Bone Mineral Density and Vascular Calcification in Children and Young Adults With CKD 4 to 5 or on Dialysis.

Introduction: Older adults with chronic kidney disease (CKD) can have low bone mineral density (BMD) with concurrent vascular calcification. Mineral accrual by the growing skeleton may protect young people with CKD from extraosseous calcification. Our hypothesis was that children and young adults with increasing BMD do not develop vascular calcification. Methods: This was a multicenter longitudinal study in children and young people (5-30 years) with CKD stages 4 to 5 or on dialysis. BMD was assessed by tibial peripheral quantitative computed tomography (pQCT) and lumbar spine dual-energy X-ray absorptiometry (DXA). The following cardiovascular imaging tests were undertaken: cardiac computed tomography for coronary artery calcification (CAC), ultrasound for carotid intima media thickness z-score (cIMTz), pulse wave velocity z-score (PWVz), and carotid distensibility for arterial stiffness. All measures are presented as age-adjusted and sex-adjusted z-scores. Results: One hundred participants (median age 13.82 years) were assessed at baseline and 57 followed up after a median of 1.45 years. Trabecular BMD z-score (TrabBMDz) decreased (P = 0.01), and there was a nonsignificant decrease in cortical BMD z-score (CortBMDz) (P = 0.09). Median cIMTz and PWVz showed nonsignificant increase (P = 0.23 and P = 0.19, respectively). The annualized increase in TrabBMDz (ΔTrabBMDz) was an independent predictor of cIMTz increase (R 2 = 0.48, ß = 0.40, P = 0.03). Young people who demonstrated statural growth (n = 33) had lower ΔTrabBMDz and also attenuated vascular changes compared with those with static growth (n = 24). Conclusion: This hypothesis-generating study suggests that children and young adults with CKD or on dialysis may develop vascular calcification even as their BMD increases. A presumed buffering capacity of the growing skeleton may offer some protection against extraosseous calcification.

The burden of subclinical cardiovascular disease in children and young adults with chronic kidney disease and on dialysis.

BACKGROUND: Cardiovascular disease (CVD) is a common cause of morbidity and mortality even in young people with chronic kidney disease (CKD). We examined structural and functional CV changes in patients ˂30 years of age with CKD Stages 4 and 5 and on dialysis. METHODS: A total of 79 children and 21 young adults underwent cardiac computed tomography for coronary artery calcification (CAC), ultrasound for carotid intima-media thickness (cIMT), carotid-femoral pulse wave velocity (cfPWV) and echocardiography. Differences in structural (CAC, cIMT z-score, left ventricular mass index) and functional (carotid distensibility z-score and cfPWV z-score) measures were examined between CKD Stages 4 and 5 and dialysis patients. RESULTS: Overall, the cIMT z-score was elevated [median 2.17 (interquartile range 1.14-2.86)] and 10 (10%) had CAC. A total of 16/23 (69.5%) patients with CKD Stages 4 and 5 and 68/77 (88.3%) on dialysis had at least one structural or functional CV abnormality. There was no difference in the prevalence of structural abnormalities in CKD or dialysis cohorts, but functional abnormalities were more prevalent in patients on dialysis (P < 0.05). The presence of more than one structural abnormality was associated with a 4.5-fold increased odds of more than one functional abnormality (95% confidence interval 1.3-16.6; P < 0.05). Patients with structural and functional abnormalities [cIMT z-score >2 standard deviation (SD) or distensibility <-2 SD) had less carotid dilatation (lumen:wall cross-sectional area ratio) compared with those with normal cIMT and distensibility. CONCLUSIONS: There is a high burden of subclinical CVD in young CKD patients, with a greater prevalence of functional abnormalities in dialysis compared with CKD patients. Longitudinal studies are required to test these hypothesis-generating data and define the trajectory of CV changes in CKD.

Native aorto-ostial coronary lesions on CT coronary angiogram.

