bluuebunny/crossref_metadata_2025_split huggingface dataset:
Radiomics-based multimodality prediction of left atrial appendage thrombus using coronary computed tomography angiography
Authors: Xin R , Yang J , Chen Y 
Published: October 2024

Abstract

Background
Timely detection of thrombus in the left atrial appendage (LAA) may help guide decision-making. However, existing models have challenges in extracting comprehensive image information. It has been shown that radiomics-based prediction models can be used for accurate identification. This study investigates potential radiomic markers and constructs a highly efficient multimodality prediction model for LAA thrombus in patients undergoing coronary computed tomography angiography (CCTA).

Methods
We retrospectively enrolled patients with nonvalvular atrial fibrillation (NVAF) who underwent CCTA and transesophageal echocardiography (TEE) from May 2015 to May 2020. These patients were classified into thrombus or non-thrombus groups based on TEE findings. The data were balanced by resampling and assigned to training or test sets. Radiomics was conducted on the extracted features, and a random forest algorithm was employed for feature selection and importance ranking. We constructed different multimodality thrombus prediction models and compared their performance using the area under the receiver operating characteristic curve (AUC) and other efficacy parameters.

Results
Among 670 patients (60.17±10.98 years, 70.1% male), 5.2% (n=35) had LAA thrombi. A total of 1232 radiomics features were extracted, with 25 features selected using a random forest for modeling. Two radiomics features (Ibp_3D_m1_firstorder Skewness and original_shape_Flatness) ranked the highest. The radiomics-based multimodality prediction model achieved an AUC of 0.964 (95% confidence interval [CI]: 0.947-0.982), an accuracy of 0.926 (95% CI: 0.925-0.926), and an F1 score of 0.924, outperforming other traditional prediction models. Decision curve analysis also indicated that this model provided the best net clinical benefit.

Conclusions
Radiomics facilitates a comprehensive exploration of predictors associated with LAA thrombi. A radiomics-based multimodality prediction model can significantly enhance the efficiency of non-invasively detecting thrombi.Receiver operating characteristic curveDecision curve analysis
The role of 18fluorine-fluorodeoxyglucose positron emission tomography in the diagnosis, follow-up, and regulation of treatment in patients with cardiac sarcoidosis.
Authors: Bobbio E , Cortas N , Bollano E 
Published: October 2024

Abstract

Background
Cardiac sarcoidosis (CS) is a potentially fatal disease, commonly presenting with arrhythmias, heart failure, or sudden death. Diagnostic challenges persist, particularly due to limited sensitivity of endomyocardial biopsy (20-25%). Alternative diagnostic approaches, such as criteria-based diagnosis, have emerged. 18fluorine-fluorodeoxyglucose positron emission tomography (18F-FDG-PET) has gained prominence in diagnosing CS, monitoring treatment, and serving as a follow-up tool, although its precise role and efficacy remain unclear.

Purpose
This retrospective cohort study sought to characterize patients with CS who underwent at least one 118F-FDG-PET scan. Primary objectives were to explore the impact of 18F-FDG-PET on both the diagnosis and management of CS. Additionally, this study aimed to investigate any differences in patient outcomes based on the results of their first follow-up 18F-FDG-PET scan.

Methods
Medical records of 69 patients with CS who underwent at least one 18F-FDG-PET scan were analyzed. The study calculated the proportion of 18F-FDG PET scans influencing CS treatment and diagnosis, with 56 patients undergoing at least two scans. Among these, 53 patients were categorized into two groups based on their first follow-up scan results (group 1:no change/progress, group 2:regress). Statistical analyses included independent t-tests, the Mann-Whitney test, and Fisher's exact test. Outcome measures included death, heart transplantation or aborted cardiac death, with survival analyzed by Kaplan-Meier statistics.

Results
Among 69 patients, 204 18F-FDG-PET scans were conducted, with 47% directly influencing treatment decisions. Twenty-five patients were diagnosed with CS through 18F-FDG-PET. While no significant differences were observed regarding demographics and clinical features, the results suggested potential differences in event-free survival (p=0.084;Figure 1) and sex (p=0.08) between the groups.

