Arterial tortuosity syndrome

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Arterial Tortuosity Syndrome
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Arterial tortuosity, joint hypermobility, skin laxity, inguinal hernia
Complications Aneurysm, stenosis
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation in the SLC2A10 gene
Risks Family history
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis N/A
Prevention N/A
Treatment Surgical intervention, symptomatic management
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder characterized by the elongation and tortuosity of the arteries. This condition is associated with mutations in the SLC2A10 gene, which encodes the GLUT10 protein, a member of the glucose transporter family.

Signs and Symptoms[edit]

Individuals with Arterial Tortuosity Syndrome often present with a variety of symptoms, including:

Complications can include the development of aneurysms and stenosis in affected arteries, which can lead to serious cardiovascular issues.

Genetics[edit]

Arterial Tortuosity Syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated SLC2A10 gene, one from each parent, to be affected by the condition. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Diagnosis[edit]

Diagnosis of ATS is based on clinical evaluation and confirmed through genetic testing. The presence of characteristic symptoms, along with a family history of the condition, can prompt genetic testing for mutations in the SLC2A10 gene.

Treatment[edit]

There is no cure for Arterial Tortuosity Syndrome, but treatment focuses on managing symptoms and preventing complications. This may include:

See Also[edit]

References[edit]


External Links[edit]

Arterial tortuosity syndrome[edit]

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