OC34 - Magnetic resonance imaging in Turner syndrome (TS): expanding the scope of cardiovascular and renal diagnostics

Background TS is associated with an increased risk of cardiovascular and renal anomalies, contributing to reduced life expectancy. While most imaging studies have focused on the thoracic region, there is a lack of data concerning the abdominal arteries and renal vascular anatomy. Objective To evaluate the role of cardiac magnetic resonance imaging (CMR) in detecting cardiovascular and renal anomalies in TS and to examine correlations with clinical features and karyotype. Methods A prospective analysis was performed on a cohort of 33 TS women (mean age 41±13 years) who underwent contrast-enhanced CMR (Dotarem) between January 1999 and September 2023. Imaging was performed using a 1.5-Tesla MR imaging system (Ingenia, Philips) with OmegaHP gradients, dStream technology, and FlexCoverage coils. CMR acquisition covered the region from the common carotid to the iliac artery bifurcation. Results At least one cardiovascular anomaly was identified in 60% of patients. Aortic coarctation was observed in 6%, aortic root dilation in 30%, and ascending aortic dilation in 27%. Elongation of the transverse aortic arch was the most frequent anomaly (48%), followed by a bovine arch configuration (18%). Partial anomalous pulmonary venous return was detected in 6%, associated with right heart chamber volume overload. Notably, 86% of cardiovascular anomalies detected by CMR had not been previously identified by echocardiography. One patient underwent aortic surgery based on CMR findings. Anomalies were more frequent in patients with a 45,X0 karyotype (82%) compared to those with mosaicism (53%) or other karyotypes (33%). Renal anomalies were found in 21% of patients, including renal malrotation (18%), horseshoe kidney (6%), and bilateral ureteral duplication (6%). All patients with renal anomalies showed altered vascular anatomy, most commonly accessory renal arteries (75%), with bilateral involvement in 52%, despite preserved renal function. Conclusions CMR imaging demonstrates high sensitivity in identifying cardiovascular and renal abnormalities in TS, many of which are missed by echocardiography. The findings suggest a diffuse dilative arteriopathy, reflecting a systemic arterial wall fragility, and highlight the importance of incorporating abdominal imaging into standard clinical care and adopting personalized management approaches, as outlined in the 2023 guidelines.