A gray zone: Role of transesophageal echocardiography before atrial tachycardia catheter ablation.

INTRODUCTION: There is a lack of studies in the literature directly investigating the relationship between atrial tachycardia (AT) and left atrial (LA)/left atrial appendage (LAA) thrombus, and current guidelines do not provide strong recommendations regarding the use of transesophageal echocardiography (TEE) before AT catheter ablation. This study aims to elucidate the relationship between AT and the presence of LA/LAA thrombus and contribute to the literature on the use of TEE before AT catheter ablation. METHODS: This single-center retrospective observational study screened patients who underwent TEE between February 10, 2019, and February 10, 2023. Patients were assigned to the AT patient and control groups. TEE was conducted to exclude thrombus in the AT ablation group. The control group included patients who underwent TEE for interatrial septum evaluation and had LA imaging during TEE but did not have atrial arrhythmia. To mitigate bias between the AT patient group and the control group, they were randomized 1:1 using propensity-score matching (PSM). Following randomization, each group consisted of 49 patients. RESULTS: All analyses were conducted after PSM. There were no statistically significant differences between the AT patient and control groups in terms of baseline clinical characteristics and echocardiographic features. Additionally, no significant differences were found between the blood viscosities calculated at low and high shear rates in both groups. The study revealed a significant difference between the two groups in the presence of LA spontaneous echo contrast (SEC) (24.5% in AT group vs 0% in Control group, p = .001), but not in the presence of thrombi (8.2% in AT group vs 0% in Control group, p = .117). CONCLUSION: Compared to the control group, the presence of SEC was significantly higher in the AT patient group. The increased frequency of SEC in AT patients suggests the hypothesis that AT may contribute to LA stasis. The routine use of TEE before AT catheter ablation remains controversial, despite the presence of LA thrombus and SEC in the AT patient group. The clinical assessment of thrombus presence before the procedure must be conducted on a patient-specific basis.

Pulmonary vascular alterations in explanted lung after transplantation.

Widespread pulmonary destruction and fibrosis can be seen in end-stage pulmonary diseases. This situation causes vascular remodeling of the pulmonary circulation and pulmonary hypertension. Lung transplantation is an alternative treatment for end-stage pulmonary diseases. The purpose of this study is to research pathological vascular alterations retrospectively in explanted lungs with or without pulmonary hypertension. 57 explanted lungs were evaluated for occlusive intimal fibroelastosis, smooth muscle proliferation, medial hypertrophy, intimal cellular or fibrous thickening, hemosiderosis, plexiform lesion, angiomatoid lesion, arteriosclerosis, venopathy, capillary duplication and arteriovenous malformation. Both systolic and mean pulmonary artery pressures were defined. The relationship between vascular patterns and pulmonary hypertension was investigated. Pathological vascular alterations in explanted lungs with or without pulmonary hyper- tension included medial hypertrophy (80.71%), intimal cellular or fibrous thickening (80.7%), arteriosclerosis (77.19%), smooth muscle proliferation (55.3%) and arteriovenous malformation (50.3%). Hemosiderosis (12.5%), plexiform lesion (14%) and venopathy (21%) were less frequent pathological vascular alterations. Capillary duplication was common in secondary pulmonary hypertension and was statistically meaningful. Although medial hypertrophy and intimal thickness were seen in pulmonary hypertension, they can also be observed in end-stage pulmonary diseases without pulmonary hypertension. Interstitial capillary duplication was an important histopathological finding in end-stage lung diseases with pulmonary arterial hypertension.

Importance of lead aVR on predicting adverse cardiac events in patients with noncompaction cardiomyopathy.

BACKGROUND: Noncompaction cardiomyopathy (NCCM) is a relatively rare cardiac abnormality with high rates of mortality and morbidity. T-wave amplitudes during ventricular repolarization in lead aVR (TaVR) have been reported to be associated with the prognosis of various cardiovascular diseases. This study sought to investigate the prevalence and prognostic role of positive TaVR in patients with NCCM. METHODS: We evaluated consecutive 161 patients with NCCM (65.8% men, mean age 42.5 ± 15.2 years old). Presentation electrocardiogram was assessed regarding classical parameters as well as T-wave amplitudes in lead aVR. The primary endpoint was defined as composite lethal arrhythmic events, including sudden cardiac death, ventricular fibrillation, or sustained ventricular tachycardia or appropriate implantable cardioverter-defibrillator shock. Heart failure requiring hospitalization, cardiovascular death, and all-cause mortality were also investigated as secondary endpoints. RESULTS: Patients with positive TaVR showed higher rates for arrhythmic events, hospitalization for heart failure, and death compared with patients without it. In multivariate Cox model, after adjusting for other known clinical and electrocardiographic risk factors, the positive TaVR was found to be a strong independent predictor of primary endpoint (HR: 4.8, 95% CI: 1.2-19.3; p = .025) and all-cause death (HR: 3.5, 95% CI: 1.0-12.1; p = .045). CONCLUSION: Our findings revealed that positive TaVR is significantly and independently associated with adverse outcomes in NCCM patients. This unique ECG criterion in the often ignored lead provides incremental information beyond what is available with other traditional risk factors.

Where is the right ventricle? Accurate diagnosis with cardiovascular multimodality imaging.

Endomyocardial fibrosis (EMF) is a globally unattended disease with significant rates of morbidity and mortality. It has a higher prevalence in tropical and subtropical countries compared to the rest of the world. Endomyocardial fibrosis can affect the atrioventricular valves, along with all four chambers of the heart, but spares the myocardium. Patients currently undergo symptomatic treatment with diuretics and vasodilators to enhance quality of life, although medical therapy alone is associated with poor prognosis. Hence, patients with severe symptoms prefer surgical treatment. Modern multimodality imaging, however, can help these definitions to be made more accurately.

Subclinical cardiac disease in ankylosing spondylitis.

OBJECTIVES: To investigate aortic stiffness and subclinical left ventricular systolic dysfunction in ankylosing spondylitis (AS) patients. METHODS: A cross-sectional study of 55 AS patients being treated with antitumor necrosis factor alpha (anti-TNF-α) biological agents, conventional synthetic disease-modifying antirheumatic drugs (csDMARDS), and non steroidal anti-inflammatory drugs (NSAIDs) and 20 controls matched for conventional cardiovascular risk factors. Aortic stiffness, ejection fraction, and left ventricular global longitudinal strain (LVGLS) were evaluated using transthoracic echocardiography and 2D Doppler echocardiography. RESULTS: Aortic stiffness was higher in AS patients when compared to controls (P = 0.009). Stiffness increased in those being treated with csDMARDs when compared to the control group and those on anti-TNF-α biologics (P ˂0.001). AS patients' LVGLS values were worse than those of the control group (P < 0.001) and also worse in patients on csDMARDs and anti-TNF-α biologics when compared to those being treated with NSAIDs (P < 0.001). CONCLUSIONS: Subclinical cardiac dysfunction occurs in AS patients despite well controlled musculoskeletal disease. Aortic stiffness and LVGLS increases in AS patients. Anti-TNF biological agents may somewhat protect arterial compliance. We believe that all AS patients should be investigated for cardiac dysfunction and followed up accordingly.

The effects of air pollution and weather conditions on the incidence of acute myocardial infarction.

OBJECTIVE: In this retrospective study, we investigated the association between air pollution and weather conditions with the incidence of acute myocardial infarction (AMI) in the city of Kutahya. METHODS: A total of 402 patients who were admitted with acute ST segment elevation MI and non-ST segment elevation MI were included in the study in 1 year. Daily maximum, minimum, and mean ambient temperature and mean barometric pressure data were obtained from the Kutahya Meteorology Department. Daily air pollution data were obtained from the Web site of National Air Quality Observation Network (http://www.havaizleme.gov.tr). RESULTS: Increase in ambient air temperature in the day of MI and 2 days before the day of MI according to their control days was correlated with increase in number of MI cases. When we grouped the patients according to ages as 30-54, 55-65, and >65 years, we found that there was a relation between sulfur dioxide (SO2) and the occurrence of AMI for the age group of 30-54 for the same day (D0) (P<.017). The number of AMIs was the lowest in fall season, whereas the number of AMIs was the highest in winter season. CONCLUSION: There was no statistically significant association between the particulates with diameter b=10 µm, SO2 concentrations, air pressure, and the risk of AMI, but there was statistically significant relation between occurrence of MI and SO2 for the patients under age of 55 years. The number of AMIs was the lowest in fall season, whereas the number of AMIs was the highest in winter season.

