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][6] 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.

Arterial tortuosity syndrome (ATS)
Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance
SpecialtyCardiology 
SymptomsCongenital diaphragmatic hernia[1]
CausesMutations in SLC2A10 gene[2][3]
Diagnostic methodCT scan, MRI [4]
TreatmentPossible surgery for aortic aneurysms[5]

Signs and symptoms

Among the signs and symptoms demonstrated, by this condition are the following:[1][5]

Genetics
Chr 20

Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.[6][2] 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.[2][3]

Pathophysiology

The mechanism of this condition is apparently controlled by(or due to) the SLC2A10 gene.[4] 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.[4][7]

Diagnosis

In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing,[8] as well as the following listed below:[4]

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[5][9]

References
  1. "Arterial tortuosity syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-03-21.
  2. Reference, Genetics Home. "SLC2A10 gene". Genetics Home Reference. Retrieved 22 March 2017.
  3. "OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS". omim.org. Retrieved 2017-03-22.
  4. Callewaert, Bert; De Paepe, Anne; Coucke, Paul (1993-01-01). "Arterial Tortuosity Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 25392904.update 2014
  5. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Arterial tortuosity syndrome". www.orpha.net. Retrieved 2017-03-22.
  6. Reference, Genetics Home. "arterial tortuosity syndrome". Genetics Home Reference. Retrieved 2017-03-21.
  7. Morris, Shaine A. (2017-03-23). "Arterial Tortuosity in Genetic Arteriopathies". Current Opinion in Cardiology. 30 (6): 587–593. doi:10.1097/HCO.0000000000000218. ISSN 0268-4705. PMC 4624847. PMID 26398550.
  8. "Arterial tortuosity syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 March 2017.
  9. Saudubray, Jean-Marie; Baumgartner, Matthias R.; Walter, John (2016). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer. p. 181. ISBN 9783662497715.

Further reading
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.