.
 

Author(s): Jun-ichi Suzuki, Norio Aoyama, Yuichi Izumi, Mitsuaki Isobe, Issei Komuro, Yasunobu Hirata

Journal: Int Heart J. 2015 ;56(2):121-4.

 

Marfan syndrome (MFS) is a systemic connective tissue disorder that is caused by mutations in the extracellular matrix protein fibrillin-1. While MFS patients are considered to be at high risk of dental disorders and cardiovascular complications, little causal relationship has been ...

Last Updated: 23 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

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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: 27 May 2014

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