Endocrine Abstracts

Introduction: Women with turner syndrome (TS) have an increased risk of aortic dissection at young age. Bicuspid aortic valve (BAV) and aortic dilatation, both associated with TS, are risk factors. Preliminary studies suggested that cardiac MR (CMR) perfoms better than transthoracic echocardiography (TTE) for evaluating BAV and aortic dilatation, probably related to the frequent chest abnormalities in TS.

Aim: To evaluate the ability and comparability of TTE and CMR for detection of BAV and assessment of ascending aorta (AA) diameter in women with TS.

Methods: 365 scans in 99 adult TS women: 287 TTE/94 women and 98 CMR/78 women (5 with no TTE). For TTE versus CMR AA diameter comparison, only scans performed within a 2-year period (78 scans) were considered. TTE and CMR exams were reviewed by TTE and CMR expert cardiologists.

Results: Assessment of BAV was difficult due to poor visualization with TTE in 31.9% (30/94) of patients and in 17.4% (50/287) of scans. In women with multiple TTE (74) 10.8% had discordant diagnosis. Valve assessement using CMR was not possible in 20.5% (16/78) of patients and in 17.3% (17/98) of scans. Among 73 patients with both TTE and CMR scans, CMR was concordant with TTE for the diagnosis of BAV in 56.2% (41/73), discordant in 9.6% (7/73), able to assess the valve in 13.7% (10/73) of women where were poorly visualized by TTE, and not able to assess the valve in 20.6% (15/73). The AA diameter was difficult to assess with TTE in 36.2% (34/94) of women and 16% (46/287) of scans. AA measurements were feasible in all CMR. Pearson’s correlation between TTE and CMR AA measurements was +0.723 (P<0.001). Among scans performed with both techniques within a 2-year period, 72% showed a discrepancy between AA diameters:

• TTE underestimated CMR measurements in 32% (25/78) with a difference ≥3 mm in 16.7% (13/78).

• TTE overestimated CMR measurements in 40% (31/78) with a difference ≥3 mm in 18% (14/78).

In 10.3% of scans the results were the same and in 18% diameter was only measurable with CMR.

Conclusions: TTE assessment of BAV and aortic dilatation in women with TS is technically limited and frequently unreliable. CMR is the preferred imaging technique for overcoming the difficulties in assessment of aortic valve and aortopathy, and thus of aortic dissection risk, supporting the recent International TS Guidelines that recommend expert and multidiscliplinary approach.