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.

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: 30 Oct 2012

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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 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: 30 Oct 2012

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

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

Aortic valve-sparing surgery in Marfan syndrome.
 

Author(s): Eyal Nachum, Amichay Shinfeld, Alexander Kogan, Sergey Preisman, Shany Levin, Ehud Raanani

Journal: Isr. Med. Assoc. J.. 2013 Aug;15(8):439-42.

 

Patients with Marfan syndrome are referred for cardiac surgery due to root aneurysm with or without aortic valve regurgitation. Because these patients are young and frequently present with normal-appearing aortic cusps, valve sparing is often recommended. However, due to the genetic ...

Last Updated: 1 Oct 2013

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Application of CRT-D in a Marfan syndrome patient with chronic heart failure accompanied by ventricular tachycardia and ventricular fibrillation.
 

Author(s): Hai-ying Xu, Yi-zhou Xu, Feng Ling, Zhong Yu, Jun Yang, Xu Duan, Bei Wang, Jin-yu Huang

Journal: J Zhejiang Univ Sci B. 2013 Aug;14(8):759-62.

 

Marfan syndrome is a systemic connective tissue disease that could affect the cardiovascular system and eventually lead to heart enlargement and heart failure with high mortality, mainly due to progressive heart failure and/or sudden cardiac death caused by malignant arrhythmia. Here ...

Last Updated: 30 Jul 2013

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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 

Author(s): Hugh Young Rienhoff, Chang-Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan Melnick, Shujun Luo, Nan Leng, Yeon-Jin Kim, Gary Schroth, John Westwick, Hannes Vogel, Nazli McDonnell, Judith G Hall, Malcolm Whitman

Journal: Am. J. Med. Genet. A. 2013 Aug;161A(8):2040-6.

 

The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys-Dietz syndromes (LDS, OMIM #609192). ...

Last Updated: 29 Jul 2013

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

Cardiovascular magnetic resonance in Marfan syndrome.
 

Author(s): Helen Dormand, Raad H Mohiaddin

Journal:

 

This review provides an overview of Marfan syndrome with an emphasis on cardiovascular complications and cardiovascular imaging. Both pre- and post-operative imaging is addressed with an explanation of surgical management. All relevant imaging modalities are discussed with a particular ...

Last Updated: 13 May 2013

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Marfan syndrome: report of two cases with review of literature.
 

Author(s): A K Randhawa, C Mishra, S B Gogineni, S Shetty

Journal: Niger J Clin Pract. ;15(3):364-8.

 

Marfan syndrome is a variable, autosomal dominant disorder of connective tissue whose cardinal features affect the cardiovascular system, eyes and skeleton. The minimal birth incidence is around 1 in 9800. About three quarters of patients have an affected parent; new mutations account ...

Last Updated: 10 Sep 2012

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Pulmonary histologic changes in Marfan syndrome: a case series and literature review.
 

Author(s): Kathryn Dyhdalo, Carol Farver

Journal: Am. J. Clin. Pathol.. 2011 Dec;136(6):857-63.

 

Marfan syndrome is one of the most common connective tissue diseases and may manifest with a range of symptoms and pathologic changes. We present a retrospective series of 5 cases of patients with Marfan syndrome and pulmonary pathology. Patients were young to middle-aged adults with ...

Last Updated: 18 Nov 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

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

 

Last Updated: 18 Mar 2013

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Last Updated: 8 Jun 2010

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