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| {{Infobox medical condition (new)
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| | name = Arterial tortuosity syndrome (ATS)
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| | synonyms =
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| | image = Image:autorecessive.svg | | {{Infobox medical condition |
| | caption = Arterial tortuosity syndrome has an autosomal recessive pattern of [[inheritance]] | | | name = Arterial Tortuosity Syndrome |
| | pronounce =
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| | field =
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| | symptoms = Congenital diaphragmatic hernia<ref name=nih/> | | | field = [[Genetics]] |
| | | | symptoms = [[Arterial tortuosity]], [[joint hypermobility]], [[skin laxity]], [[inguinal hernia]] |
| | complications = | | | complications = [[Aneurysm]], [[stenosis]] |
| | onset = | | | onset = [[Congenital]] |
| | duration = | | | duration = [[Lifelong]] |
| | types =
| | | causes = [[Genetic mutation]] in the [[SLC2A10]] gene |
| | causes = Mutations in SLC2A10 gene<ref name=gen2/><ref name=om/> | | | risks = [[Family history]] |
| | risks = | | | diagnosis = [[Genetic testing]], [[clinical evaluation]] |
| | diagnosis = CT scan, MRI <ref name=ats/> | | | treatment = [[Surgical intervention]], [[symptomatic management]] |
| | differential =
| | | frequency = Rare |
| | prevention =
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| | treatment = Possible surgery for aortic aneurysms<ref name=orph/> | |
| | medication =
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| | prognosis =
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| | frequency = | |
| | deaths =
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| '''Arterial tortuosity syndrome''' is a rare congenital [[connective tissue condition]] disorder characterized by elongation and generalized [[tortuosity]] of the major [[artery|arteries]] including the [[aorta]].<ref name="nih">{{Cite web|url=https://rarediseases.info.nih.gov/diseases/774/arterial-tortuosity-syndrome|title=Arterial tortuosity syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-03-21}}</ref><ref name="gen">{{Cite web|url=https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome|title=arterial tortuosity syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-03-21}}</ref> It is associated with hyperextensible [[skin]] and hypermobility of [[joint]]s, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.{{medical citation needed|date=March 2017}} | | '''Arterial Tortuosity Syndrome''' (ATS) is a rare [[genetic disorder]] characterized by the elongation and tortuosity of the [[arteries]]. This condition is associated with mutations in the [[SLC2A10]] gene, which encodes the [[GLUT10]] protein, a member of the [[glucose transporter]] family. |
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| ==Signs and symptoms== | | == Signs and Symptoms == |
| Among the signs and symptoms demonstrated, by this condition are the following:<ref name=nih/><ref name="orph">{{Cite web|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342|title=Orphanet: Arterial tortuosity syndrome|last=RESERVED|first=INSERM US14 -- ALL RIGHTS|website=www.orpha.net|language=en|access-date=2017-03-22}}</ref>
| | Individuals with Arterial Tortuosity Syndrome often present with a variety of symptoms, including: |
| | * [[Arterial tortuosity]] |
| | * [[Joint hypermobility]] |
| | * [[Skin laxity]] |
| | * [[Inguinal hernia]] |
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| *[[Arachnodactyly]]
| | Complications can include the development of [[aneurysms]] and [[stenosis]] in affected arteries, which can lead to serious cardiovascular issues. |
| *Congenital diaphragmatic hernia
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| *Mental dysfunction
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| *[[Keratoconus]]
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| *[[Aortic regurgitation]]
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| *[[Blepharophimosis]]
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| ==Genetics== | | == Genetics == |
| [[File:Human male karyotpe high resolution - Chromosome 20 cropped.png|30 px|thumb|Chr 20]]
| | Arterial Tortuosity Syndrome is inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the mutated [[SLC2A10]] gene, one from each parent, to be affected by the condition. Carriers, who have only one copy of the mutation, typically do not show symptoms. |
