CASE REPORT article
Front. Cardiovasc. Med.
Sec. Pediatric Cardiology
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1603250
This article is part of the Research TopicCase Reports in Clinical and Translational Cardiovascular Medicine: 2024View all 4 articles
Turner syndrome with pulmonary arteriovenous malformation:A case report
Provisionally accepted- 1Children‘s Hospital of Chongqing Medical University, Chongqing, China
- 2University-Town Hospital of Chongqing Medical University, Chongqing, China
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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.
Keywords: ts, PAVM, Children, CTA, Heart
Received: 31 Mar 2025; Accepted: 05 Aug 2025.
Copyright: © 2025 Tang, Guo, Chen and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shilong Tang, Children‘s Hospital of Chongqing Medical University, Chongqing, China
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