Aorto-ostial coronary lesions (AOLs) are important to detect due to the high risk of catastrophic consequences. Unfortunately, due to the complexities of these lesions, they may be missed on invasive coronary angiography. Computed tomography coronary angiogram (CTCA) is highly sensitive and specific in detecting AOLs, and has the additional advantage of demonstrating the surrounding anatomy. CTCA is particularly useful when assessing for AOL aetiologies in addition to atherosclerotic disease, e.g. Congenital anomalies, extrinsic Compression, Iatrogenic, Arteritis and Other, such as Thrombus, Embolism, Dissection and Spasm. This gives rise to "CIAO (TEDS)" as a proposed aide-mémoire and will form the structure of this pictorial review.

Enhanced 3D visualization for planning biventricular repair of double outlet right ventricle: a pilot study on the advantages of virtual reality.

Aims: We aim to determine any additional benefit of virtual reality (VR) experience if compared to conventional cross-sectional imaging and standard three-dimensional (3D) modelling when deciding on surgical strategy in patients with complex double outlet right ventricle (DORV). Methods and results: We retrospectively selected 10 consecutive patients with DORV and complex interventricular communications, who underwent biventricular repair. An arterial switch operation (ASO) was part of the repair in three of those. Computed tomography (CT) or cardiac magnetic resonance imaging images were used to reconstruct patient-specific 3D anatomies, which were then presented using different visualization modalities: 3D pdf, 3D printed models, and VR models. Two experienced paediatric cardiac surgeons, blinded to repair performed, reviewed each case evaluating the suitability of repair following assessment of each visualization modalities. In addition, they had to identify those who had ASO as part of the procedure. Answers of the two surgeons were compared to the actual operations performed. There was no mortality during the follow-up (mean = 2.5 years). Two patients required reoperations. After review of CT/cardiac magnetic resonance images, the evaluators identified the surgical strategy in accordance with the actual surgical plan in 75% of the cases. When using 3D pdf this reached only 70%. Accordance improved to 85% after revision of 3D printed models and to 95% after VR. Use of 3D printed models and VR facilitated the identification of patients who required ASO. Conclusion: Virtual reality can enhance understanding of suitability for biventricular repair in patients with complex DORV if compared to cross-sectional images and other 3D modelling techniques.

Coronary plaque burden in Turner syndrome a coronary computed tomography angiography study.

Turner syndrome (TS) is associated with coronary artery disease (CAD), an important cause of premature death in TS. However, the determinants of CAD in women with TS remain unknown. In a cross-sectional study design, 168 women without clinical evidence of CAD (115 with TS and 53 without TS) were assessed for the presence and volume of subclinical CAD using coronary CT angiography. Karyotype, the presence of congenital heart defects and conventional cardiovascular risk factors were also registered. Comparative analyses were performed (1) between women with and without TS and (2) in the TS group, between women with and without subclinical CAD. The prevalence of CAD, in crude and adjusted analyses, was not increased for women with TS (crude prevalence: 40 [35%] in TS vs. 25 [47%] in controls, p = 0.12). The volume of atherosclerosis was not higher in women with TS compared with controls (median and interquartile range 0 [0-92] in TS vs. 0 [0-81]mm3 in controls, p = 0.29). Among women with TS, women with subclinical CAD were older (46 ± 13 vs. 37 ± 11 years, p < 0.001), had higher blood pressure (systolic blood pressure 129 ± 16 vs. 121 ± 16 mmHg, p < 0.05) and were more frequently diagnosed with type 2 diabetes (5 [13%] vs. 2 [3%], p < 0.05). Karyotype or congenital heart defects were not associated with subclinical CAD. Some women with TS show early signs of CAD, however overall, not more than women without TS. Conventional cardiovascular risk factors were the principal determinants of CAD also in TS, and CAD prevention strategies should be observed.ClinicalTrial.gov Identifier: NCT01678261 ( https://clinicaltrials.gov/ct2/show/NCT01678261 ).

Rapid whole-heart CMR with single volume super-resolution.