Conclusions
18F-FDG-PET has emerged as a pivotal tool in regulating treatment, diagnosing, and monitoring CS patients, playing a fundamental role in assessing treatment response. However, further studies are needed.
Cardiac magnetic resonance T1 imaging for the diagnosis of cardiac amyloidosis among patients with symptomatic heart failure
Authors: Gessner R , Unger L , Hagendorff A , Kluge R , Laufs U , Lavall D 
Published: October 2024

Abstract

Background
Cardiac amyloidosis (CA) is a significant cause of heart failure in elderly patients. However, specific signs in cardiac imaging are lacking, hence bone scintigraphy in combination with screening for monoclonal protein, or myocardial biopsy is required for the diagnosis. Cardiac magnetic resonance (CMR) imaging with T1 mapping is a promising diagnostic tool, which may allow to differentiate causes of left ventricular (LV) hypertrophy, particularly CA.

Purpose
The aim of this study was to test the diagnostic accuracy of T1 mapping for the diagnosis of CA in elderly patients with symptomatic heart failure and red flags for CA.

Methods
We prospectively enrolled 120 patients aged above 60 years with symptomatic heart failure NYHA II-IV, LV ejection fraction ≥ 40%, increased LV wall thickness of ≥ 12 mm end-diastolic on echocardiography, and elevated cardiac biomarkers (N-terminal pro-B-type natriuretic peptide (NT-proBNP) ≥ 1,000 ng/L, high-sensitivity cardiac troponin T (hs-cTnT) ≥ 14 ng/L). All patients underwent standardized quantitative CMR with a 3.0T scanner. 99mTc-DPD bone scintigraphy, blood screening for monoclonal protein, and, where applicable, cardiac biopsy, were performed as reference methods in all patients. Primary endpoint was diagnostic accuracy of native T1 mapping for the diagnosis of CA.

Results
112 patients were included in the final analysis. Median age was 81.0 years (interquartile range 74.0–85.0 years), and 45% were female. CA was diagnosed in 38 patients (34%), of which 32 suffered from a Transthyretin (ATTR) and 6 patients from light chain (AL) amyloidosis. The areas under the receiver operating characteristic curves for native T1 were 0.713, 0.772, 0.836 for global, septal short-axis (SAX), and septal 4-chamber (4Ch) view measurements. The corresponding value of extracellular volume fraction (ECV) was 0.904 (Figure 1). Based on these results, we developed a new diagnostic algorithm for the diagnosis of CA including T1 septal 4Ch and ECV, with a sensitivity and positive predictive value of both 92.9% and a specificity and negative predictive value of 95.8% (Figure 2). Thereby, contrast application can be avoided in 33% of patients. A definite diagnosis could be provided in 81%.

Conclusion
CMR with T1 imaging provides a high diagnostic accuracy to diagnose CA in patients with symptomatic heart failure at risk for CA. These data may help to identify underlying causes in heart failure which require specific treatment. An earlier diagnosis of CA may improve outcome of these patients.Figure 1Figure 2
Prevalence of pathogenic variants in cardiomyopathy-associated genes in acute myocarditis: a systematic review and meta-analysis
Authors: Monda E , Bakalakos A , Cannie D , O'mahony C , Syrris P , Kaski J P , Limongelli G , Elliott P M 
Published: October 2024

Abstract

Background
Acute myocarditis is an inflammatory condition that may precede the development of dilated or arrhythmogenic cardiomyopathy.

Objectives
To investigate the reported prevalence of pathogenic/likely pathogenic (P/LP) variants in cardiomyopathy-associated genes in patients with acute myocarditis.

Methods
For this systematic review and meta-analysis, we searched Pubmed and Embase databases on March 04, 2023. Observational studies evaluating the prevalence of P/LP variants in cardiomyopathy-associated genes in patients with acute myocarditis were included. Studies were stratified into adult and pediatric age groups and for the following scenarios: (a) complicated myocarditis (i.e., presenting with acute heart failure, reduced left ventricular ejection fraction, or life-threatening ventricular arrhythmias); (b) uncomplicated myocarditis. The study followed PRISMA guidelines.

