Marfan syndrome

Common Name(s)

Marfan syndrome

Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).
 

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 348 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

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Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
 

Author(s): Younghee Kwun, Su Jin Kim, Jieun Lee, Tsuyoshi Isojima, Doo-Seok Choi, Duk-Kyung Kim, June Huh, I-Seok Kang, MiSun Chang, Sung Yoon Cho, Young Bae Sohn, Sung Won Park, Dong-Kyu Jin

Journal: J. Korean Med. Sci.. 2015 Jul;30(7):911-6.

 

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate ...

Last Updated: 1 Jul 2015

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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 39 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

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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

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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

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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

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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Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Bicuspid Aortic Valve; Marfan Syndrome

 

Last Updated: 26 Jun 2015

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Last Updated: 8 Jun 2010

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