A Tangled Picture: Arterial Tortuosity Syndrome

A term male newborn with bilateral inguinal hernia, hydrocele, hiatal hernia, and micrognathia was referred to our centre due to the pre-natal finding of abnormalities of the pulmonary arteries. Cardiac computed tomography showed that both pulmonary arteries had an adequate origin, while inter-lobar branches were small and tortuous. In the sagittal view, the entire left-sided aortic arch was elongated and tortuous. Neck vessels had a normal origin but appeared tangled-up and distorted. The descending aorta, passing from left to right, gave rise to a peculiar ‘question mark’ shape. The abdominal aorta, before the origin of the celiac trunk, moved back to the left side of the spine. Genetic analyses demonstrated a homozygous mutation of the SLC2A10 gene (c.685 C > T), linked to the arterial tortuosity syndrome (ATS). Twenty-three mutations have been described in 102 families up to now. The ATS is a rare autosomal recessive disorder characterized by lengthening...