Endocrine Abstracts

JOINT1976

Background: Turner Syndrome (TS) is associated with cardiovascular abnormalities, including bicuspid aortic valve (BAV), coarctation of the aorta (CoA), and aortic dilatation, increasing the risk of life-threatening complications such as aortic dissection. Continuous cardiac monitoring is essential, particularly during the transition to adult care. While transthoracic echocardiography (ECHO) is widely used, it has limitations in assessing aortic valve morphology. Current guidelines recommend cardiac MRI for comprehensive evaluation when general anesthesia is unnecessary.

Objective: This study evaluates the role of cardiac MRI in detecting cardiovascular abnormalities in TS patients before transition to adult care, identifying undiagnosed defects, and aiding risk stratification.

Methods: This prospective study (Sep/2020 – Jan/2025) recruited TS patients from southeastern Poland. Inclusion criteria were confirmed TS diagnosis, ability to undergo MRI without anesthesia, and informed consent. Exclusion criteria included contraindications to MRI or lack of consent. Cardiac MRI (1.5T scanner with contrast) assessed aortic dimensions, left heart parameters, and congenital heart defects. Aortic dilation was evaluated using the aortic height index (AHI), aortic size index (ASI), and TS-specific Z-scores.

Results: A total of 40 TS patients with mean (min-max) age 16.2±1.4 (11.7-18.0) years were included. Among them, 9 (22.5%) had a 45,X karyotype, and 31 (77.5%) non-45,X variations, 6 (15%) were overweight, 10 (25%) had obesity. Medical history revealed BAV in 6 (15%) patients, one (2.5%) with CoA. Other singular cases included persistent left superior vena cava, mitral insufficiency, aortic stenosis, and left subclavian artery widening. 10 (25%) had arterial hypertension. MRI detected BAV in 13 (32.5%), patients post-CoA in 1 (2.5%), great vessel anomalies in 4 (10%), and partial anomalous pulmonary venous return (PAPVR) in 3 (7.5%). Additional single cases included a right coronary artery aneurysm, persistent left superior vena cava, mitral annular disjunction, atrial septal defect, mitral insufficiency, and left subclavian artery widening. Aortic dilatation was found in 5 (12.5%) patients, BAV was diagnosed in 4 of them. None of them had aortic hypertension. Differences in AHI, ASI, and TS-specific Z-scores for ascending aorta dimension between BAV and non-BAV patients were not statistically significant (P =0.054, 0.12, 0.07, respectively). No significant differences in congenital defect prevalence were found between 45,X and other karyotypes (p > 0.05).

Conclusion: The high rate of (un)diagnosed CV-pathies supports integrating MRI with routine ECHO for early detection and intervention. Strengthening transition protocols and increasing awareness of cardiovascular risks in TS could improve outcomes.