Arterial Tortuosity Syndrome
Phenotypic Features and Cardiovascular Manifestations
Arterial tortuosity syndrome is a recently defined rare genetic syndrome with autosomal recessive inheritance characterized by elongation, tortuosity, stenosis, and aneurysm formation of major arteries. These images are of a 1-year-old girl with arterial tortuosity syndrome. She was a first-born child of nonconsanguineous parentage and was referred with recurrent respiratory tract infections since 7 months of age. She was found to have lax skin with prominent anterior axillary skin folds, hyperextensile joints, downslanting palpebral fissures, broad forehead, micrognathia, umbilical hernia, and generalized hypotonia (Figure 1). Echocardiogram showed a hugely dilated ascending aorta and tortuosity of the aortic arch branches (online-only Data Supplement, Figures I and II). The main pulmonary artery was also dilated with proximal stenosis of the right pulmonary artery. Multidetector cardiac computed tomography revealed markedly ectatic ascending aorta and arch and descending aorta with extreme tortuosity of all the arch branches and the abdominal aorta. A small segment of the proximal descending thoracic aorta was narrow. (Figures 2, 3A, and 3⇓B).
The online-only Data Supplement, consisting of 2 figures, is available with this article at http://circ.ahajournals.org/cgi/content/full/117/23/e477.