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Case Report



Arterial Tortuosity Syndrome and Hypermobility of Joints - Case Presentation and a Review of Literature

Ramush Bejiqi, Ragip Retkoceri, Arlinda Maloku, Aferdita Mustafa.




Abstract

Background: Arterial tortuosity syndrome (ATS) is a rare congenital connective tissue disorder characterized by elongation and generalized tortuosity of the major and distal arteries, including the aorta. Clinically syndrome is associated with hyperextensible skin and hypermobility of joints. Objective: Here we present a three-year-old boy who was referred to our center for investigation of incidental murmur; but subsequently he was found to have ATS. Results: A 3-year-old boy with lax joints and hyper flexibility of the skin was found to have severe tortuosity of the great vessels along with critical aortic coarctation. Diagnosis and management aspects have been discussed. This review delves into a variety of strategies that could be harnessed to enhance radiology diagnostic services, thereby better-serving stroke patients in multidisciplinary hospital settings. It sheds light on the current hurdles in the optimization of stroke management, discussing them in detail. This article also explores the application and significance of Process Mapping in streamlining workflow for stroke management in hospitals, providing insights into its benefits, challenges, and future implications. Furthermore, the potential of Artificial Intelligence (AI) and Machine Learning (ML) in refining stroke management processes is also analysed and discussed. Conclusion: The quest for optimizing the organization of radiology diagnostic services in multidisciplinary hospitals unveils a multi-pronged pathway. It beckons a harmonious blend of technological innovation, operational finesse, and multidisciplinary camaraderie. stepwise implementation of the identified optimization strategies, coupled with a continual assessment of their impact on patient care and operational efficiency, is recommended.

Key words: Arterial tortuosity syndrome (ATS), SLC2A10 gene mutation, aortic coarctation, connective tissue disease.






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