Turner syndrome with pulmonary arteriovenous malformation：A case report

Shilong Tang^1*Huibin Guo²Hongqiao Chen²Sihao Chen²

• ¹Children‘s Hospital of Chongqing Medical University, Chongqing, China
• ²University-Town Hospital of Chongqing Medical University, Chongqing, China

Turner syndrome (TS) is the most common sex chromosome abnormality disorder, caused by complete or partial absence of the X chromosome, its clinical manifestations primarily include short stature, gonadal dysgenesis , and characteristic cardiovascular malformations, pediatric cardiologists pay particular attention to coarctation of the aorta (CoA), which occurs in 15%-30% of TS patients and represents a life-threatening condition requiring prioritized screening during the neonatal and childhood periods [1-3]. Furthermore, due to lymphatic system developmental abnormalities, TS patients also face elevated risks of aortic root dilation, bicuspid aortic valve, and vascular structural anomalies [3].Pulmonary arteriovenous malformation (PAVM) is a rare pulmonary vascular anomaly, with an estimated prevalence of approximately 1 in 50,000 in the general population[1-3]. Although the exact prevalence of PAVM in TS patients remains unclear, case series suggest a significantly elevated risk compared to the general population (estimated risk ratio: 5- to 10-fold), this association may be attributed to defective vascular elastic fiber development and dysregulated angiogenic signaling pathways in TS patients [4-5]. Here, we report the first documented case of TS complicated by PAVM, aiming to enhance clinicians’ awareness of this rare comorbidity and provide evidence-based diagnostic and therapeutic recommendations.