Results
Of 732 studies identified, 8 met the inclusion criteria, providing data for 586 patients with acute myocarditis. A total of 89 P/LP variants in cardiomyopathy-associated genes were reported in 85 patients. In uncomplicated myocarditis the pooled prevalence was 4.2% (95% CI 1.8-7.4%, I2 1.4%), while in complicated myocarditis pooled prevalence was 21.9% (95% CI 14.3-30.5%, I2 38.8%) and 44.5% (95% CI 22.7-67.4%, I2 52.8%) in adults and children, respectively. P/LP variants in desmosomal genes were predominant in uncomplicated myocarditis (64%), while sarcomeric gene variants were more prevalent in complicated myocarditis (58% in adults and 71% in children).

Conclusions
Genetic variants are present in a large proportion of patients with acute myocarditis. The prevalence of genetic variants and the genes involved vary according to age and clinical presentation.Central Illustration
Mavacamten in a real-world hypertrophic cardiomyopathy population: how many may be eligible?
Authors: Lima M R L , Bello A R B , Maltes S M , Laranjeira T L , Cunha G C , Adragao P A , Rocha B R , Aguiar C A 
Published: October 2024

Abstract

Introduction
Mavacamten is a newly approved drug for obstructive hypertrophic cardiomyopathy (oHCM) and is currently being studied in non-obstructive HCM (nHCM). Our goal was to evaluate how often patients with oHCM and nHCM in a real-world cohort would be eligible for the main mavacamten trials: EXPLORER-HCM, VALOR-HCM and MAVERICK-HCM.

Methods
Single-centre retrospective study enrolling consecutive patients with confirmed HCM, as per the 2023 ESC Guidelines, with at least yearly follow-up in our center, from 2017-2023. Key inclusion criteria from the three trials were considered: NYHA class II-III for all; obstructive forms (defined as peak left ventricle outflow tract [LVOT] gradient ≥50 mmHg at rest, after Valsalva manoeuvre or exercise) for EXPLORER-HCM and VALOR-HCM; left ventricular ejection fraction (LVEF) ≥55% for EXPLORER-HCM and MAVERICK-HCM; LVEF ≥60% and formal criteria for septal reduction therapy for VALOR-HCM, and NT-proBNP ≥300pg/mL for MAVERICK-HCM. Key exclusion criteria (estimated glomerular filtration rate [eGFR] &lt;30mL/kg/1.73m2, QTc using the Fridericia’s formula &gt;500ms, paroxysmal or intermittent atrial fibrillation present on screening electrocardiograph) were also considered.

Results
Overall, 410 patients were diagnosed with HCM, of whom 361 (88%) were alive at follow-up and included in the analysis: mean age of 63 ± 16 years, 196 (54%) were male, 272 (75%) with septal HCM and 60 (17%) with oHCM. According to the criteria of EXPLORER-HCM, VALOR-HCM and MAVERICK-HCM, 35 (10%), 6 (2%) and 27 (7%) patients would be eligible for enrolment, respectively. In patients with oHCM, 35 (58%) would be eligible for the EXPLORER-HCM trial. In the overall cohort, 65 (18%) would have criteria for at least one of the trials. The main reasons for exclusion were as follows: 191 (53%) NYHA I, 43 (12%) with NYHA IV, 12 (3%) had a LVEF &lt;55%, 8 (2%) had both HCM and infiltrative myocardial disease and/or moderate-to-severe aortic stenosis and 8 (2%) had an eGFR &lt;30mL/kg/1.73m2. In patients with nHCM, 16 (5%) would have been excluded due to NT-proBNP &lt;300pg/mL and 8 (3%) due to paroxysmal atrial fibrillation.

