Arterial tortuosity syndrome

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Arterial Tortuosity Syndrome (pronunciation: ar-te-ri-al tor-tu-os-i-ty syn-drome) is a rare genetic disorder characterized by elongation and twisting of the major arteries. The term originates from the Latin arteria meaning airpipe and tortus meaning twisted.

Overview

Arterial Tortuosity Syndrome (ATS) is primarily caused by mutations in the SLC2A10 gene. The condition is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Symptoms

The most common symptoms of Arterial Tortuosity Syndrome include hypertelorism (wide-set eyes), a long face with a high forehead, and large ears. Other symptoms may include joint laxity, skin hyperextensibility, and hernias.

Diagnosis

Diagnosis of Arterial Tortuosity Syndrome is typically made through genetic testing, specifically looking for mutations in the SLC2A10 gene. Other diagnostic methods may include echocardiography and computed tomography (CT) scans.

Treatment

Treatment for Arterial Tortuosity Syndrome is typically supportive and based on the signs and symptoms present in each person. This may include surgery to repair arterial abnormalities and management of other symptoms as needed.

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