Correlations of phenotype and genotype in relation to mor phologic remodelling of the aortic root in patients with Turner's syndrome

Abstract Background: Patients with Turner’s syndrome are at risk of aortic dilation and dissection. Currently, it is not known whether such dilation is related to associated cardiovascular abnormalities, or to the genetic anomaly itself. Methods: We studied echocardiographically 107 patients with genetically proven Turner’s syndrome, with heterogeneous underlying karyotypes, and without associated cardiac lesions. Their average age was 19.6 plus or minus 8.4 years. We compared the finding with those from 71 age-matched healthy female volunteers. The diameter of the aorta was measured at the level of the basal attachments of the aortic valvar leaflets, the sinuses of Valsalva, the sinutubular junction, and its ascending component. Results: Compared to control subjects, the patients with Turner’s syndrome had larger diameters of the aorta at the level of the sinuses of Valsalva, at 23.41/24.8 versus 25.51/24.1 millimetres (p50.0014), the sinutubular junction, at 19.91/23.8 versus 23.31/24.1 millimetres (p,0.0001), and the ascending aorta, at 22.31/24.9 versus 24.61/24.4millimetres (p50.0011). Dilation of the sinutubular junction, found in just over one-quarter of the patients, was more common than dilation of the ascending aorta, the latter found in less than one-tenth. The patients with Turner’s syndrome, therefore, presented with remodelling of the aortic root, with relative dilation of the sinutubular junction. The underlying karyotype influenced both the dimensions of the sinutubular junction (p50.0054), and the ascending aorta (p50.0064), so that patients with the karyotype 45X had larger aortas. The karyotype was the strongest predictor by multivariate analysis for dilation at both these sites (p50.0138 and 0.0085, respectively). Conclusions: Dilation at the sinutubular junction is frequent in patients with Turner’s syndrome, and is more common than dilation of the ascending aorta. The syndrome is associated with a remodelling of the aortic root, with prominent dilation of the sinutubular junction. There seems to be a relation between aortic dilation and the underlying genotype.