Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.
The aim of this study is to retrospectively evaluate the prevalence of VA and aortic dilatation in TS, particularly in patients without CHD.
Methods: A cohort of 115 patients (mean age 24,4 years; range 16 - 42,6 years) with genetically confirmed TS and no evidence of CHD at Echo and MRI was analyzed. Echocardiography and MRI evaluations were collected to obtain a complete cardiological evaluation. The aortic diameters measured at MRI were indexed for the patient's Body Surface Area (BSA) and compared with reference values for aortic dilatation validated by Roman et al (1).
Results: Vascular anomalies were detected in 44 patients (38,3%). Elongation of the transverse aortic arch (ETA) was detected in 32 patients (27,8%), aortic kinking in 11 patients (9,6%), right subclavian artery in 7 patients (6,1%), pseudocoarctation in 13 patients (11,3%) and left superior vena cava in 2 patients (1,7%). Aortic dilatation was detected in 17 patients (14,8%) and was significantly associated with VA (OR=4; P = 0,026) and age (OR=1,1; P = 0,028).
The mean BSA-indexed diameters were significantly higher in subjects with VA than in subjects without. ETA was the vascular anomaly with the greatest influence on aortic dilatation (OR=4,5; P<0,015). No significant association was found between aortic dilatation and karyotype, phenotype, renal anomalies, growth hormone and estrogen replacement therapy.
Conclusions: The study shows that aortic dilation in TS can occur even without CHD and is significantly associated with silent vascular anomalies, detected by MRI. ETA was associated with a high risk of dilatation, both at the level of the ascending aorta and of the sinuses of Valsalva. Given the high prevalence of unexpected vascular anomalies in patients with TS and their correlation with aortic dilatation, it is mandatory to recommend a thoracic MRI to better evaluate the cardiovascular risk for TS patients, particularly before any attempt at pregnancy.
1) M. J. Roman, R. B. Devereux, R. Kramer-Fox, and J. O'Loughlin, "Two-dimensional echocardiographic aortic root dimensions in normal children and adults," Am. J. Cardiol., vol. 64, no. 8, pp. 507512, 1989.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology