Long tortuous aorta in a child with Larsen syndrome.

A three-year-old boy with unusually flattened facies, multiple joint dislocations and eye abnormalities suggesting the presence of Larsen syndrome presented with a broad mediastinum on routine chest radiography. Computed tomography revealed a huge dilated tortuous aortic arch. Transthoracic echocardiography demonstrated aortic valve dilation, aneurysmal dilation of the ascending aorta with a high aortic arch and a kink in the arch at the isthmus level. Aortography showed a dilated elongated aorta with two acute curves, one at the ductal level and the second at the diaphragmatic level. These aortic lesions may have prognostic significance for the future risk of rupture or dissection. The present article reports the presence of a tortuous aorta in a child with Larsen syndrome.