BACKGROUND: Three-dimensional, whole heart, balanced steady state free precession (WH-bSSFP) sequences provide delineation of intra-cardiac and vascular anatomy. However, they have long acquisition times. Here, we propose significant speed-ups using a deep-learning single volume super-resolution reconstruction, to recover high-resolution features from rapidly acquired low-resolution WH-bSSFP images. METHODS: A 3D residual U-Net was trained using synthetic data, created from a library of 500 high-resolution WH-bSSFP images by simulating 50% slice resolution and 50% phase resolution. The trained network was validated with 25 synthetic test data sets. Additionally, prospective low-resolution data and high-resolution data were acquired in 40 patients. In the prospective data, vessel diameters, quantitative and qualitative image quality, and diagnostic scoring was compared between the low-resolution, super-resolution and reference high-resolution WH-bSSFP data. RESULTS: The synthetic test data showed a significant increase in image quality of the low-resolution images after super-resolution reconstruction. Prospectively acquired low-resolution data was acquired ~× 3 faster than the prospective high-resolution data (173 s vs 488 s). Super-resolution reconstruction of the low-resolution data took < 1 s per volume. Qualitative image scores showed super-resolved images had better edge sharpness, fewer residual artefacts and less image distortion than low-resolution images, with similar scores to high-resolution data. Quantitative image scores showed super-resolved images had significantly better edge sharpness than low-resolution or high-resolution images, with significantly better signal-to-noise ratio than high-resolution data. Vessel diameters measurements showed over-estimation in the low-resolution measurements, compared to the high-resolution data. No significant differences and no bias was found in the super-resolution measurements in any of the great vessels. However, a small but significant for the underestimation was found in the proximal left coronary artery diameter measurement from super-resolution data. Diagnostic scoring showed that although super-resolution did not improve accuracy of diagnosis, it did improve diagnostic confidence compared to low-resolution imaging. CONCLUSION: This paper demonstrates the potential of using a residual U-Net for super-resolution reconstruction of rapidly acquired low-resolution whole heart bSSFP data within a clinical setting. We were able to train the network using synthetic training data from retrospective high-resolution whole heart data. The resulting network can be applied very quickly, making these techniques particularly appealing within busy clinical workflow. Thus, we believe that this technique may help speed up whole heart CMR in clinical practice.

Aortic growth rates are not increased in Turner syndrome-a prospective CMR study.

BACKGROUND: Aortic disease is a key determinant of outcomes in Turner syndrome (TS). The present study characterized aortic growth rates and outcomes over nearly a decade in adult women with TS. METHODS AND RESULTS: Prospective observational study assessing aortic diameters twice with cardiovascular magnetic resonance imaging in women with TS [N = 91; mean follow-up 8.8 ± 3.3 (range 1.6-12.6) years] and healthy age-matched female controls [N = 37; mean follow-up 6.7 ± 0.5 (range 5.9-8.1) years]. Follow-up also included aortic outcomes and mortality, antihypertensive treatment and ambulatory blood pressure. Aortic growth rates were similar or smaller in TS, but the variation was larger. The proximal aorta in TS grew by 0.20 ± 0.26 (mid-ascending) to 0.32 ± 0.36 (sinuses) mm/year. This compared to 0.26 ± 0.14 (mid-ascending) and 0.32 ± 0.17 (sinuses) mm/year in the controls. During 799 years at risk, 7 suffered an aortic outcome (1 aortic death, 2 aortic dissections, 2 aortic interventions, 2 surgical aortic listings) with further 2 aortic valve replacements. At baseline, two women were excluded. One died during subacute aortic surgery (severe dilatation) and one had a previously undetected type A dissection. The combined aortic outcome rate was 1126 per 100 000 observation years. The aortic and all-cause mortality rates were 1 per 799 years (125 deaths per 100 000 observation years) and 9 per 799 years (1126 deaths per 100 000 observation years). Aortic growth patterns were particularly perturbed in bicuspid aortic valves (BAV) and aortic coarctation (CoA). CONCLUSION: Aortic growth rates in TS are not increased. BAVs and CoA are major factors that impact aortic growth. Aortic outcomes remain a concern.

