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

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
 

Author(s): Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, Svend Rand-Hendriksen, Odd Geiran, Eirik Frengen, Benedicte Paus

Journal:

 

Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutations, identified in FBN1 in MFS patients with systematically described phenotypes, ...

Last Updated: 19 Dec 2015

Go To URL
The Beneficial Effect of Renin-Angiotensin-Aldosterone System Blockade in Marfan Syndrome Patients after Aortic Root Replacement.
 

Author(s): Seung Jun Lee, Jaewon Oh, Young Guk Ko, Sak Lee, Byung Chul Chang, Do Yun Lee, Young Ran Kwak, Donghoon Choi

Journal: Yonsei Med. J.. 2016 Jan;57(1):81-7.

 

In this study, we evaluated the long term beneficial effect of Renin-Angiotensin-Aldosterone System (RAAS) blockade therapy in treatment of Marfan aortopathy.

Last Updated: 3 Dec 2015

Go To URL
Prevalence, incidence, and age at diagnosis in Marfan Syndrome.
 

Author(s): Kristian A Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R Østergaard, Niels H Andersen, Claus H Gravholt

Journal:

 

Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria ...

Last Updated: 3 Dec 2015

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

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

Go To URL
Surgical management of aortic root disease in Marfan syndrome and other congenital disorders associated with aortic root aneurysms.
 

Author(s): Tom Treasure, J J M Takkenberg, John Pepper

Journal: Heart. 2014 Oct;100(20):1571-6.

 

Elective root replacement in Marfan syndrome has improved life expectancy in affected patients. Three forms of surgery are now available: total root replacement (TRR) with a valved conduit, valve sparing root replacement (VSRR) and personalised external aortic root support (PEARS) ...

Last Updated: 31 Dec 2014

Go To URL
Medical treatment of aortic aneurysms in Marfan syndrome and other heritable conditions.
 

Author(s): Christine H Attenhofer Jost, Matthias Greutmann, Heidi M Connolly, Roland Weber, Marianne Rohrbach, Angela Oxenius, Oliver Kretschmar, Thomas F Luscher, Gabor Matyas

Journal: Curr Cardiol Rev. 2014 May;10(2):161-71.

 

Thoracic aortic aneurysms can be triggered by genetic disorders such as Marfan syndrome (MFS) and related aortic diseases as well as by inflammatory disorders such as giant cell arteritis or atherosclerosis. In all these conditions, cardiovascular risk factors, such as systemic arterial ...

Last Updated: 14 Oct 2014

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

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

 

Last Updated: 27 May 2014

Go to URL

Last Updated: 23 Jun 2016

Go to URL

Last Updated: 8 Jun 2010

Go to URL