Below you will find more information about Arterial tortuosity from Medigest. If you believe that you are suffering from any of the symptoms of Arterial tortuosity it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Arterial tortuosity and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Arterial tortuosity comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.
Arterial tortuosity is an unusual hereditary connective tissue disorder distinguished by elongated and widespread tortuosity of the main arteries involving the aorta. The autosomal recessive acquired and location of the gene responsible is in the chromosome 20q13.
Symptoms and Signs
Arterial tortuosity Artery is lengthened Arterial aneurysm Arterial stenosis Telangiectasia - a group of expanded vessels on the surface of the skin.
The cause of arterial tortuosity is still uncertain. The easiest way to explain it is that the growth of the aorta involves any longitudinal elaboration of new tissues. Due to the fact that the beginnings of several arteries at parent vessels and their extinction at daughter branches are anatomically permanent, longitudinal development can eventually compel vessels to become tortuous.
Lately it was founded that SLC2A10 mutation happens in this condition. It is responsible for encoding the glucose transporter GLUT10 and was earlier said to be a candidate gene for type 2 of diabetes mellitus. Newly founded ATS families a total of 12 and 16 affected people were clinically and molecularly distinguished. Also, general cardiovascular imaging and glucose tolerance tests were done in both patients and heterozygous carriers. All 16 patients have biallelic SLC2A10 mutations of wherein nine are new (6 mis-sense, 3 shorten mutations, as well as a large cut). Haplotype studies recommend founder effects for all five recurring mutations. Surprisingly, patients were notably older than those earlier stated in the literature (P=0.04). Just one affected family member died, most probably of an isolated cause. Though the accepted history of ATS in this cycle was less severe than earlier reported, it does specify a danger for ischemic events. Two patients primarily presented with stroke, respectively at age 8 months and 23 years. Tortuosity of the aorta or large arteries was consistently present. Two adult pro-bands (aged 23 and 35 years) had aortic root dilation, seven patients had contained arterial stenoses, and five had long stenotic stretches of the aorta. Heterozygous carriers did not present some vascular abnormalities. Glucose metabolism was regular in six patients and eight heterozygous persons of five families. In isolation, obvious diabetes is not associated to SLC2A10 formations related with ATS.Discuss Arterial tortuosity in our forums
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