Abstract / Summary
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective-tissue arteriopathy characterized by diffuse elongation and tortuosity of large and medium-sized arteries. Although it is typically diagnosed during childhood, adult presentation may occur and can be overlooked when overt connective-tissue manifestations are absent; coronary involvement is uncommon but clinically important. A 41-year-old woman presented with a two-week history of exertional substernal chest pain and dyspnea. CT coronary angiography demonstrated marked tortuosity of the left main coronary artery with focal kinking approximately 6.8 mm from its origin and 40–45% luminal stenosis (CAD-RADS 2). Contrast-enhanced CT angiography of the chest, abdomen, and pelvis demonstrated generalized arterial elongation and marked tortuosity involving the thoracic aorta, supra-aortic branches, and abdominal aortic branches, together with early branching of the main pulmonary artery, without aneurysm, dissection, or intramural hematoma. Conventional coronary angiography was technically unsuccessful because of severe arterial tortuosity, with unsuccessful catheter advancement and coronary engagement despite radial and subsequent femoral access. The overall clinical and imaging findings were highly suggestive of ATS with coronary involvement, although molecular genetic confirmation was not available. The patient was managed conservatively with vascular risk-factor optimization and structured follow-up, with symptomatic improvement at one month. This case highlights that ATS may present in adulthood with coronary artery tortuosity and focal kinking and emphasizes the importance of recognizing diffuse multi-territory arterial tortuosity on CT. Comprehensive vascular imaging can establish a strong radiological suspicion of ATS, identify coronary involvement and procedural challenges, and guide surveillance even when genetic confirmation is unavailable.