Intracardiac thrombus in Behçet's disease: four new cases and a comprehensive literature review.

Behçet's disease (BD) is a multisystem inflammatory disorder. Intracardiac thrombus formation (ICTF) is an uncommon but important complication of BD. To highlight recent insights into this disease, we aimed to review ICTF and other systemic involvements associated with ICTF in BD. We conducted a comprehensive review of the relevant literature in MEDLINE and EMBASE from 1966 to 2014 to analyze cumulated data about ICTF in BD. We aimed to evaluate 93 cases of BD with ICT (group 1), four of which have been recently identified and have not been discussed in the relevant literature yet, and to compare the frequency of pulmonary, venous and arterial involvements in group 1 and general Behçet population (group 2). The right heart was the most common site of ICTF in group 1. Pulmonary involvement, venous involvement (especially venous thrombosis) and arterial involvement were more frequent in group 1 than in group 2 (56 vs. 0.7 %, 42 vs. 10 % and 38 vs. 0.8 %, respectively, p < 0.0001). The diagnosis of BD should be considered if a patient presents with a mass in the right-sided cardiac chambers, even in the absence of the characteristic clinical manifestations of the illness. This approach is particularly applicable if the patient is a young man from the Mediterranean basin or the Middle East. All Behçet patients with ICTF must be investigated with thoracic computed tomography for pulmonary and arterial involvements and lower extremity venous Doppler ultrasonography for venous thrombosis, regardless of whether they are symptomatic for these systems.

Left ventricular pseudoaneurysm after mitral valve replacement: Review of pseudoaneurysms late after mitral valve replacement.

Left ventricular pseudoaneurysm (LVPA) due to incomplete or late rupture after mitral valve replacement is a rare condition but can be life threatening if it develops into perdicardial tamponade. LVPA may develop de novo after the surgical procedure or may be a sequela of an earlier rupture. Clinical presentation includes shortness of breath, heart failure, chest pain, endocarditis, and pericardial tamponade. However, it can also have an asymptomatic course. The recommended treatment for LVPA is surgical repair. Conservative follow-up is an alternative for patients who refuse surgical treatment or are considered high risk for re-operation. We conducted a review of all the available literature on cases of LVPA after mitral valve replacement and present the findings here.

Relation between QRS duration and atrial synchronicity in patients with systolic heart failure.

OBJECTIVES: The association of QRS duration (QRSd) with ventricular dyssynchrony is well-known in systolic heart failure (HF). However, there are no data regarding the relationship between QRSd and atrial dyssynchrony in patients with HF. We aimed to investigate the association of QRSd with intra-atrial and inter-atrial dyssynchrony in patients with systolic HF by using color tissue Doppler imaging (TDI). METHODS: The study consisted of 70 systolic HF patients and 35 healthy controls. According to QRSd, HF patients were categorized into 2 subgroups as narrow QRS (n = 35) and wide QRS (n = 35) groups. Time intervals between the onset of P-wave and the onset of A-wave on color TDI from the right atrium (P-RA), inter-atrial septum (P-IAS) and left atrium (P-LA) were measured. Atrial dyssynchrony was defined as differences between P-RA and P-IAS (RA dyssynchrony), between P-LA and P-IAS (LA dyssynchrony) and between P-RA and P-LA (inter-atrial dyssynchrony). RESULTS: In patients with either HF groups, we observed significant impairment in intra-atrial and inter-atrial synchronicity compared with the controls (P < 0.001). Moreover, LA, RA and inter-atrial synchrony were found to be significantly impaired in the wide QRS group compared to narrow QRS group. There was also a positive and strong correlation between atrial and ventricular dyssynchrony parameters. In stepwise multivariate analysis, QRSd was found to be the independent predictor of intra-atrial and inter-atrial dyssynchrony in systolic HF. CONCLUSION: Among patients with systolic HF, prolonged QRSd is associated with impaired intra-atrial and inter-atrial synchrony. Atrial and ventricular dyssynchrony parameters were well-correlated with each other.

