GTR Home > Conditions/Phenotypes > Arterial tortuosity syndrome

Summary

Excerpted from the GeneReview: Arterial Tortuosity Syndrome
Arterial tortuosity syndrome (ATS) is characterized by: Severe and widespread arterial tortuosity of the aorta and middle-sized arteries (with an increased risk of aneurysms and dissections) and focal and widespread stenosis which can involve the aorta and/or pulmonary arteries; The risk for ischemic vascular events involving cerebrovascular circulation and the abdominal arteries is increased. In addition, large veins may be dilated and valvular regurgitation and mitral valve prolapse can occur. Craniofacial involvement with characteristic facies and high palate with dental crowding; Soft/doughy skin and other evidence of a generalized connective tissue disorder including skeletal findings (scoliosis, pectus excavatum/carinatum, joint laxity, knee/elbow contractures, arachnodactyly, camptodactyly); inguinal/abdominal wall hernia; sliding hiatal or diaphragmatic hernia; hypotonia; and ocular involvement (myopia, keratoconus).

Genes See tests for all associated and related genes

  • Also known as: ATS, GLUT10, SLC2A10
    Summary: solute carrier family 2 member 10

Clinical features

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Practice guidelines

  • ESC, 2014
    2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
  • ACMG, 2012
    Evaluation of the adolescent or adult with some features of Marfan syndrome.

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