"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.

BACKGROUND: Familial hypercholesterolemia (FH) increases the risk of atherosclerosis in children and adults. Atherosclerotic cardiovascular disease in young patients FH is usually subclinical but recognition of children with more pronounced changes is crucial for adjusting effective management. Aim of this research was to use ultrasonography with two-dimensional speckle tracking (2DST) and tonometry to evaluate atherosclerotic changes in patients with FH (parents and their offspring). METHODS: Applanation tonometry and carotid arteries sonography with evaluation of the intima-media complex thickness (IMCT) and application of the 2DST were performed in 20 families with FH (20 parents and 29 children). The same size control group (age and sex matched) was included. Results were compared between peers and between generations together with the correlation analysis. RESULTS: Adults with FH, in comparison with healthy peers, presented significantly more atherosclerotic plaques (9 vs. 2, p = 0.0230), had significantly thicker IMC (0.84 ± 0.19 vs. 0.56 ± 0.06 mm, p < 0.0001) and had stiffer arterial wall (for stain: 6.25 ± 2.3 vs. 8.15 ± 2.46, p = 0.0103). In children from both groups there were no atherosclerotic plaques and IMCT did not differ significantly (0.42 ± 0.07 vs. 0.39 ± 0.04, p = 0.1722). However, children with FH had significantly stiffer arterial wall according to 2DST (for strain: 9.22 ± 3.4 vs. 11.93 ± 3.11, p = 0.0057) and tonometry (for the pulse wave velocity: 4.5 ± 0.64 vs.3.96 ± 0.62, p = 0.0047). These parameters correlated with atherosclerosis surrogates in their parents (p < 0.001) but were not significantly affected by presence of presumed pathogenic gene variant. CONCLUSIONS: Children with FH presented subclinical atherosclerosis manifested as decreased arterial wall elasticity. Degree of stiffening was associated with advancement of atherosclerosis in their parents but did not present significant association with gene variants. Sonography with application of 2DST seems to be a good candidate for comprehensive evaluation of atherosclerosis in families with FH.

Two-Dimensional Speckle Tracking Versus Applanation Tonometry in Evaluation of Subclinical Atherosclerosis in Children with Type 1 Diabetes Mellitus.

BACKGROUND Patients with type 1 diabetes mellitus (T1DM) often develop atherosclerosis at an early age. In the subclinical stage of the process, minimal/non-morphological changes can be noticed, but the arterial wall function can be impaired. Applanation tonometry allows to assess the arterial tree stiffness; however, the Two-Dimensional Speckle Tracking (2DST) is an increasingly accepted alternative. This study evaluated arterial wall stiffness using these 2 techniques in children with T1DM. MATERIAL AND METHODS We performed applanation tonometry and carotid arteries sonography with evaluation of the carotid intima-media thickness (cIMT) and use of the 2DST in 50 children with T1DM and in 50 healthy sex- and age-matched controls. We also assessed the reliability of 2DST in 10 random subjects. RESULTS Children with T1DM had increased arterial wall stiffness, which was confirmed by tonometry (PWV: p=0.0386) and 2DST (Strain: p=0.0004; Strain rate: p=0.0081). There was no significant difference in cIMT between groups (0.45±0.06 vs. 0.43±0.05, p=0.073 in children with T1DM and controls, respectively). 2DST presented good intraclass correlation coefficient between researchers and within a single researcher. CONCLUSIONS Children with T1DM presenting with subclinical stage of atherosclerosis were found to have arterial wall stiffening. The 2DST, the same as applanation tonometry, allows to recognize this condition but in a more accessible and reproducible manner.

La fusión de imágenes tridimensionales por TAC y RM antes del cateterismo facilita el implante de stent en defectos cardiacos congénitos / Three-dimensional image fusion of precatheter CT and MRI facilitates stent implantation in congenital heart defects

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Magnetic resonance and computed tomography imaging fusion for live guidance of percutaneous pulmonary valve implantation.

INTRODUCTION: Until recently, two-dimensional (2D) angiography was the mainstay of guidance for percutaneous pulmonary valve implantation (PPVI). Recent advances in fusion software have enabled direct fusion of pre-intervention imaging, magnetic resonance imaging (MRI) or computed tomography (CT) scans, to create a reliable three-dimensional (3D) roadmap for procedural guidance. AIM: To report initial two-center experience with direct 2D-3D image fusion for live guidance of PPVI with MRI- and CT-derived 3D roadmaps. MATERIAL AND METHODS: We performed a prospective study on PPVIs guided with the new fusion imaging platform introduced in the last quarter of 2015. RESULTS: 3D guidance with an MRI- (n = 14) or CT- (n = 8) derived roadmap was utilized during 22 catheterizations for right ventricular outflow tract balloon sizing (n = 7) or PPVI (n = 15). Successful 2D-3D registration was performed in all but 1 patient. Six (27%) patients required intra-procedural readjustment of the 3D roadmap due to distortion of the anatomy after introduction of a stiff wire. Twenty-one (95%) interventions were successful in the application of 3D imaging. Patients in the CT group received less contrast volume and had a shorter procedural time, though the differences were not statistically significant. Those in the MRI group had significantly lower weight adjusted radiation exposure. CONCLUSIONS: With intuitive segmentation and direct 2D-3D fusion of MRI or CT datasets, VesselNavigator facilitates PPVI. Our initial data show that utilization of CT-derived roadmaps may lead to less contrast exposure and shorter procedural time, whereas application of MRI datasets may lead to lower radiation exposure.

