Więcek Małgorzata, Olczak Zbigniew, Machnikowska-Sokołowska Magdalena, Błaszczyk Ewa, Wójcik Małgorzata, Mazur Artur, Starzyk Jerzy, Kusa Jacek, Gawlik-Starzyk Aneta
Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
Division of Diagnostic Imaging, Department of Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia, University Hospital no. 6, John Paul II Upper Silesian Centre for Child Care, Katowice, Poland.
Front Pediatr. 2025 Jul 31;13:1622222. doi: 10.3389/fped.2025.1622222. eCollection 2025.
Turner Syndrome (TS) is a chromosomal disorder frequently associated with congenital cardiovascular abnormalities, particularly bicuspid aortic valve (BAV), coarctation of the aorta (CoA), and aortic dilatation. These conditions substantially increase the risk of aortic dissection. Although echocardiography (ECHO) is commonly used for cardiac monitoring, its limitations in evaluating aortic morphology require cardiac magnetic resonance imaging (CMR), as recommended by recent guidelines. CMR offers a comprehensive alternative, especially during the transition from pediatric to adult care. This timing allows for optimal cardiovascular risk assessment before conception or assisted reproductive procedures.
To confirm the diagnostic utility of CMR in identifying congenital and acquired cardiovascular abnormalities in adolescents with TS, and to assess the prevalence of previously undiagnosed cardiovascular defects prior to transition to adult healthcare.
In this prospective study conducted between 2020 and 2025, 43 girls with TS (mean age 16.1 ± 1.4 years) were recruited from specialized centers in southeastern Poland. Participants underwent clinical assessment and CMR in one university center using a standardized-unified protocol. Measurements included aortic diameter, aortic height index (AHI), aortic size index (ASI), and Z-scores specific to TS and the general population.
CMR identified BAV in 15 (34.9%) patients, of which 60% had not been previously diagnosed by ECHO. Other abnormalities included CoA (2.3%), great vessel anomalies (9.3%), and partial anomalous pulmonary venous return (7.0%). Aortic dilatation was found in 5 patients (11.6%), all of whom had BAV. Significant differences were observed in ascending aorta diameter, AHI, and TS-specific Z-scores between patients with and without BAV ( < 0.05). No significant correlation was found between congenital heart defects and karyotype.
CMR provides critical diagnostic insight into cardiovascular defects in adolescents with TS. A substantial number of cardiovascular abnormalities, including BAV, remain undetected by ECHO alone. Integration of CMR into transition protocols may enhance early diagnosis, risk stratification, and long-term outcomes for patients with TS. Due to the increased risk of aortic dissection during pregnancy in patients with TS, CMR should be considered as a part of the evaluation before invasive fertility preservation procedures which could be offered even earlier than transitioning.
特纳综合征（TS）是一种染色体疾病，常与先天性心血管异常相关，尤其是二叶式主动脉瓣（BAV）、主动脉缩窄（CoA）和主动脉扩张。这些情况会大幅增加主动脉夹层的风险。尽管超声心动图（ECHO）常用于心脏监测，但根据近期指南的建议，其在评估主动脉形态方面的局限性需要心脏磁共振成像（CMR）。CMR提供了一种全面的替代方法，尤其是在从儿科护理过渡到成人护理期间。这个时机有助于在受孕或辅助生殖程序之前进行最佳的心血管风险评估。
确认CMR在识别TS青少年先天性和后天性心血管异常方面的诊断效用，并评估在过渡到成人医疗保健之前先前未诊断出的心血管缺陷的患病率。
在2020年至2025年进行的这项前瞻性研究中，从波兰东南部的专业中心招募了43名TS女孩（平均年龄16.1±1.4岁）。参与者在一个大学中心按照标准化统一方案接受临床评估和CMR检查。测量指标包括主动脉直径、主动脉高度指数（AHI）、主动脉大小指数（ASI）以及TS和一般人群特有的Z评分。
CMR在15名（34.9%）患者中发现了BAV，其中60%此前未被ECHO诊断出来。其他异常包括CoA（2.3%）、大血管异常（9.3%）和部分肺静脉异位引流（7.0%）。在5名患者（11.6%）中发现了主动脉扩张，所有这些患者都有BAV。有BAV和无BAV的患者在升主动脉直径、AHI和TS特异性Z评分方面存在显著差异（<0.05）。未发现先天性心脏缺陷与核型之间存在显著相关性。
CMR为TS青少年的心血管缺陷提供了关键的诊断见解。仅靠ECHO仍有大量心血管异常未被检测到。将CMR纳入过渡方案可能会改善TS患者的早期诊断、风险分层和长期预后。由于TS患者在怀孕期间主动脉夹层风险增加，在提供甚至比过渡更早的侵入性生育保留程序之前，应将CMR视为评估的一部分。
