The high mortality rate from aortic dissection of women with Turner syndrome (TS) achieving ovum donation pregnancies has highlighted the need for a refinement of cardiac screening protocols. Echocardiography and magnetic resonance imaging (MRI) are used to assess the risk factors, aortic root dilatation, bicuspid aortic valve, and coarctation, but the relative merits of each modality are unclear. Cardiovascular screening was performed in 128 unselected women with TS (mean age +/- SD, 31.1 +/- 8.5 yr) using echocardiography (n = 120) and MRI (n = 115) and in 36 age-matched normal control women. Clinical history, anthropometric measurements, blood pressure, and metabolic parameters were recorded. Echocardiography was normal in 53% of women with TS; MRI was normal in 34%. Aortic root dilatation was identified in 16% of women by echocardiography, 33% on MRI criteria, and 7% by both modalities. Height-adjusted echocardiographic aortic root dimensions were greater in TS than controls (2.90 vs. 2.62 cm; P = 0.010). Bicuspid aortic valve and increasing age were associated with greater aortic dimensions; the latter effect was more marked in TS than controls. On MRI, ascending aortic diameter was greater in TS than control women (2.83 vs. 2.52 cm; P = 0.029), but descending aortic diameter and ascending/descending aortic ratio were not, because these may be affected by the presence of coarctation. The two techniques are complementary and identify different aspects of cardiovascular pathology. Ascending/descending ratio on MRI circumvents issues of stature, but may be influenced by descending aortic abnormalities. We present reference ranges for absolute aortic dimensions in a TS population to aid future interpretation of these measurements.

Women with TS have greater IMT and conduit artery diameters than normal controls. Similarly, increased IMT in TS and 46,XX PA women suggests that estrogen deficiency contributes to intimal thickening. Interventional studies are required to determine the extent to which blood pressure and estrogen deficiency may be appropriate therapeutic targets to reduce cardiovascular risk in TS.

Obesity, predominantly centrally distributed, is common in women with Turner syndrome (TS) and is thought to contribute to the increased risk of atherosclerosis; however, insulin concentrations are unexpectedly low. To explore this discrepancy, we assessed fat content and distribution by magnetic resonance imaging (MRI) and bioelectrical impedance (BI). Six nondiabetic, estrogen-treated women with TS were compared with six age-matched normal controls of similar body mass index. Clinical history, anthropometric measurements, biochemical markers, and MRI and BI measures of adiposity were assessed. TS women had increased intrahepatocellular lipids (IHCL) on MRI. After height adjustment, they also had an excess of total and visceral compared with sc adipose tissue (AT) than controls, without elevated insulin concentrations. BI and MRI measures correlated strongly for total and sc, but not visceral, AT in TS. IHCL was associated with cumulative estrogen-deficient years (r = 0.928; P = 0.008). Women with TS depart from the classical picture of metabolic syndrome despite an excess of total and visceral AT on MRI. Elevated IHCL in TS is associated with estrogen deficiency. BI may be useful to estimate total body fat, but does not reliably localize fat depots in TS.

Increasing doses of HRT result in a reduction in carotid IMT in young hypogonadal women, along with increased serum HDL and decreased plasma glucose. This study raises the possibility that exogenous oestrogen may be cardioprotective in young women, but this observation needs to be balanced against a prothrombotic effect which is predominant in postmenopausal women.