Current barriers and recommendations on the diagnosis of transthyretin amyloid cardiomyopathy: a Delphi study.

Objectives: This study has been conducted to investigate the non-invasive diagnostic journey of patients with a transthyretin amyloid cardiomyopathy (aTTR-CM) in Turkey, identify the challenges and uncertainties encountered on the path to diagnosis from the perspectives of expert physicians, and develop recommendations that can be applied in such cases. Methods: This study employed a three-round modified Delphi method and included 10 cardiologists and five nuclear medicine specialists. Two hematologists also shared their expert opinions on the survey results related to hematological tests during a final face-to-face discussion. A consensus was reached when 80% or more of the panel members marked the "agree/strongly agree" or "disagree/strongly disagree" option. Results: The panelists unanimously agreed that the aTTR-CM diagnosis could be established through scintigraphy (using either 99mTc-PYP, 99mTc-DPD, or 99mTc-HMPD) in a patient with suspected cardiac amyloidosis (CA) without a further investigation if AL amyloidosis is ruled out (by sFLC, SPIE and UPIE). In addition, scintigraphy imaging performed by SPECT or SPECT-CT should reveal a myocardial uptake of Grade ≥2 with a heart-to-contralateral (H/CL) ratio of ≥1.5. The cardiology panelists recommended using cardiovascular magnetic resonance (CMR) and a detailed echocardiographic scoring as a last resort before considering an endomyocardial biopsy in patients with suspected CA whose scintigraphy results were discordant/inconclusive or negative but still carried a high clinical suspicion of aTTR-CM. Conclusion: The diagnostic approach for aTTR-CM should be customized based on the availability of diagnostic tools/methods in each expert clinic to achieve a timely and definitive diagnosis.

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Background: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ. Patients with unexplained left ventricular hypertrophy require an early, confirmed genetic diagnosis through diagnostic or predictive genetic testing. We tested the feasibility and practicality of the application of a 17-gene next-generation sequencing (NGS) panel to detect the most common genetic causes of HCM and HCM phenocopies, including treatable phenocopies, and report detection rates. Identification of transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD) is essential because of the availability of disease-specific therapy. Early initiation of these treatments may lead to better clinical outcomes. Methods: In this international, multicenter, cross-sectional pilot study, peripheral dried blood spot samples from patients of cardiology clinics with an unexplained increased left ventricular wall thickness (LVWT) of ≥13 mm in one or more left ventricular myocardial segments (measured by imaging methods) were analyzed at a central laboratory. NGS included the detection of known splice regions and flanking regions of 17 genes using the Illumina NextSeq 500 and NovaSeq 6000 sequencing systems. Results: Samples for NGS screening were collected between May 2019 and October 2020 at cardiology clinics in Colombia, Brazil, Mexico, Turkey, Israel, and Saudi Arabia. Out of 535 samples, 128 (23.9%) samples tested positive for pathogenic/likely pathogenic genetic variants associated with HCM or HCM phenocopies with double pathogenic/likely pathogenic variants detected in four samples. Among the 132 (24.7%) detected variants, 115 (21.5%) variants were associated with HCM and 17 (3.2%) variants with HCM phenocopies. Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants. The HCM phenocopy variants included variants in the TTR (n=7, 1.3%) and GLA (n=2, 0.4%) genes. The mean (standard deviation) ages of patients with HCM or HCM phenocopy variants, including TTR and GLA variants, were 42.8 (17.9), 54.6 (17.0), and 69.0 (1.4) years, respectively. Conclusions: The overall diagnostic yield of 24.7% indicates that the screening strategy effectively identified the most common forms of HCM and HCM phenocopies among geographically dispersed patients. The results underscore the importance of including ATTR-CA (TTR variants) and FD (GLA variants), which are treatable disorders, in the differential diagnosis of patients with increased LVWT of unknown etiology.

