Arterial Tortuosity Syndrome

Common Name(s)

Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome (ATS) is a rare genetic condition that is characterized by arteries that are too long which twist and kink. ATS may predispose a person to stroke, heart attack, aneurism, and general pain. This connective tissue syndrome can also cause joints to stretch further than their normal range and predispose an affected individual to abdominal hernias. There are currently only 100 cases of ATS documented. ATS runs in families. ATS is commonly misdiagnosed or diagnosed at a late stage. There is currently no treatment for ATS, although other risk factors for stroke and heart attack, such as high blood pressure or obesity, can be controlled to decrease a persons overall risk of this complications.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arterial Tortuosity Syndrome" for support, advocacy or research.

A Twist of Fate-ATS

"Our mission is a world wide initiative to find a cure for Arterial Tortuosity Syndrome, by supporting research, education, awareness, and families"

Last Updated: 14 Jul 2014

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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 "Arterial Tortuosity Syndrome" for support, advocacy or research.

A Twist of Fate-ATS

"Our mission is a world wide initiative to find a cure for Arterial Tortuosity Syndrome, by supporting research, education, awareness, and families"

http://www.atwistoffate-ats.com

Last Updated: 14 Jul 2014

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General Support Organizations

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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 "Arterial Tortuosity Syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.
 

Author(s): Pamela Moceri, Juliette Albuisson, Marie Saint-Faust, Florence Casagrande, Fabienne Giuliano, Caroline Devos, Philippe Benoit, Nicolas Hugues, Dorothée Ducreux, Pierre Cerboni, Christian Dageville, Xavier Jeunemaitre

Journal: J. Am. Coll. Cardiol.. 2013 Feb;61(7):783.

 

Last Updated: 15 Feb 2013

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Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
 

Author(s): Esra Kiliç, Yasemin Alanay, Eda Utine, Burçe Ozgen-Mocan, Peter N Robinson, Koray Boduroğlu

Journal: Turk. J. Pediatr.. ;54(2):198-202.

 

We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm ...

Last Updated: 27 Jun 2012

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[Familial arterial tortuosity syndrome].
 

Author(s): Murat Ciftel, Fırat Kardelen, Ayşe Simşek, Ozlem Turan, Gayaz Akçurin, Halil Ertuğ

Journal: Anadolu Kardiyol Derg. 2012 Jun;12(4):366-7.

 

Last Updated: 22 May 2012

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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 "Arterial Tortuosity Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature.
 

Author(s): Filiz Ekici, Tayfun Uçar, Suat Fitöz, Semra Atalay, Ercan Tutar

Journal: Turk. J. Pediatr.. ;53(1):104-7.

 

Arterial tortuosity syndrome (ATS) is a rare hereditary, autosomal recessive, connective tissue disorder. Herein, we describe a five-year-old boy. He had hyperextensible skin, atypical facial features and inguinal hernia. We present his vascular imaging studies of kinking and tortuosity ...

Last Updated: 3 May 2011

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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

There are currently no open clinical trials for this condition.