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Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

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BackgroundTo study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties.MethodWe performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y). We investigated the contribution of TS on aortic stiffness in our entire cohort, in bicuspid (BAV) versus tricuspid (TAV) aortic valve-morphology subgroups, and in the younger and older subgroups.ResultsDifferences in aortic properties were only seen at the most proximal aortic level. BAV Turner patients had significantly higher PWV, compared to TAV Turner (p = 0.014), who in turn had significantly higher PWV compared to controls (p = 0.010). BAV Turner patients had significantly larger ascending aortic (AA) luminal area and lower AA distensibility compared to both controls (all p < 0.01) and TAV Turner patients. TAV Turner had similar AA luminal areas and AA distensibility compared to Controls. Functional changes are present in younger and older Turner subjects, whereas ascending aortic dilation is prominent in older Turner patients. Clinically relevant dilatation (TAV and BAV) was associated with reduced distensibility.ConclusionAortic stiffening and dilation in TS affects the proximal aorta, and is more pronounced, although not exclusively, in BAV TS patients.Functional abnormalities are present at an early age, suggesting an aortic wall disease inherent to the TS. Whether this increased stiffness at young age can predict later dilatation needs to be studied longitudinally.Electronic supplementary materialThe online version of this article (doi:10.1186/s12968-017-0331-0) contains supplementary material, which is available to authorized users.

Though percutaneous treatment of aortic coarctation in TS patients is effective, it is associated with serious morbidity and mortality. These risks suggest that alternative treatment options should be carefully weighed against percutaneous stenting strategies. © 2016 Wiley Periodicals, Inc.

BackgroundDetailed multidimensional assessment of patent foramen ovale (PFO) size with transesophageal echocardiography (TOE) may help to determine PFO pathogenicity in cryptogenic stroke patients. We explored the potential additive value of Live xPlane and three‐dimensional (3D) TOE anatomical PFO sizing techniques.MethodsImaging data of 45 patients who underwent a 3D TOE‐assisted percutaneous PFO closure were studied. The two‐dimensional (2D) PFO separation distance and right‐to‐left (RL) contrast shunt magnitude were assessed on preprocedural TOE recordings. Peri‐procedural measurements of the triangular anatomical PFO opening (base, height, and area) were performed after positioning of a stiff guidewire (SW) through the PFO, using Live xPlane imaging and 3D Zoom mode.ResultsThe PFO SW base appeared on average 5 times larger than the preprocedural 2D PFO separation (median difference [IQR] = 13[5] mm; P < .001). For a same PFO separation, the width of the PFO base may vary significantly. The PFO SW base was significantly larger in patients with a large versus a small‐to‐moderate PFO RL contrast shunt (18 vs 15 mm; P = .007) and in those with a spontaneous versus a provoked shunt (18 vs 14 mm; P = .003).ConclusionLive xPlane and 3D Zoom TOE allow peri‐procedural measurement of the largest dimension of a PFO, which is the PFO base. Patients with a large or spontaneous RL contrast shunt appear to have a larger PFO base. The anatomical PFO base dimension may be taken into account for optimization of device and patient selection strategies.

Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41 ± 8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N = 31) if blood pressure exceeded 140/90 mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N = 54) or abnormal (N = 20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.