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

OBJECTIVES: We studied cardiac autonomic changes in relation to metabolic factors, body composition and 24-hour ambulatory blood pressure measurements in Turner syndrome patients without known hypertension. DESIGN: Cross sectional. PATIENTS: Participants were 48 TS women and 24 healthy female controls aged over 18 years. METHODS: Short-term power spectral analysis was obtained in supine-standing-supine position. Bedside tests included three conventional cardiovascular reflex tests of heart rate response to standing up, heart rate response to deep breathing and blood pressure response to standing up. Mean heart rate during the last 2 minutes of work was used to calculate the maximal aerobic power (VO2max ). RESULTS: We found a significantly higher mean reciprocal of the heart rate per second (RR) in TS. Testing for interaction between position and status (TS or control), there were highly significant differences between TS and controls in high-frequency (HF) power, the coefficient of component variation (square root of HF power/mean RR) and low-frequency (LF): HF ratio, with a dampened decline in vagal activity among TS during standing. Bedside test showed TS had a significantly higher diastolic BP in the supine position compared to controls, and the adaptive rise in BP, when changing to upright position was reduced. VO2max and self-reported level of physical activity were significantly correlated to systolic ambulatory blood pressure both 24-hour and night diastolic ambulatory blood pressure. CONCLUSION: Vagal tone and modulation of the sympathovagal balance during alteration in body position are impaired in TS. These changes can be risk factors for cardiovascular disease.

Real-time assessment of right and left ventricular volumes and function in children using high spatiotemporal resolution spiral bSSFP with compressed sensing.

BACKGROUND: Real-time cardiovascular magnetic resonance (CMR) assessment of ventricular volumes and function enables data acquisition during free-breathing. The requirement for high spatiotemporal resolution in children necessitates the use of highly accelerated imaging techniques. METHODS: A novel real-time balanced steady state free precession (bSSFP) spiral sequence reconstructed using Compressed Sensing (CS) was prospectively validated against the breath-hold clinical standard for assessment of ventricular volumes in 60 children with congenital heart disease. Qualitative image scoring, quantitative image quality, as well as evaluation of biventricular volumes was performed. Standard BH and real-time measures were compared using the paired t-test and agreement for volumetric measures were evaluated using Bland Altman analysis. RESULTS: Acquisition time for the entire short axis stack (~ 13 slices) using the spiral real-time technique was ~ 20 s, compared to ~ 348 s for the standard breath hold technique. Qualitative scores reflected more residual aliasing artefact (p < 0.001) and lower edge definition (p < 0.001) in spiral real-time images than standard breath hold images, with lower quantitative edge sharpness and estimates of image contrast (p < 0.001). There was a small but statistically significant (p < 0.05) overestimation of left ventricular (LV) end-systolic volume (1.0 ± 3.5 mL), and underestimation of LV end-diastolic volume (- 1.7 ± 4.6 mL), LV stroke volume (- 2.6 ± 4.8 mL) and LV ejection fraction (- 1.5 ± 3.0%) using the real-time technique. We also observed a small underestimation of right ventricular stroke volume (- 1.8 ± 4.9 mL) and ejection fraction (- 1.4 ± 3.7%) using the real-time imaging technique. No difference in inter-observer or intra-observer variability were observed between the BH and real-time sequences. CONCLUSIONS: Real-time bSSFP imaging using spiral trajectories combined with a compressed sensing reconstruction showed good agreement for quantification of biventricular metrics in children with heart disease, despite slightly lower image quality. This technique holds the potential for free breathing data acquisition, with significantly shorter scan times in children.

Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study.

