Cardiac magnetic resonance characterization of atrial pseudo-mass in Erdheim-Chester disease

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6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)

Abstract Hereditary transthyretin amyloidosis (hATTR) is a life-threatening multisystemic disease with sensory-motor peripheral neuropathy, cardiomyopathy and dysautonomia. Although the six-minute walk test (6MWT) is one of the most popular clinical tests to assess functional exercise capacity in cardiopulmonary and neuromuscular diseases, little is known about 6MWT in evaluating hATTR patients. A prospective single-center pilot study was performed in twenty hATTR patients, comparing 6MWT with widely used outcome measures. After 18 months, fourteen patients were re-evaluated. 6MWT performance was highly related with familial amyloidotic polyneuropathy stage and polyneuropathy disability score, and with CMT examination score, neuropathy impairment score-lower limbs and Kumamoto score. There was no correlation with compound autonomic dysfunction test, modified body mass index and numerous indices of heart dysfunction. After 18 months, familial amyloidotic polyneuropathy stage and polyneuropathy disability score systems were not able to reveal any significant change, whereas all other outcome measures significantly worsened. Among the outcome measures monitoring the neuropathic disturbances, neuropathy impairment score-lower limbs showed the highest responsiveness to change (adjusted effect size: 0.79), followed by CMT examination score (0.67), Kumamoto scale (0.65), 6MWT (0.62). 10MWT showed a very small value (0.21). Compound autonomic dysfunction test had a large value (0.91) whereas modified body mass index a small/moderate value (0.49). 6MWT is a simple and sensitive tool to monitor neuropathic involvement but not cardiac dysfunction in hATTR course

Different substrates of non-sustained ventricular tachycardia in post-infarction patients with and without left ventricular dilatation

Background: We investigated the relationship between nonsustained ventricular tachycardia (NSVT) and left ventricular (LV) dilatation, function, remodeling, and scar tissue extent in patients with previous myocardial infarction (MI). Methods and Results: Eighty-two patients (ages 64610 years) with first previous MI were referred for 24-hour electrocardiogram recording and cine and delayed enhancement (DE) cardiac magnetic resonance (CMR). LVvolumes, ejection fraction, systolic wall thickening, sphericity index, and core and peri-infarctual areas of scar tissue by CMR were evaluated. LV dilatation was observed in 39 patients. Episodes of NSVT were recorded in 32 patients: 23 with LV dilatation and 9 without. In the entire population, NSVTwas related to ejection fraction, LV volumes, LV mass, and sphericity index; end-systolic volume (P5.001) resulted in the only independent predictor at multivariate analysis. In patients without LV dilatation, the occurrence of NSVTwas only positively related with percentage of contracting segments with DE (P5.008). Conversely, in patients with LV dilatation, increase in LV mass (P5.020) and end-systolic volume (P5.038) were independent predictors of NSVT. Conclusions: Necrotic and viable myocardium coexistence within the same wall segments predicted occurrence of NSVT in patients without LV dilatation, whereas LV mass and end-systolic volume were predictors of NSVT in those with LV dilatation. (J Cardiac Fail 2010;16:61e68

Quantitative analysis of late gadolinium enhancement in hypertrophic cardiomyopathy

Background: Cardiovascular Magnetic resonance (CMR) with the late gadolinium enhancement (LGE) technique allows the detection of myocardial fibrosis in Hypertrophic cardiomyopathy (HCM). The aim of this study was to compare different methods of automatic quantification of LGE in HCM patients. Methods: Forty HCM patients (mean age 48 y, 30 males) and 20 normal subjects (mean age 38 y, 16 males) underwent CMR, and we compared 3 methods of quantification of LGE: 1) in the SD2 method a region of interest (ROI) was placed within the normal myocardium and enhanced myocardium was considered as having signal intensity>2 SD above the mean of ROI; 2) in the SD6 method enhanced myocardium was defined with a cut-off of 6 SD above mean of ROI; 3) in the RC method a ROI was placed in the background of image, a Rayleigh curve was created using the SD of that ROI and used as ideal curve of distribution of signal intensity of a perfectly nulled myocardium. The maximal signal intensity found in the Rayleigh curve was used as cut-off for enhanced myocardium. Parametric images depicting non enhanced and enhanced myocardium was created using each method. Three investigators assigned a score to each method by the comparison of the original LGE image to the respective parametric map generated. Results: Patients with HCM had lower concordance between the measured curve of distribution of signal intensity and the Rayleigh curve than controls (63.7 ± 12.3 % vs 92.2 ± 2.3%, p < 0.0001)

