Case series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants.

Abstract

Arterial tortuosity syndrome (ATS) is a very rare inherited connective tissue disorder caused by pathogenic variants in Solute Carrier Family 2 Member 10 (SLC2A10) gene. It primarily affects the large and medium-sized arteries, leading to abnormal elongation and tortuosity of the vascular tree. In children, the condition can present in markedly different ways, making early diagnosis challenging. We describe 3 children with genetically confirmed ATS who demonstrated strikingly different clinical courses. They underwent comprehensive cardiovascular evaluation using echocardiography, CT angiography, and whole-body MRI. Imaging in these cases revealed diffuse arterial tortuosity involving the aorta and its major branches, without aneurysm formation, dissection, or significant obstruction. Clinically, however, the presentations differed substantially. One patient, a neonate, presented early with respiratory distress and severe feeding difficulties and showed extensive systemic and pulmonary arterial involvement. The second patient, a 15-month-old infant, was clinically well and demonstrated a much milder vascular phenotype with preserved cardiopulmonary function. The third patient, a 6-month-old male, was referred for surgical management of a diaphragmatic hernia and evaluation of suspected ATS with an associated atrial septal defect (ASD) based on initial echocardiography. These cases highlight the wide clinical and imaging spectrum of ATS, even among patients with the same genetic diagnosis. Awareness of characteristic imaging features is essential for radiologists, as early recognition can lead to timely genetic confirmation, appropriate multidisciplinary care, and tailored long-term follow-up.