BACKGROUND: Women with Turner Syndrome have an increased risk for aortic dissection. Arterial stiffening is a risk factor for aortic dilatation and dissection. Here we investigate if arterial stiffening can be observed in Turner Syndrome patients and is an initial step in the development of aortic dilatation and subsequent dissection. METHODS: Fifty-seven women with Turner Syndrome (48 years [29-66]) and thirty-six age- and sex-matched controls (49 years [26-68]) were included. Distensibility, blood pressure, carotid-femoral pulse wave velocity (PWV), the augmentation index (Aix) and central blood pressure were determined using cardiovascular magnetic resonance, a 24-h blood pressure measurement and applanation tonometry. Aortic distensibility was determined at three locations: ascending aorta, transverse aortic arch, and descending aorta. RESULTS: Mean aortic distensibility in the descending aorta was significantly lower in Turner Syndrome compared to healthy controls (P = 0.02), however, this was due to a much lower distensibility among Turner Syndrome with coarctation, while Turner Syndrome without coarctation had similar distensibility as controls. Both the mean heart rate adjusted Aix (31.4% vs. 24.4%; P = 0.02) and central diastolic blood pressure (78.8 mmHg vs. 73.7 mmHg; P = 0.02) were higher in Turner Syndrome compared to controls, and these indices correlated significantly with ambulatory night-time diastolic blood pressure. The presence of aortic coarctation (r = - 0.44, P = 0.005) and a higher central systolic blood pressure (r = - 0.34, P = 0.03), age and presence of diabetes were inversely correlated with aortic distensibility in TS. CONCLUSION: Aortic wall function in the descending aorta is impaired in Turner Syndrome with lower distensibility among those with coarctation of the aorta, and among all Turner Syndrome higher Aix, and elevated central diastolic blood pressure when compared to sex- and age-matched controls. TRIAL REGISTRATION: The study was registered at ClinicalTrials.gov ( #NCT01678274 ) on September 3, 2012.

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome.

Turner syndrome is caused by complete or partial loss of the second sex chromosome, occurring in ~1 in 2,000 female births. There is a greatly increased incidence of aortopathy of unknown etiology, including bicuspid aortic valve (BAV), thoracic aortic aneurysms, aortic dissection and rupture. We performed whole exome sequencing on 188 Turner syndrome participants from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Related Conditions (GenTAC). A gene-based burden test, the optimal sequence kernel association test (SKAT-O), was used to evaluate the data with BAV and aortic dimension z-scores as covariates. Genes on chromosome Xp were analyzed for the potential to contribute to aortopathy when hemizygous. Exome analysis revealed that TIMP3 was associated with indices of aortopathy at exome-wide significance (p = 2.27 x 10(-7)), which was replicated in a separate cohort. The analysis of Xp genes revealed that TIMP1, which is a functionally redundant paralogue of TIMP3, was hemizygous in >50% of our discovery cohort and that having only one copy of TIMP1 increased the odds of having aortopathy (OR = 9.76, 95% CI = 1.91-178.80, p = 0.029). The combinatorial effect of a single copy of TIMP1 and TIMP3 risk alleles further increased the risk for aortopathy (OR = 12.86, 95% CI = 2.57-99.39, p = 0.004). The products of genes encoding tissue inhibitors of matrix metalloproteinases (TIMPs) are involved in development of the aortic valve and protect tissue integrity of the aorta. We propose that the combination of X chromosome TIMP1 hemizygosity and variants of its autosomal paralogue TIMP3, significantly increases the risk of aortopathy in Turner syndrome.

Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association.

Girls and women with Turner syndrome face a lifelong struggle with both congenital heart disease and acquired cardiovascular conditions. Bicuspid aortic valve is common, and many have left-sided heart obstructive disease of varying severity, from hypoplastic left-sided heart syndrome to minimal aortic stenosis or coarctation of the aorta. Significant enlargement of the thoracic aorta may progress to catastrophic aortic dissection and rupture. It is becoming increasingly apparent that a variety of other cardiovascular conditions, including early-onset hypertension, ischemic heart disease, and stroke, are the major factors reducing the life span of those with Turner syndrome. The presentations and management of cardiovascular conditions in Turner syndrome differ significantly from the general population. Therefore, an international working group reviewed the available evidence regarding the diagnosis and treatment of cardiovascular diseases in Turner syndrome. It is recognized that the suggestions for clinical practice stated here are only the beginning of a process that must also involve the establishment of quality indicators, structures and processes for implementation, and outcome studies.

Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan.

Cardiovascular imaging is essential to providing excellent clinical care for girls and women with Turner syndrome (TS). Congenital and acquired cardiovascular diseases are leading causes of the lifelong increased risk of premature death in TS. Non-invasive cardiovascular imaging is crucial for timely diagnosis and treatment planning, and a systematic and targeted imaging approach should combine echocardiography, cardiovascular magnetic resonance and, in select cases, cardiac CT. In recent decades, evidence has mounted for the need to perform cardiovascular imaging in all females with TS irrespective of karyotype and phenotype. This is due to the high incidence of outcome-determining lesions that often remain subclinical and occur in patterns specific to TS. This review provides an overview of state-of-the-art cardiovascular imaging practice in TS, by means of a review of the most recent literature, in the context of a recent consensus statement that has highlighted the role of cardiovascular diseases in these females.

Computed tomography in paediatric heart disease.

Cardiovascular CT (CCT) is an important imaging modality in congenital and acquired paediatric heart disease. Technological advances have resulted in marked improvements in spatial and temporal resolution of CCT with a concomitant increase in speed of data acquisition and a decrease in radiation dose. This has elevated CCT from being sparingly used to an essential diagnostic tool in the daily multimodality imaging practice alongside echocardiography, cardiovascular MR and invasive angiography. The application of CCT in paediatric congenital and acquired heart disease can be both technically and diagnostically challenging. This review highlights important considerations for current state of the art CCT across the spectrum of heart disease encountered in children.

Pulmonary Involvement in Antineutrophil Cytoplasmic Antibodies (ANCA)-associated Vasculitis: The Influence of ANCA Subtype.

OBJECTIVE: To describe pulmonary involvement at time of diagnosis in antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV), as defined by computed tomography (CT). METHODS: Patients with thoracic CT performed on or after the onset of AAV (n = 140; 75 women; granulomatosis with polyangiitis, n = 79; microscopic polyangiitis MPA, n = 61) followed at a tertiary referral center vasculitis clinic were studied. Radiological patterns of pulmonary involvement were evaluated from the CT studies using a predefined protocol, and compared to proteinase 3 (PR3)-ANCA and myeloperoxidase (MPO)-ANCA specificity. RESULTS: Of the patients, 77% had an abnormal thoracic CT study. The most common abnormality was nodular disease (24%), of which the majority were peribronchial nodules, followed by bronchiectasis and pleural effusion (19%, each), pulmonary hemorrhage and lymph node enlargement (14%, each), emphysema (13%), and cavitating lesions (11%). Central airways disease and a nodular pattern of pulmonary involvement were more common in PR3-ANCA-positive patients (p < 0.05). Usual interstitial pneumonitis (UIP) and bronchiectasis were more prevalent in MPO-ANCA-positive patients (p < 0.05). Alveolar hemorrhage, pleural effusion, lymph node enlargement, and pulmonary venous congestion were more frequent in MPO-ANCA-positive patients. CONCLUSION: Pulmonary involvement is frequent and among 140 patients with AAV who underwent a thoracic CT study, almost 80% have pulmonary abnormalities on thoracic CT. Central airway disease occurs exclusively among patients with PR3-ANCA while UIP were mainly seen in those with MPO-ANCA. These findings may have important implications for the investigation, management, and pathogenesis of AAV.

Continuous measurement of aortic dimensions in Turner syndrome: a cardiovascular magnetic resonance study.

