AI Article Synopsis
- - Arterial tortuosity syndrome is a rare genetic disorder causing major arteries to become enlarged, elongated, and highly twisted, with about 100 known cases globally, including 3 in Iran.
- - A specific case illustrates the condition being suspected during a pre-surgery check for hypertrophic pyloric stenosis, due to inadequate visualization of the thoracic aorta in an ultrasound.
- - The report emphasizes the importance of diagnostic imaging in recognizing and diagnosing arterial tortuosity syndrome.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359698 | PMC |
| http://dx.doi.org/10.1016/j.radcr.2023.06.039 | DOI Listing |
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