Loeys-Dietz Syndrome

Common Name(s)

Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner. with variable clinical expression.

This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. Mutations in the TGFBR1 and the TGFBR2 gene have been found to cause both types of Loeys-Dietz syndrome.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Loeys-Dietz 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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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

Last Updated: 5 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Loeys-Dietz 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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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

http://www.loeysdietz.org/en/

Last Updated: 5 May 2014

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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 "Loeys-Dietz Syndrome" returned 42 free, full-text research articles on human participants. First 3 results:

Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway.
 

Author(s): Bo Yu, Long Liu, Huan Sun, Yu Chen

Journal:

 

Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder, and most of LDS patients will develop into aortic aneurysm. Unfortunately, there is no known cure, and a high risk of death from aortic aneurysm rupture. However the detailed mechanism is still ...

Last Updated: 30 Nov 2015

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Spontaneous Coronary Artery Dissection in Loeys-Dietz Syndrome: Role of Optical Coherence Tomography in Diagnosis and Management.
 

Author(s): Anoop Agrawal, Shamsa Baaj, Jeffrey Schwartz, John J Lopez

Journal: J Invasive Cardiol. 2015 Sep;27(9):E196-8.

 

Coronary artery aneurysm with dissection is an uncommon presentation of Loeys-Dietz syndrome (LDS). Diagnosis and management of patients with LDS who present with unstable clinical syndromes merit special attention given unique pathophysiology derangements associated with this disease ...

Last Updated: 3 Sep 2015

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Valve-sparing aortic root surgery in a patient with Loeys-Dietz syndrome.
 

Author(s): Michael Shpoliansky, Dan Spiegelstein, Amihai Shinfeld, Ehud Raanani

Journal: Isr. Med. Assoc. J.. 2015 Mar;17(3):185-7.

 

Last Updated: 7 May 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 "Loeys-Dietz Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
 

Author(s): A Blinc, A Maver, G Rudolf, J Tasič, J Pretnar Oblak, P Berden, B Peterlin

Journal: Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21.

 

In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.

Last Updated: 18 Dec 2015

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Loeys-Dietz syndrome: a primer for diagnosis and management.
 

Author(s): Gretchen MacCarrick, James H Black, Sarah Bowdin, Ismail El-Hamamsy, Pamela A Frischmeyer-Guerrerio, Anthony L Guerrerio, Paul D Sponseller, Bart Loeys, Harry C Dietz

Journal: Genet. Med.. 2014 Aug;16(8):576-87.

 

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide ...

Last Updated: 6 Aug 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History and Genetics of Food Allergy and Related Conditions
 

Status: Recruiting

Condition Summary: Food Allergy; Loeys-Dietz Syndrome

 

Last Updated: 2 Dec 2016

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Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
 

Status: Recruiting

Condition Summary: Marfan Syndrome; Loeys-Dietz Syndrome; Thoracic Aortic Aneurysm and Dissection Syndromes; Ehlers-Danlos Type IV Syndrome; Turner Syndrome

 

Last Updated: 18 Aug 2016

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