Naples Prognostic Score and Clinical Outcomes in Pulmonary Arterial Hypertension Patients.

Objectives: Pulmonary arterial hypertension (PAH) is a specific form of pulmonary hypertension characterized by an increased mean pulmonary arterial pressure. Risk stratification is crucial in managing PAH, using various clinical, laboratory, and imaging parameters. The Naples prognostic score (NPS), incorporating nutritional and inflammatory markers, has demonstrated prognostic value in other conditions but not in PAH. The goal of this study was to appraise the importance of NPS as a prognostic indicator for patients with PAH. Methods: This retrospective study involved 101 PAH patients. Echocardiographic, laboratory, and right heart catheterization data were collected. Statistical analyses compared variables between survivors and non-survivors, and multivariate logistic regression identified mortality risk factors. Results: Among the 101 patients, 18 died within the follow-up period. The mortality group showed elevated levels of B-type natriuretic peptide (BNP) and significantly higher median NPS. Patients were categorized based on their NPS scores, revealing higher mortality in Group 2. Multivariate logistic regression identified age and BNP levels as independent predictors of mortality. The inclusion of NPS in the model further reinforced its association with mortality. Conclusion: The study suggests that NPS is linked to poor outcomes in PAH patients. NPS, a straightforward and easily calculated score, holds the potential to predict the clinical trajectory of PAH, offering advantages for risk assessment in this population.

The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.

BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. METHODS: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both genders, genetic analysis was performed by DNA Sanger sequence analysis. RESULTS: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (≤2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2  patients (0.5%), these patients were considered to have probable but not 'definite Fabry disease' due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance. CONCLUSION: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests.

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

BACKGROUND: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. METHODS: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. RESULTS: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. CONCLUSIONS: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.

Shone's complex with dextrocardia and situs inversus totalis: a case report.

Parachute mitral valve complex is an unusual congenital anomaly that has been described by Shone et al. It is characterized by a parachute deformity of the mitral valve associated with additional forms of left heart anomalies, such as aortic valvular stenosis and coarctation of the aorta. A 21-year-old female who was referred to our department because of progressive dyspnea on effort and at rest and minimal cyanosis is presented in this case report. On cardiac auscultation, the patient had a grade III/VI pansystolic murmur best heard at the lower left sternal border. The chest X-ray demonstrated dextrocardia and mild cardiomegaly. Echocardiographic evaluation revealed Shone's complex, including parachute mitral valve anomaly.

Prevalence of cardiac involvement in home-based recovered coronavirus disease 2019 (COVID-19) patients: a retrospective observational study.

OBJECTIVE: Coronavirus disease 2019 (COVID-19) has a risk of cardiac arrhythmia, acute coronary syndrome, heart failure and myocarditis, and the prognosis of COVID-19 has been associated with cardiovascular symptoms. However, there has not been enough information about cardiovascular involvement in patients who had recovered home-based mild symptoms of COVID-19 infection. Therefore, this study evaluates the prevalence of cardiac involvement and associated factors in home-based recovered COVID-19 patients. SUBJECT AND METHODS: A total of 64 participants who applied to cardiology outpatient clinics with cardiac symptoms after recovering from COVID infection were recorded between April and December 2020. The patients were divided into two according to cardiovascular involvement in the cardiovascular magnetic resonance (CMR) imaging results. RESULTS: No significant difference between the two groups regarding age and co-morbidities. Patients with cardiac involvement had higher C-reactive protein compared to without cardiac involvement patients. A total of 46 patients who recently recovered from COVID-19 had abnormal CMR findings such as myocardial late gadolinium enhancement or pericardial enhancement. In addition, the left ventricular ejection fraction and stroke volume were significantly lower in the cardiac involvement patients. CONCLUSION: We demonstrate cardiac involvement in 46 patients (71%) with recent COVID-19, independent of pre-existing conditions. This indicates that there may be widespread cardiac involvement without high troponin values or severe clinical symptoms.

Tc-99m pyrophosphate scintigraphy for cardiac amyloidosis: concordance between planar and SPECT/CT imaging.

