Rare case of Arterial Tortuosity Syndrome-Preoperative and Post Operative Imaging Findings

Zalak Patel, Yashpal Rana, Megha Sheth, Dinesh Patel, Samir Patel, Milin Garachh

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.

Keywords: Arterial tortuosity syndrome, connective tissue manifestation, CT aortography, MR angiography, SLC2A10 gene