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.

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.

Last Updated: 22 Jan 2013

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

 
 
Top

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

The Prevalence of Marfan Syndrome in Korea.
 

Author(s): Shin Yi Jang, Su Ra Seo, Seung Woo Park, Duk Kyung Kim

Journal: J. Korean Med. Sci.. 2017 Apr;32(4):576-580.

 

The aim of this study was to assess the prevalence of Marfan syndrome (MFS) in Korean adults. Data were collected from the National Health Insurance Service in Korea from 2006 through 2013. The data consisted of primary diagnoses related to MFS (Q87.4) diagnosed according to the 10th ...

Last Updated: 28 Feb 2017

Go To URL
Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.
 

Author(s): Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon

Journal: J. Korean Med. Sci.. 2017 Jan;32(1):1-3.

 

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, ...

Last Updated: 3 Dec 2016

Go To URL
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.
 

Author(s): Yohei Akazawa, Noriko Motoki, Akira Tada, Shoko Yamazaki, Akira Hachiya, Satoshi Matsuzaki, Motoko Kamiya, Tomohiko Nakamura, Tomoki Kosho, Yuji Inaba

Journal: Circ. J.. 2016 Oct;80(11):2369-2375.

 

The characteristics of aortic elasticity are unclear in children with connective tissue disorders (CTDs) such as Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS), especially in those with a non-dilated aortic root (AoR). This study evaluated the aortic elasticity properties of ...

Last Updated: 13 Oct 2016

Go To URL

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 45 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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

Go to URL
Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

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

 

Last Updated: 4 Jan 2017

Go to URL
The Oxford Marfan Trial
 

Status: Recruiting

Condition Summary: Marfan Syndrome

 

Last Updated: 8 Jun 2015

Go to URL