Conclusion
In a real-word HCM cohort, we found that approximately 1 in every 5 patients would have criteria for either of the mavacamten trials, with more than half of oHCM being potential candidates for the EXPLORER-HCM. The main reasons for non-eligibility were NYHA I and LVEF &lt;55%.
Assessing the alignment of obstructive hypertrophic cardiomyopathy pharmacological treatments with ESC guidelines in Germany
Authors: Sedaghat-Hamedani F , Zema C , Schultze M , Garcia T , Kossack N , Hernandez E M , Bluhmki T , Krause T , Schmoelders J , Meder B 
Published: October 2024

Abstract

Introduction
The European Society of Cardiology (ESC) recently updated treatment guidelines for hypertrophic cardiomyopathy (HCM).

Purpose
The aim of this study was to describe the treatment of obstructive HCM in Germany and assess alignment with the 2014 and 2023 ESC guidelines.

Methods
Adults with HCM were identified using a nationally representative administrative claims dataset (WIG2 Benchmark database) from several German Statutory Health Insurances between 2012 and 2018. Obstructive HCM was identified as any obstructive HCM diagnosis (ICD-10: I42.1) or any HCM diagnosis (I42.2, I42.9) with septal reduction therapy. The index date was defined as the date where the patient met all eligibility criteria for HCM. Minimum follow-up time was set to one year. Patients had at least 1 year of baseline data prior to the index HCM diagnosis and were followed up for at least 1 year after the diagnosis (or until death within 1 year). Patients with phenocopies were excluded. ESC guideline-directed pharmacological treatments for HCM included beta-blockers (BB), calcium channel blockers (CCB), disopyramide, and/or mavacamten (approved by EMA June 2023). While the 2014 ESC Guidelines on Diagnosis and Management of HCM were applicable during the study, recommendations pertaining to the use of non-vasodilating BBs and non-dihydropyridine (DHP) CCBs did not change in the 2023 ESC Guidelines for the Management of Cardiomyopathies; thus, this study applies to both.

Results
Out of 6793 patients with HCM analysed in the period 2012-2018, 1,141 had obstructive HCM. The average follow-up was 5 years. Patients were mostly male (62%) with a mean age of 60 years. Hypertension, hyperlipidaemia, coronary artery disease, heart failure, and atrial fibrillation were among the most common comorbidities; the mean Charlson Comorbidity Index score was 2.3. At index, 46% of patients were on BB monotherapy, 23% were on CCB monotherapy, &lt;1% were on a combination of BBs or a combination of CCBs, 9% were on a combination of BBs and CCBs, and as many as 22% received no HCM treatment. Patients experienced 1615 unique treatment combinations throughout the study across all lines of therapy (Table 1). The most common treatments were bisoprolol (24%), metoprolol (19%), amlodipine (12%), and verapamil (12%). The use of propranolol was negligible (1%). 43% of pharmacological treatments were not in line with ESC guidelines. The most common reason for not aligning was using DHP-CCBs or vasodilating BBs.

Conclusion
This study shows that 57% of obstructive HCM treatments received by patients during the study were aligned with recommendations from the 2023 ESC guidelines on cardiomyopathies. Research is needed to investigate barriers and enablers to implementing the guideline including awareness of recommended treatments, as well as the management of comorbidities.
Effect of trimetazidine dihydrochloride therapy on myocardial external efficiency in preclinical individuals with an HCM sarcomeric gene mutation
Authors: Van Driel B , Schoonvelde S , Borodzicz-Jazdzuk S , Huurman R , Visch J , Robbers L , Van Den Aardweg J , Germans T , Michels M , Van Der Velden J 
Published: October 2024

Abstract

Background
Hypertrophic cardiomyopathy (HCM) is frequently caused by pathogenic gene variants, i.e. mutations in genes encoding sarcomere proteins. Previous studies have shown that preclinical asymptomatic individuals with a heterozygous sarcomere mutation have decreased myocardial external efficiency (MEE), which is thought to be a key pathomechanism in the onset and progression of HCM.

Purpose
In the ENERGY trial, preclinical individuals with an HCM sarcomere gene mutation without hypertrophy were treated with the metabolic anti-anginal drug trimetazidine (TMZ) to determine whether the reduced MEE can be corrected at an early pre-hypertrophic disease stage.

