Rare case of Arterial Tortuosity Syndrome-Preoperative and Post Operative Imaging Findings
Journal: International Journal of Science and Research (IJSR) (Vol.5, No. 8)Publication Date: 2016-08-05
Authors : Zalak Patel; Yashpal Rana; Megha Sheth; Dinesh Patel; Samir Patel; Milin Garachh;
Page : 946-950
Keywords : Arterial tortuosity syndrome; connective tissue manifestation; CT aortography; MR angiography; SLC2A10 gene;
Abstract
Arterial tortuosity syndrome (ATS) is a rare hereditary, autosomal recessive disorder causing severe and widespread tortuosity of aorta and middle sized arteries, craniofacial and generalized connective tissue involvement. Due to increased vascular fragility imaging modality like sonography, MDCT (Multidetector computed tomography), MRA (Magnetic resonance angiography) are more useful than invasive diagnostic procedure. Definitive diagnosis is by molecular analysis of SLC2A10 gene.
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