Aortic dilatation and outcome in women with Turner syndrome

Abstract

BackgroundWomen with Turner syndrome (TS) are at increased risk of aortic dissection, which is related to ascending aortic diameter. However, the relation between aortic diameter and outcome is not well determined. This study evaluates the prevalence of aortic dilatation, the growth rate of the aorta and the risk of aortic complications in adults with TS.MethodsSingle centre, retrospective study of all women with TS followed with a strict protocol in an outpatient TS clinic. Aortic diameters were analysed using advanced imaging. The primary outcome was a combined endpoint of aortic-related mortality, aortic dissection and preventive aortic surgery. The secondary endpoint was aortic growth and prevalence of aortic dilatation, defined as an aortic size index >20 mm/m2 at baseline.ResultsAt least one cardiac MR/CT was available in 268 women with TS, having median age of 28.7 (IQR: 21.3–39.7) years. Aortic dilatation was present in 22%. Linear regression identified independent factors associated with larger aortic diameters: age (coefficient=0.23; p<0.001), hypertension (coefficient=2.7; p<0.001), bicuspid aortic valve (coefficient=3.3; p<0.001), 45XO karyotype (coefficient=1.7; p=0.002), weight (coefficient=0.075; p<0.001) and growth hormone treatment (coefficient=1.4; p=0.044). During follow-up (6.8±3.2 years), five women (2%) reached the primary endpoint (two dissections, three aortic surgery). Women withmore than one scan (n=171; 1015 patient-years follow-up), the median aortic growth was 0.20 (IQR: 0.00–0.44) mm/year. In multivariate analysis, aortic growth was not associated with baseline aortic diameter or other variables.ConclusionsAortic dilatation is common and known associations were confirmed in large adult TS cohort However, aortic dissection, related mortality and preventive aortic surgery are rare. Growth hormone treatment in childhood was associated with aortic dimensions.

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

“…Aortic dilatation, entailing a risk for aortic dissection is present in 22% of Turner women and is associated with age, hypertension, bicuspid aortic valve (BAV), XO karyotype and growth hormone treatment. [34][35][36][37] The 22q11.2 deletion (historically also described as DiGeorge syndrome, velocardiofacial syndrome) is the most common microdeletion syndrome in humans, occurring in up to 1/5950 live births. 38,39 One of the main genes in the 22q11.2 region is TBX1, a transcription factor controlling second heart field development.…”

Clinical case report

“…[ 15 , 17 ] Another mechanism suggested the upregulation of pro-inflammatory cytokines contributed to the increasing susceptibility of girls with TS to Autoimmune thyroid disease. [ 18 ] The reasons why the thyroid gland was an autoimmune target in TS patients have not yet been clearly identified, but the predilection could be elucidated based on the close connection between the thyroid autoimmunity and female gender. [ 19 ]…”

Blood pressure, sympathovagal tone, exercise capacity and metabolic status are linked in Turner syndrome

“…This should lead clinicians to monitor BP in all TS at all ages very carefully and initiate treatment when necessary. Taking the grossly increased risk of aortic dilatation and dissection in TS into account, treatment of hypertension should be aggressive and sufficient. The aetiology behind hypertension among females with TS may thus be viewed as happening on a backdrop of altered sympathovagal tone, possibly due to congenital abnormalities of the wiring of the parasympathetic and/or the sympathetic nervous system, frequent congenital malformations of the left side of the heart and dilated branching arteries, increased resting norepinephrine levels, while the renin‐aldosterone system seems to be normal …”