Arterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report

Arterial tortuosity syndrome is a rare genetic disorder characterized by dilation, elongation, and significant tortuosity of major arteries. Approximately 100 cases of this disorder have been reported worldwide, including 3 reports in Iran. We describe a case of arterial tortuosity syndrome suspected during the preoperative evaluation for hypertrophic pyloric stenosis, where the thoracic aorta was not visualized appropriately in transthoracic echocardiography. Our report focuses on identifying the disease through diagnostic imaging.