Endocrine Abstracts

Mortality is 3 fold higher in patients with Turner syndrome (TS) than in the general population, primarily due to cardiovascular complications. Recent clinical guidelines (Gravholt et al. EJE 2017) underlined the need of a lifelong cardiovascular follow-up. However, prospective studies evaluating the aortic natural history in clinical practice are scarce. We performed a monocentric longitudinal study including 204 adult TS patients, between 2005 and 2018. Inclusion criteria were a karyotype ≥10% 45,X cells and a 1.5 Tesla magnetic resonance imaging (MRI). Aortic root diameters were measured at the 5 recommended levels: annulus, valsalva sinuses, sino-tubular junction, tubular ascending aorta and aortic cross. Aortic dilatation (AD) was defined by a diameter >32 mm or > 20 mm/m² when indexed to body surface area (BSA). History of cardiovascular surgery, valvular abnormalities and cardiovascular risk factors were recorded. Kaplan-Meier curves and uni/multivariate cox regressions were performed using SAS-V9.3 software. TS patients’ median age was 25.4 [P25; P75: 19.5; 34.2]. Their median BMI was 22.9 [20.3; 25.6] Kg/m². A 45,X monosomy was present in 82/204 (40.2%) of cases. Cardiovascular surgery had been performed at a median age of 13.0 [1.5; 24.0] in 5.9% of cases. Bicuspid aortic valve (BAV) and coarctation were detected in 22.1% and 8.8% of cases, respectively. Treated diabetes, dyslipidemia, and hypertension were found in 5.9%, 5% and 4.9% of cases, respectively. At baseline and at last follow-up, AD was observed in 65/204 (31.9%) and 85/204 (41.7%), respectively. Age at detection of AD > 20 mm/m² and > 25 mm/m² was 29.3 [21.5; 36.8] and 35.8 [24.8; 58.2] years. Kaplan-Meier modelization showed a median age of survival without AD of 35 years. Univariate cox regression showed that age of the patient (P <0.001); age at diagnosis of TS (P 0.006); presence of BAV (P <.001); coarctation (P<.001); hypertension (P 0.02); history of cardiovascular surgery (P 0.008) were significantly associated with AD. After multivariate cox modelization, only age at diagnosis (<.0001) and BAV (<.004) remained associated with AD. Preliminary data found a mean aortic progression of 0.17 mm/year over this period. Overall, AD risk is increased by 2.15 [IC95% 1.27–3.64] in presence of BAV. In conclusion, our prospective study on a large cohort of adult TS patients identified risk factors for aortic dilatation. Our results should help identifying TS patients with a higher risk of AD. It should therefore optimize the timing of MRIs during the patients’ lifelong follow-up.