Arterial tortuosity syndrome

The arterial tortuosity syndrome refers to a rare disease of the connective tissue, which in name leads to tortuous and elongated arteries. The consequences of these anomalies range from aneurysms, dissections and stenoses to ventricular hypertension and heart failure.

Typically, the disease manifests in infancy and occurs equally in both sexes. The cause of the disease are mutations in the SLC2A10 gene (20q13.12), how exactly this leads to the symptoms is not clear yet.

Almost a quarter of those affected die before the age 5, mostly due to heart failure.