The imaging protocol and the optimal cut-off points for quantitative assessment of technetium-99m pyrophosphate (Tc-99m PYP) cardiac amyloidosis scintigraphy remain controversial. The aim of this study was to evaluate the concordance between planar and SPECT images, and to investigate the contribution of SPECT/CT to diagnostic precision. All patients referred to our department for Tc-99m PYP cardiac imaging between April 2019 and April 2022 were included in the study. Heart-to-contralateral lung (H/CL) ratios were calculated from anterior planar images at both 1- and 3 h, and visual grading was done in SPECT/CT images at both time points. A total of 141 patients were included in the study (median age 59 years, 54% female). There was a strong positive correlation between H/CL ratios calculated at 1- and 3 h (Pearson's ρ = 0.842, p < 0.001). The highest level of concordance between planar and SPECT/CT images was achieved at a H/CL cut-off point of 1.5 for 1-h images, and 1.4 for 3-h images. SPECT/CT imaging contributed to diagnostic precision in both 1- and 3-h images by reducing the rate of equivocal results from 83% (n = 117) to 25% (n = 35), and from 77% (n = 108) to 27% (n = 38), respectively. Our findings have three implications: (1) planar imaging at both 1- and 3 h could be redundant, (2) a lower H/CL cut-off point for 3-h planar images could improve concordance between planar and SPECT imaging, and (3) SPECT/CT in both 1- and 3 h could improve the diagnostic precision by offering markedly reduced equivocal results.

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.

Selvester score predicts implantable cardioverter defibrillator shocks in patients with non-ischemic cardiomyopathy.

BACKGROUND: The implantable cardiac defibrillator is the cornerstone of prevention of sudden cardiac death in non-ischemic cardiomyopathy. The Selvester score, which is frequently investigated in ischemic cardiomyopathy, has not been investigated in the field of non-ischemic cardiomyopathy. AIM: The aim of this study was to evaluate the Selvester score for determining appropriate implantable cardiac defibrillator shocks in non-ischemic cardiomyopathy patients. MATERIALS AND METHODS: In all, 131 non-ischemic cardiomyopathy patients were included in the study. A simplified Selvester score was calculated from ECG data. Patients were divided into two groups according to whether they received ICD shock. RESULTS: Of the patients, 28.2% received appropriate implantable cardiac defibrillator shock. The Selvester score was significantly higher in patients receiving appropriate shock when compared to patients with no implantable cardiac defibrillator shocks (8.8 ± 4.6 vs 7.2 ± 3.3, P = .040). The median QRS duration was significantly longer in patients receiving appropriate shock than in patients with no shocks (130.14 ± 35.08 ms vs 120.12 ± 20.57 ms, P = .045). We determined that the cutoff value for the Selvester score to predict ICD shocks was 6.5 with a sensitivity of 72.0% and a specificity of 83% (AUC = 0.717; %95 GA: 0.627-0.807, P < .001). CONCLUSION: Selvester score was higher in patients receiving appropriate shock than in patients who did not receive any implantable cardiac defibrillator shock. From this study, the Selvester score is associated with the risk of ventricular tachycardia/ventricular fibrillation in non-ischemic cardiomyopathy so that careful attention is necessary to manage the patients with high Selvester score.

Whole blood viscosity in the evaluation of thrombogenic milieu in mitral stenosis.

Aim: We aimed to assess the association of whole blood with thromboembolic milieu in significant mitral stenosis patients. Methodology & results: We included 122 patients and classified patients into two groups as having thrombogenic milieu, thrombogenic milieu (+), otherwise patients without thrombogenic milieu, thrombogenic milieu (-). Whole blood viscosity (WBV) in both shear rates were higher in thrombogenic milieu (+) group comparing with thrombogenic milieu (-). WBV at high shear rate and WBV at low shear rate parameters were moderately correlated with grade of spontaneous echo contrast. Adjusted with other parameters, WBV parameters at both shear rates were associated with presence of thrombogenic milieu. Discussion & conclusion: We found that extrapolated WBV at both shear rates was significantly associated with the thrombogenic milieu in mitral stenosis. This easily available parameter may provide additional perspective about thrombogenic diathesis.