| Arterial tortuosity syndrome exhibits [[autosomal]] [[recessive]] inheritance, and the responsible gene is located at [[chromosome 20 (human)|chromosome 20q13]].<ref name=gen/><ref name=gen2/> The gene associated with arterial tortuosity syndrome is [[SLC2A10]] and has no less than 23 mutations in those individuals found to have the aforementioned condition.<ref name="gen2">{{cite web|last1=Reference|first1=Genetics Home|title=SLC2A10 gene|url=https://ghr.nlm.nih.gov/gene/SLC2A10#conditions|website=Genetics Home Reference|accessdate=22 March 2017|language=en}}</ref><ref name="om">{{Cite web|url=https://omim.org/entry/208050|title=OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS|website=omim.org|language=en-us|access-date=2017-03-22}}</ref> | |
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| ==Pathophysiology== | | == Diagnosis == |
| [[File:Blausen 0350 EndoplasmicReticulum.png|thumb|160 px]] | | Diagnosis of ATS is based on clinical evaluation and confirmed through [[genetic testing]]. The presence of characteristic symptoms, along with a family history of the condition, can prompt genetic testing for mutations in the [[SLC2A10]] gene. |
| The mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene.<ref name="ats">{{Cite book|chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK253404/|title=GeneReviews|last=Callewaert|first=Bert|last2=De Paepe|first2=Anne|last3=Coucke|first3=Paul|date=1993-01-01|publisher=University of Washington, Seattle|editor-last=Pagon|editor-first=Roberta A.|location=Seattle (WA)|pmid=25392904|editor-last2=Adam|editor-first2=Margaret P.|editor-last3=Ardinger|editor-first3=Holly H.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Amemiya|editor-first5=Anne|editor-last6=Bean|editor-first6=Lora JH|editor-last7=Bird|editor-first7=Thomas D.|editor-last8=Ledbetter|editor-first8=Nikki|editor-last9=Mefford|editor-first9=Heather C.|chapter=Arterial Tortuosity Syndrome}}update 2014</ref> The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in [[nuclear membrane]], or the [[endoplasmic reticulum]], the later of which [[GLUT10]] transports [[Dehydroascorbic acid|DHA]] into).Clinically speaking, according to one review, the condition of ''tortuosity'' is seen more with the advance of age.<ref name=ats/><ref>{{Cite journal|last=Morris|first=Shaine A.|date=2017-03-23|title=Arterial Tortuosity in Genetic Arteriopathies|journal=Current Opinion in Cardiology|volume=30|issue=6|pages=587–593|doi=10.1097/HCO.0000000000000218|issn=0268-4705|pmid=26398550|pmc=4624847}}</ref> | |
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| ==Diagnosis== | | == Treatment == |
| In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing,<ref>{{cite web|title=Arterial tortuosity syndrome - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C1859726/|website=www.ncbi.nlm.nih.gov|accessdate=23 March 2017|language=en}}</ref> as well as the following listed below:<ref name=ats/>
| | There is no cure for Arterial Tortuosity Syndrome, but treatment focuses on managing symptoms and preventing complications. This may include: |
| *[[CT scan|CT]] | | * [[Surgical intervention]] to correct arterial abnormalities |
| *[[MRI]] | | * [[Symptomatic management]] for joint and skin issues |
| *[[Echocardiogram]]
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| *Physical exam(for specific characteristics)
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| ==Treatment== | | == See Also == |
| The treatment of arterial tortuosity syndrome entails possible surgery for [[aortic aneurysms]], as well as, follow ups which should consist of [[Electrocardiography|EGC]]. The prognosis of this condition has it at about 12% mortality<ref name=orph/><ref>{{cite book|last1=Saudubray|first1=Jean-Marie|last2=Baumgartner|first2=Matthias R.|last3=Walter|first3=John|title=Inborn Metabolic Diseases: Diagnosis and Treatment|date=2016|publisher=Springer|isbn=9783662497715|page=181|url=https://books.google.com/?id=m9N5DQAAQBAJ&pg=PA181&dq=arterial+tortuosity+syndrome+treatment#v=onepage&q=arterial%20tortuosity%20syndrome%20treatment&f=false|language=en}}</ref>
| | * [[Connective tissue disorder]] |
| | * [[Ehlers-Danlos syndrome]] |
| | * [[Marfan syndrome]] |
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| ==References== | | == References == |
| {{Reflist|32em}} | | {{Reflist}} |
