Arterial tortuosity syndrome in two cases

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, aneurysmatic formation, and stenotic lesions in large and medium-size arteries. We present two cases of ATS diagnosed during cardiac examination for murmurs. The first was an 11-year-old boy who had an atypical facial appearance and hyperelasticity. He had a prior operation for inguinal hernia. Echocardiography showed aneurysmatic dilatation in the main pulmonary artery and peripheral stenotic lesions. Angiography and computed tomography angiography confirmed aneurysmatic formation in the main pulmonary artery and multiple stenotic lesions in peripheral arteries and showed elongation and tortuosity of the major branches of the aorta. Surgical reconstruction of the pulmonary arterial system was performed. The second was a 3-month-old girl with an atypical facial appearance, hyperelasticity, and marked hypotonia. The aortic arch could not be visualized during echocardiography. Angiographic examination showed mild bilateral stenosis of distal pulmonary arteries, elongation and tortuosity of the aortic arch and its main branches.