Background/Objectives: Arterial Tortuosity Syndrome (ATS) is a rare, autosomal recessive connective tissue disorder characterized by arterial twists, abnormal bulges, constriction, and tears. Patients have distinctive features and disease manifestations. The syndrome’s full clinical spectrum and course remain incompletely understood. Methods: We sought to review the medical records of Qatari patients who had ATS. The cohort study included 21 patients who were genetically confirmed by mutations in the SLC2A10 gene. Results: The study revealed that the NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) mutation in SLC2A10 leads to mild outcomes of no mortality and less morbidity. Novel features such as a flat philtrum, bulbous noses, bilateral nasolacrimal duct obstruction, allergic conjunctivitis, latent nystagmus, café au lait spots, eczema, dermatitis, allergic reactions, bilateral temporomandibular joint cysts, bilateral syndactyly (toes), parapelvic cysts, kidney malrotation, vesicoureteral reflux, and nephrolithiasis were identified in our cohort. Furthermore, rare features previously documented in a limited number of patients, including leg length discrepancy, epilepsy, and migraine headaches, were also observed in our cohort. Conclusions: Our data contributes new insights into the life course of ATS in Qatari patients. These findings underscore the importance of effective education strategies through repeated counseling aimed at preventing cousin marriage and the syndrome within the cohort.

Background: Aortoenteric fistulas (AEFs) are uncommon emergency surgical conditions associated with high mortality. We explored the presentation and management of AEFs in a tertiary hospital in Qatar, a rapidly developing Middle Eastern country. By highlighting our institutional experience with ADFs and AOFs, we aim to contribute to the growing body of literature on this rare condition and to emphasize the importance of early diagnosis, appropriate surgical planning, and multidisciplinary care in optimizing patient outcomes. We also proposed a diagnostic classification of AEFs to better understand their location, relationship to the aorta, and pathology on both sides (the gastrointestinal tract and Aorta) for further studies. Methods: This was an observational, descriptive, retrospective, single-center case series that included 10 consecutive cases presenting with AEFs. We reviewed the clinical presentation, surgical management, and outcomes of AEF cases from 2008 to 2024. Data were extracted from electronic medical records and operative notes. Additionally, we reviewed the literature over the last two decades to summarize recently published English-language literature on aortoenteric fistulas (types, presentations, management and outcomes). Results: This observational case series included nine males and one female; four with aortoesophageal (AOF) and six with aortoduodenal (ADF) fistulas. The main presentations were hypotension and upper gastrointestinal bleeding. Blood cultures were positive in four cases, including Escherichia coli, Candida albicans, and Klebsiella. Foreign bodies were the underlying cause in two cases, while an old aortic coarctation repair was found in one case. Surgical repair was not completed in two patients who deteriorated quickly and died with hypovolemic shock. Two patients had thoracic endovascular aortic repair, and others had open surgeries. The overall AEF-related mortality was 60% (n = 6; open surgery group). Conclusions: This case series could support the importance of prompt diagnosis and multidisciplinary management. It also underscores the importance of individualized treatment to optimize survival. The proposed diagnostic algorithm still requires further evaluation and validation within large samples before its implementation on a large scale.