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| ==Further reading== | | == External Links == |
| *{{cite journal|last1=Segade|first1=Fernando|title=Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection|journal=FEBS Letters|date=16 July 2010|volume=584|issue=14|pages=2990–2994|doi=10.1016/j.febslet.2010.06.011|pmid=20547159|issn=1873-3468}}Review | | * [Genetic and Rare Diseases Information Center - Arterial Tortuosity Syndrome](https://rarediseases.info.nih.gov/diseases/107/arterial-tortuosity-syndrome) |
| *{{Cite journal|last=Wetzel-Strong|first=Sarah E|last2=Detter|first2=Matthew R|last3=Marchuk|first3=Douglas A|date=2017-01-01|title=The pathobiology of vascular malformations: insights from human and model organism genetics|journal=The Journal of Pathology|language=en|volume=241|issue=2|pages=281–293|doi=10.1002/path.4844|issn=1096-9896|pmid=27859310|pmc=5167654}} | | * [OMIM Entry - #208050 - ARTERIAL TORTUOSITY SYNDROME](https://www.omim.org/entry/208050) |
| *{{Cite journal|last=Albuisson|first=Juliette|last2=Moceri|first2=Pamela|last3=Flori|first3=Elisabeth|last4=Belli|first4=Emre|last5=Gronier|first5=Céline|last6=Jeunemaitre|first6=Xavier|date=2017-03-21|title=Clinical utility gene card for: Arterial tortuosity syndrome|journal=European Journal of Human Genetics|volume=23|issue=10|pages=1432|doi=10.1038/ejhg.2014.294|issn=1018-4813|pmid=25604859|pmc=4592088}}
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| == External links ==
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| {{Medical resources
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| | DiseasesDB = 35153
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| | ICD10 = {{ICD10|Q87.82}}
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| | ICD9 =
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| | ICDO =
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| | OMIM = 208050
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| | MedlinePlus =
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| | eMedicineSubj =
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| | eMedicineTopic =
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| | MeshID =
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| | Orphanet = 3342
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| | SNOMED CT = 458432002
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| }}
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| {{Scholia|topic}}
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| {{Membrane transport protein disorders}}
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| {{Medicine}}
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| [[Category:Autosomal recessive disorders]] | | [[Category:Genetic disorders]] |
| [[Category:Syndromes affecting the eyes]]
| | [[Category:Rare diseases]] |
| [[Category:Membrane transport protein disorders]]
| | [[Category:Vascular diseases]] |
| [[Category:Rare syndromes]] | |
| [[Category:Syndromes affecting the cornea]]
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| [[Category:Syndromes affecting the aorta]]
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| [[Category:Genetic syndromes]] | |
| {{dictionary-stub1}}
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Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by the elongation and tortuosity of the arteries. This condition is associated with mutations in the SLC2A10 gene, which encodes the GLUT10 protein, a member of the glucose transporter family.
Signs and Symptoms
Individuals with Arterial Tortuosity Syndrome often present with a variety of symptoms, including:
Complications can include the development of aneurysms and stenosis in affected arteries, which can lead to serious cardiovascular issues.
Genetics
Arterial Tortuosity Syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated SLC2A10 gene, one from each parent, to be affected by the condition. Carriers, who have only one copy of the mutation, typically do not show symptoms.
Diagnosis
Diagnosis of ATS is based on clinical evaluation and confirmed through genetic testing. The presence of characteristic symptoms, along with a family history of the condition, can prompt genetic testing for mutations in the SLC2A10 gene.
Treatment
There is no cure for Arterial Tortuosity Syndrome, but treatment focuses on managing symptoms and preventing complications. This may include:
See Also
References
<references group="" responsive="1"></references>
External Links