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

PURPOSE Spinocerebellar ataxias type 2 and 28 (SCA2, SCA28) are autosomal dominant disorders characterized by progressive cerebellar and oculomotor abnormalities. We aimed to investigate cerebellar, brainstem, and extraocular muscle involvement in the mitochondrial SCA28 disease compared with SCA2. METHODS We obtained orbital and brain 1.5 T-magnetic resonance images (MRI) in eight SCA28 subjects, nine SCA2, and nine age-matched healthy subjects. Automated segmentation of cerebellum and frontal lobe was performed using Freesurfer software. Manual segmentations for midbrain, pons, and extraocular muscles were performed using OsiriX. RESULTS Eye movement abnormalities in SCA2 subjects were characterized by slow horizontal saccades. Subjects with SCA28 variably presented hypometric saccades, saccadic horizontal pursuit, impaired horizontal gaze holding, and superior eyelid ptosis. Quantitative brain MRI demonstrated that cerebellar and pons volumes were significantly reduced in both SCA2 and SCA28 subjects compared with controls (P < 0.03), and in SCA2 subjects compared with SCA28 (P < 0.01). Midbrain and frontal lobe volumes were also significantly reduced in SCA2 compared to controls (P < 0.03), whereas these volumes did not differ between SCA2 and SCA28 and between SCA28 and control subjects. The extraocular muscle areas were 37% to 48% smaller in SCA28 subjects compared with controls (P < 0.002), and 14% to 36% smaller compared with SCA2 subjects (P < 0.03). Extraocular muscle areas did not differ between SCA2 and controls. CONCLUSIONS Our MRI findings support the hypothesis of different cerebellar and extraocular myopathic contributions in the eye movement abnormalities in SCA2 and SCA28 diseases. In SCA28, a myopathic defect selectively involving the extraocular muscles supports a specific impairment of mitochondrial energy metabolism

Quantitative comparison between amyloid deposition detected by (99m)Tc-Diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin-related cardiac amyloidosis.

Methods and results 28 patients with transthyretin mutation and a group of 14 controls underwent echocardiography to quantify left ventricular (LV) dimensions and function, and global (G) longitudinal (L), radial (R) and circumferential (C) strain (S). 99mTc-3, 3-diphosphono-1, 2-propanodicarboxylic-acid-scintigraphy (99mTc-DPD) was used to quantify cardiac amyloidosis (CA). 99mTc-DPD revealed accumulation in 14 of 28 patients (CA-group) and no accumulation (no CA-group) in 14 patients. Cardiac accumulation was mild-moderate in 5 (Mild-Moderate CA-group) and severe in 9 patients (Severe CA-group). Severe CA-group showed higher values of LV septal thickness (LVST), posterior wall thickness and E/E' ratio than the no CA-group and the control group (adj. p<0.05). Ejection fraction was similar among groups (p=0.65). GLS was lower (p=<0.001) in severe CA-group (-12.2 ± 4.5) respect to no CA-group (-19.3 ± 3.0) and to the control group (-20.9 ± 2.5). On the contrary, GCS and GRS were lower (p=<0.05) in mild-moderate CA-group (-10.8 ± 4.1 and 9.5 ± 5.7, respectively) respect to the severe CA-group (-18.9 ± 5.1 and 23.9 ± 6.3 respectively), no CA-group (-19.2 ± 4.1 and 28.4 ± 10.2 respectively) and the control group (-23.9 ± 4.4 and 29.9 ± 8.7 respectively). A correlation was found between the scintigraphic heart retention (HR) index and LVST (r=0.72; p<0.001) and E/E' (r=0.46; p=0.03). An inverse tendency was observed between HR and GLS (r=−0.40; p=0.06)

