Arterial tortuosity syndrome
Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta.[1][2] 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.[medical citation needed]
Signs and symptoms[edit | edit source]
Among the signs and symptoms demonstrated, by this condition are the following:[1][3]
- Arachnodactyly
- Congenital diaphragmatic hernia
- Mental dysfunction
- Keratoconus
- Aortic regurgitation
- Blepharophimosis
Genetics[edit | edit source]
Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.[2][4] 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.[4][5]
Pathophysiology[edit | edit source]
The mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene.[6] 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.[6][7]
Diagnosis[edit | edit source]
In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing,[8] as well as the following listed below:[6]
- CT
- MRI
- Echocardiogram
- Physical exam(for specific characteristics)
Treatment[edit | edit source]
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[3][9]
References[edit | edit source]
- ↑ 1.0 1.1 "Arterial tortuosity syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-03-21.
- ↑ 2.0 2.1 Reference, Genetics Home. "arterial tortuosity syndrome". Genetics Home Reference. Retrieved 2017-03-21.
- ↑ 3.0 3.1 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Arterial tortuosity syndrome". www.orpha.net. Retrieved 2017-03-22.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ 4.0 4.1 Reference, Genetics Home. "SLC2A10 gene". Genetics Home Reference. Retrieved 22 March 2017.
- ↑ "OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS". omim.org. Retrieved 2017-03-22.
- ↑ 6.0 6.1 6.2 update 2014
- ↑
- ↑ "Arterial tortuosity syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 March 2017.
- ↑
Further reading[edit | edit source]
- Review
External links[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.- CS1 maint: numeric names: authors list
- All articles with unsourced statements
- Articles with unsourced statements from March 2017
- Autosomal recessive disorders
- Syndromes affecting the eyes
- Membrane transport protein disorders
- Rare syndromes
- Syndromes affecting the cornea
- Syndromes affecting the aorta
- Genetic syndromes
- Medical dictionary
Contributors: Prab R. Tumpati, MD
