The Relationship between cardiometabolic, hormonal, genetic risk factors and aortic dilatation in Turner syndrome

Abstract

Turner syndorme (TS) is a rare disorder, caused by the absence of one or a part of one sex chromosome. The most severe complication of TS is aortic disection, which is almost up to 100 times more frequent compared with general population. The main risk factor for disection is aortic dilatation, which patogenesis is not well known. We aimed to analyze cardiometabolic, hormonal, and genetic risk factors in relation with the aortic dilatation in TS. All females with confirmed TS, who have given a consent to participate in the study, were enrolled. The prevalence of the aortic dilatation in TS and the main predictors of it have been assessed for the first time in Lithuania.The aim of the study is as follows: To analyze cardiometabolic, hormonal and genetic risk factors in relationship with the aortic dilatation in Turner syndrome. The objectives of the study are as follows: 1. To assess the prevalence of aortic dilatation in Turner syndrome by radiological examination (two-dimensional echocardiography, magnetic resonance imaging). 2. To evaluate the relationship between the congenital cardiovascular anomalies and the aortic dilatation in Turner syndrome patients. 3. To evaluate the association between anthropometric parameters, metabolic disorders, and hormonal disbalance with the aortic dilatation in Turner syndrome. 4. To assess the frequencies of fibrilin-1 (FBN-1) gene SNP’s rs10519177 and rs211818 prevalence in Turner syndrome, and to compare with healthy controls; to evaluate the relationship between the presence of these SNPs and the aortic dilatation in Turner syndrome. 5. To determine the most important predictors of the aortic dilatation in Turner syndrome.[...]