BACKGROUND: Severity of thoracic aortic disease in Turner syndrome (TS) patients is currently described through measures of aorta size and geometry at discrete locations. The objective of this study is to develop an improved measurement tool that quantifies changes in size and geometry over time, continuously along the length of the thoracic aorta. METHODS: Cardiovascular magnetic resonance (CMR) scans for 15 TS patients [41 ± 9 years (mean age ± standard deviation (SD))] were acquired over a 10-year period and compared with ten healthy gender and age-matched controls. Three-dimensional aortic geometries were reconstructed, smoothed and clipped, which was followed by identification of centerlines and planes normal to the centerlines. Geometric variables, including maximum diameter and cross-sectional area, were evaluated continuously along the thoracic aorta. Distance maps were computed for TS and compared to the corresponding maps for controls, to highlight any asymmetry and dimensional differences between diseased and normal aortae. Furthermore, a registration scheme was proposed to estimate localized changes in aorta geometry between visits. The estimated maximum diameter from the continuous method was then compared with corresponding manual measurements at 7 discrete locations for each visit and for changes between visits. RESULTS: Manual measures at the seven positions and the corresponding continuous measurements of maximum diameter for all visits considered, correlated highly (R-value = 0.77, P < 0.01). There was good agreement between manual and continuous measurement methods for visit-to-visit changes in maximum diameter. The continuous method was less sensitive to inter-user variability [0.2 ± 2.3 mm (mean difference in diameters ± SD)] and choice of smoothing software [0.3 ± 1.3 mm]. Aortic diameters were larger in TS than controls in the ascending [TS: 13.4 ± 2.1 mm (mean distance ± SD), Controls: 12.6 ± 1 mm] and descending [TS: 10.2 ± 1.3 mm (mean distance ± SD), Controls: 9.5 ± 0.9 mm] thoracic aorta as observed from the distance maps. CONCLUSIONS: An automated methodology is presented that enables rapid and precise three-dimensional measurement of thoracic aortic geometry, which can serve as an improved tool to define disease severity and monitor disease progression. TRIAL REGISTRATION: ClinicalTrials.gov Identifier - NCT01678274 . Registered - 08.30.2012.

Coronary artery anomalies in Turner Syndrome.

BACKGROUND: Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. METHODS: Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. RESULTS: Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. CONCLUSION: Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found.

Multimodality cardiac imaging in Turner syndrome.

Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

Isometric stress in cardiovascular magnetic resonance-a simple and easily replicable method of assessing cardiovascular differences not apparent at rest.

INTRODUCTION: Isometric exercise may unmask cardiovascular disease not evident at rest, and cardiovascular magnetic resonance (CMR) imaging is proven for comprehensive resting assessment. This study devised a simple isometric exercise CMR methodology and assessed the hemodynamic response evoked by isometric exercise. METHODS: A biceps isometric exercise technique was devised for CMR, and 75 healthy volunteers were assessed at rest, after 3-minute biceps exercise, and 5-minute of recovery using: 1) blood pressure (BP) and 2) CMR measured aortic flow and left ventricular function. Total peripheral resistance (SVR) and arterial compliance (TAC), cardiac output (CO), left ventricular volumes and function (ejection fraction, stroke volume, power output), blood pressure (BP), heart rate (HR), and rate pressure product were assessed at all time points. RESULTS: Image quality was preserved during stress. During exercise there were increases in CO (+14.9 %), HR (+17.0 %), SVR (+9.8 %), systolic BP (+22.4 %), diastolic BP (+25.4 %) and mean BP (+23.2 %). In addition, there were decreases in TAC (-22.0 %) and left ventricular ejection fraction (-6.3 %). Age and body mass index modified the evoked response, even when resting measures were similar. CONCLUSIONS: Isometric exercise technique evokes a significant cardiovascular response in CMR, unmasking physiological differences that are not apparent at rest. KEY POINTS: • Isometric exercise unmasks cardiovascular differences not evident at rest. • CMR is the reference standard for non-invasive cardiovascular assessment at rest. • A new easily replicable method combines isometric exercise with CMR. • Significant haemodynamic changes occur and differences are unmasked. • The physiological, isometric CMR stressor can be easily replicated.