Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS)
File:Image:autorecessive.svg
Synonyms
Pronounce
Field
Symptoms	Congenital diaphragmatic hernia<ref name=nih/>
Complications
Onset
Duration
Types
Causes	Mutations in SLC2A10 gene<ref name=gen2/><ref name=om/>
Risks
Diagnosis	CT scan, MRI <ref name=ats/>
Differential diagnosis
Prevention
Treatment	Possible surgery for aortic aneurysms<ref name=orph/>
Medication
Prognosis
Frequency
Deaths

Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta.<ref name="nih">

Arterial tortuosity syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program(link). rarediseases.info.nih.gov.

Accessed 2017-03-21.

</ref><ref name="gen"> Reference, Genetics Home. arterial tortuosity syndrome(link). Genetics Home Reference.

Accessed 2017-03-21.

</ref> It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.

Signs and symptoms

Among the signs and symptoms demonstrated, by this condition are the following:<ref name=nih/><ref name="orph"> RESERVED, INSERM US14 -- ALL RIGHTS. Orphanet: Arterial tortuosity syndrome(link). www.orpha.net.

Accessed 2017-03-22.

</ref>

• Arachnodactyly
• Congenital diaphragmatic hernia
• Mental dysfunction
• Keratoconus
• Aortic regurgitation
• Blepharophimosis

Genetics

Chr 20

Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at 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">

SLC2A10 gene(link). Genetics Home Reference.

</ref><ref name="om">

OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS(link). omim.org.

Accessed 2017-03-22.

</ref>

Pathophysiology

The mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene.<ref name="ats">Bert,

 GeneReviews, 
  
 Seattle (WA):University of Washington, Seattle,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 DHA into).Clinically speaking, according to one review, the condition of tortuosity is seen more with the advance of age.<ref name=ats/><ref>Morris, Shaine A., 
 Arterial Tortuosity in Genetic Arteriopathies, 
 Current Opinion in Cardiology, 
 
 Vol. 30(Issue: 6),
 pp. 587–593,
 DOI: 10.1097/HCO.0000000000000218,
 PMID: 26398550,
 PMC: 4624847,</ref>

Diagnosis

In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing,<ref>

Arterial tortuosity syndrome - Conditions - GTR - NCBI(link). www.ncbi.nlm.nih.gov.

</ref> as well as the following listed below:<ref name=ats/>

• CT
• MRI
• Echocardiogram
• Physical exam(for specific characteristics)

Treatment

The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms, as well as, follow ups which should consist of EGC. The prognosis of this condition has it at about 12% mortality<ref name=orph/><ref>,

 Inborn Metabolic Diseases: Diagnosis and Treatment. online version, 
  
 Springer, 
  
  
  
 ISBN 9783662497715,</ref>

Further reading

• ,

 Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection, 
 FEBS Letters, 
 
 Vol. 584(Issue: 14),
 pp. 2990–2994,
 DOI: 10.1016/j.febslet.2010.06.011,
 PMID: 20547159,Review

• Wetzel-Strong, Sarah E,

 The pathobiology of vascular malformations: insights from human and model organism genetics, 
 The Journal of Pathology, 
 
 Vol. 241(Issue: 2),
 pp. 281–293,
 DOI: 10.1002/path.4844,
 PMID: 27859310,
 PMC: 5167654,

• Albuisson, Juliette,

 Clinical utility gene card for: Arterial tortuosity syndrome, 
 European Journal of Human Genetics, 
 
 Vol. 23(Issue: 10),
 pp. 1432,
 DOI: 10.1038/ejhg.2014.294,
 PMID: 25604859,
 PMC: 4592088,

External links

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