Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder characterized by widespread elongation and tortuosity (twisting) of the major arteries throughout the body. It is caused by biallelic pathogenic variants in the SLC2A10 gene, which encodes the facilitative glucose transporter GLUT10. The condition primarily affects the cardiovascular system, but because it is a connective tissue disorder, it can also involve the musculoskeletal system, skin, and other organs. Key clinical features include severe and generalized tortuosity of the aorta and medium-to-large-sized arteries, arterial stenosis (narrowing), and an increased risk of aneurysm formation and dissection. Patients frequently present in infancy or early childhood with cardiovascular symptoms such as heart murmurs, pulmonary artery stenosis, and aortic root dilatation. Additional features may include hyperextensible skin, joint hypermobility, hernias, elongated face, micrognathia, and skeletal abnormalities such as pectus deformity and scoliosis. Some patients develop ischemic events due to arterial stenosis. There is currently no cure for arterial tortuosity syndrome. Management is primarily supportive and multidisciplinary, focusing on cardiovascular surveillance with regular imaging (echocardiography, CT or MR angiography), surgical or interventional repair of significant stenoses or aneurysms, and monitoring for complications. Blood pressure control and avoidance of strenuous physical activity may be recommended. Prognosis is variable; some patients experience life-threatening cardiovascular events in childhood, while others survive into adulthood with appropriate monitoring and management. Genetic counseling is recommended for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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