Abstract

Arterial tortuosity syndrome (ATS) is an exceptionally rare autosomal recessive genetic disorder characterised by the elongation and tortuosity of arteries, often leading to aneurysms, dissections, or stenosis. Additional associations include connective tissue abnormalities affecting multiple systems. The congenital connective tissue disorder is associated with mutations in the SLC2A10 gene, resulting in the deficiency of the vital protein GLUT10. This case report details a 25-day-old male with ATS, showcasing distinctive facial features, musculoskeletal anomalies, and cardiovascular complications. Imaging studies, including chest X-ray and CT aortogram, revealed tortuosity and elongation of major arteries. Further cardiac assessment identified restrictive ventricular septal defect and a tortuous aortic arch with aneurysmal branches. The discussion emphasizes the potential morbidity and mortality associated with ATS, emphasizing the importance of early diagnosis through specialized tests and genetic analysis. The case underscores the need for antenatal imaging modalities to enhance diagnostic accuracy and facilitate timely management. The conclusion advocates for comprehensive diagnostic approaches, encompassing imaging and genetic testing, to confirm ATS and initiate timely symptomatic treatment. Emphasis is placed on the crucial role of genetic counselling and psychosocial support for affected individuals and their families.