Feasibility of two-dimensional speckle tracking in evaluation of arterial stiffness: Comparison with pulse wave velocity and conventional sonographic markers of atherosclerosis.

Objective Arterial stiffening is an early marker of atherosclerosis that has a prognostic value for cardiovascular morbidity and mortality. Although many markers of arterial hardening have been proposed, the search is on for newer, more user-friendly and reliable surrogates. One such potential candidate has emerged from cardiology, the speckle-tracking technique. The aim of this study was to evaluate the feasibility of the two-dimensional speckle tracking for the evaluation of arterial wall stiffness in comparison with standard stiffness parameters. Methods Carotid ultrasound and applanation tonometry were performed in 188 patients with no cardiovascular risk factors. The following parameters were then evaluated: the intima-media complex thickness, distensibility coefficient, ß-stiffness index, circumferential strain/strain rate, and pulse wave velocity and augmentation index. These variables were compared with each other and with patient age, and their reliability was assessed with Bland-Altman plots. Results Strain parameters derived from two-dimensional speckle tracking and intima-media complex thickness correlated better with age and pulse wave velocity than standard makers of arterial stiffness. Moreover, the reliability of these measurements was significantly higher than conventional surrogates. Conclusions Two-dimensional speckle tracing is a reliable method for the evaluation of arterial stiffness. Therefore, together with intima-media complex thickness measurement, it offers great potential in clinical practice as an early marker of atherosclerosis.

SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal changes. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet. The vertebral bodies had increased thickness of hyaline cartilage which enveloped ossification centers. The vertebrae and discs also had abnormalities in size, shape and structure. These anomalies were most likely the consequence of notochordal remnants presence within the intervertebral discs and in the vertebral bodies. The advantages of MR imaging in bone dysplasias caused by TRPV4 mutations are emphasized in this article.

Novel Three-Dimensional Image Fusion Software to Facilitate Guidance of Complex Cardiac Catheterization : 3D image fusion for interventions in CHD.

We report initial experience with novel three-dimensional (3D) image fusion software for guidance of transcatheter interventions in congenital heart disease. Developments in fusion imaging have facilitated the integration of 3D roadmaps from computed tomography or magnetic resonance imaging datasets. The latest software allows live fusion of two-dimensional (2D) fluoroscopy with pre-registered 3D roadmaps. We reviewed all cardiac catheterizations guided with this software (Philips VesselNavigator). Pre-catheterization imaging and catheterization data were collected focusing on fusion of 3D roadmap, intervention guidance, contrast and radiation exposure. From 09/2015 until 06/2016, VesselNavigator was applied in 34 patients for guidance (n = 28) or planning (n = 6) of cardiac catheterization. In all 28 patients successful 2D-3D registration was performed. Bony structures combined with the cardiovascular silhouette were used for fusion in 26 patients (93%), calcifications in 9 (32%), previously implanted devices in 8 (29%) and low-volume contrast injection in 7 patients (25%). Accurate initial 3D roadmap alignment was achieved in 25 patients (89%). Six patients (22%) required realignment during the procedure due to distortion of the anatomy after introduction of stiff equipment. Overall, VesselNavigator was applied successfully in 27 patients (96%) without any complications related to 3D image overlay. VesselNavigator was useful in guidance of nearly all of cardiac catheterizations. The combination of anatomical markers and low-volume contrast injections allowed reliable 2D-3D registration in the vast majority of patients.

Does the internal jugular vein affect the elasticity of the common carotid artery?

BACKGROUND: Arterial stiffness is an early marker of atherosclerosis. The carotid arteries are easily accessible by ultrasound and are commonly used for the evaluation of atherosclerosis development. However, this stiffness assessment is based on the elastic properties of the artery, which may be influenced by the adjacent internal jugular vein (IJV). The aim of the present study is to evaluate the influence of internal jugular vein morphology on the stiffness of the common carotid artery. METHODS: Bilateral carotid ultrasound was performed in 248 individuals. When no carotid plaque was detected (90.9 % cases), the distensibility coefficient and ß - stiffness index were calculated. The global and segmental circumferential strain parameters of the carotid wall were evaluated with 2D-Speckle Tracking. The cross-sectional area of the IJV and degree of its adherence to the carotid wall (angle of adherence) were measured. RESULTS: The morphology of the IJV did not influence the standard stiffness parameters nor the global circumferential strain. However, segmental analysis found the sector adjacent to the IJV to have significantly higher strain parameters than its opposite counterpart. In addition, the strain correlated significantly and positively with IJV cross-sectional area and angle of adherence. CONCLUSIONS: The movement of the carotid artery wall caused by the passage of the pulse wave is not homogeneous. The greatest strain is observed in a segment adjacent to the IJV, and the degree of wall deformation is associated with the size of the vein and the degree of its adherence.