Spectral CT Imaging of Prosthetic Valve Embolization after Transcatheter Aortic Valve Implantation

Transcatheter heart valve (THV) embolization is a rare complication of transcatheter aortic valve implantation (TAVI) generally caused by malpositioning, sizing inaccuracies and pacing failures. The consequences are related to the site of embolization, ranging from a silent clinical picture when the device is stably anchored in the descending aorta to potentially fatal outcomes (e.g., obstruction of flow to vital organs, aortic dissection, thrombosis, etc.). Here, we present the case of a 65-year-old severely obese woman affected by severe aortic valve stenosis who underwent TAVI complicated by embolization of the device. The patient underwent spectral CT angiography that allowed for improved image quality by means of virtual monoenergetic reconstructions, permitting optimal pre-procedural planning. She was successfully re-treated with implantation of a second prosthetic valve a few weeks later.</p

Methodological approach for evaluating the geo-exchange potential: VIGOR Project

In the framework of VIGOR Project, a national project coordinated by the Institute of Geosciences and Earth Resources (CNR-IGG) and sponsored by the Ministry of Economic Development (MiSE), dedicated to the evaluation of geothermal potential in the regions of the Convergence Objective in Italy (Puglia, Calabria, Campania and Sicily), is expected to evaluate the ability of the territory to heat exchange with the ground for air conditioning of buildings. To identify the conditions for the development of low enthalpy geothermal systems collected and organized on a regional scale geological and stratigraphic data useful for the preparation of a specific thematic mapping, able to represent in a synergistic and simplified way the physical parameters (geological, lithostratigraphic, hydrogeological, thermodynamic) that most influence the subsoil behavior for thermal exchange. The litho-stratigraphic and hydrogeological database created for every region led to the production of different cartographic thematic maps, such as the thermal conductivity (lithological and stratigraphical), the surface geothermal flux, the average annual temperature of air, the climate zoning, the areas of hydrogeological restrictions. To obtain a single representation of the geo-exchange potential of the region, the different thematic maps described must be combined together by means of an algorithm, defined on the basis of the SINTACS methodology. The purpose is to weigh the contributions of the involved parameters and to produce a preliminary synthesis map able to identify the territorial use of geothermal heat pump systems, based on the geological characteristics and in agreement with the existing regulatory constraints

A machine-learning based bio-psycho-social model for the prediction of non-obstructive and obstructive coronary artery disease

Background: Mechanisms of myocardial ischemia in obstructive and non-obstructive coronary artery disease (CAD), and the interplay between clinical, functional, biological and psycho-social features, are still far to be fully elucidated. Objectives: To develop a machine-learning (ML) model for the supervised prediction of obstructive versus non-obstructive CAD. Methods: From the EVA study, we analysed adults hospitalized for IHD undergoing conventional coronary angiography (CCA). Non-obstructive CAD was defined by a stenosis &lt; 50% in one or more vessels. Baseline clinical and psycho-socio-cultural characteristics were used for computing a Rockwood and Mitnitski frailty index, and a gender score according to GENESIS-PRAXY methodology. Serum concentration of inflammatory cytokines was measured with a multiplex flow cytometry assay. Through an XGBoost classifier combined with an explainable artificial intelligence tool (SHAP), we identified the most influential features in discriminating obstructive versus non-obstructive CAD. Results: Among the overall EVA cohort (n = 509), 311 individuals (mean age 67 ± 11&nbsp;years, 38% females; 67% obstructive CAD) with complete data were analysed. The ML-based model (83% accuracy and 87% precision) showed that while obstructive CAD was associated with higher frailty index, older age and a cytokine signature characterized by IL-1β, IL-12p70 and IL-33, non-obstructive CAD was associated with a higher gender score (i.e., social characteristics traditionally ascribed to women) and with a cytokine signature characterized by IL-18, IL-8, IL-23. Conclusions: Integrating clinical, biological, and psycho-social features, we have optimized a sex- and gender-unbiased model that discriminates obstructive and non-obstructive CAD. Further mechanistic studies will shed light on the biological plausibility of these associations. Clinical trial registration: NCT02737982