Methods
40 MYBPC3 and MYH7 asymptomatic mutation carriers without hypertrophy were treated for eight weeks with TMZ or placebo in a double-blind randomized study design. Directly before and after treatment, study participants underwent an [11C]-acetate PET/CT-scan and cardiac magnetic resonance imaging to measure MEE. A cardio-pulmonary exercise test was performed to measure the influence of TMZ on exercise parameters.

Results
Eight weeks of treatment with TMZ 20mg three times daily did not significantly alter MEE compared to placebo. The mean MEE changed from 30.3±3.8 percent to 29.8±4.3 percent in the placebo group and from 30.1±4 percent to 29.1±4 percent in the TMZ group. After adjustment for baseline, the TMZ group did not have a significantly different MEE (95% CI, -2.863 to 1.986, P=0.68) compared to placebo. Exercise parameters VO2max and respiratory exchange ratio were not significantly altered by treatment with TMZ.

Conclusion
The ENERGY trial is the first proof-of-concept randomized controlled trial with well-matched (age, sex, mutation) groups to test the hypothesis that TMZ improves MEE at a preclinical disease stage. We conclude that metabolic therapy does not correct reduced MEE in an early disease stage of HCM.methodsprimary outcome
Phenotype progression in pediatric RASopathy-associated hypertrophic cardiomyopathy
Authors: Boleti O , Monda E , Norrish G , Field E , Cervi E , Limongelli G , Kaski J P 
Published: October 2024

Abstract

Background
RASopathy syndromes represent the second most common cause of hypertrophic cardiomyopathy (HCM) in children. RASopathy associated HCM (Ras-HCM) has been shown to differ both in cardiac phenotype and long-term outcomes from sarcomeric HCM. However, there is a lack of knowledge from large cohort studies of how the cardiac phenotype of Ras-HCM changes over time.

Aim
To describe cardiac phenotype changes over time in children with Ras-HCM

Methods
Retrospective data from 148 patients diagnosed with Ras-HCM aged &lt;18 years with ³2 follow-up visits were included. Clinical and echocardiographic data were collected at baseline assessment, 1, 2, and 5 years of follow up. Separate analyses were performed for patients who survived, versus patients who died or had a heart transplant (censoring events).

Results
One-hundred-and-two (68.9%) patients with Noonan syndrome, 25 (16.9%) with Noonan-syndrome with multiple lentigines, 10 (6.8%) with Costello syndrome, 9 (6.1%) with cardio-facio-cutaneous syndrome and 2 (1.4%) patients with Noonan-like syndrome with a median age of diagnosis 0.16 years (0.01-0.89) were seen at a median baseline age of 1.41 years (0.37-5.71) and followed up for a median of 12.1 years (4.8-17.4). During follow up, 18 patients (12.2%) died at a median age of 1.8 years (0.5-8.7) and 17 (12.5%) had a left ventricular myectomy, at a median age of 7.0 years (3.1-12.7). At baseline evaluation, patients who died compared to those who survived had a lower median age [0.4 years (0.1-0.8) versus 2.3 years (0.5-7.6), p&lt;0.001], a higher proportion of them had a NYHA class&gt;I (54.5% vs 15.1%, p&lt;0.001), a higher maximal left ventricular wall thickness (MLVWT) z-score [13.4 (7.5) vs 9.6 (6.2), p=0.04], a higher proportion of left ventricular outflow tract obstruction (LVOTO) [64.7% vs 43.8%, p=0.087] and a higher proportion of biventricular hypertrophy [75% vs 49.2%, p=0.045]. For survivors, the MLVWT z-score improved over follow up [+9.6(6.2) at baseline vs. +7.9(5.5) at 5 years, p=0.072], and the proportion of patients with LVOTO (43.8% at baseline vs. 27.9% at 5 years, p=0.019) and biventricular hypertrophy (49.2% at baseline vs. 35.5% at 5 years, p=0.012) decreased over follow up.

Conclusion
While at baseline evaluation Ras-HCM has a high burden of symptoms, biventricular hypertrophy and LVOTO for patients who die or have a heart transplant, we have demonstrated that for survivors, over follow up, the phenotype becomes milder.Table 1
The obesity paradox in patients with hypertrophic cardiomyopathy: A Korean nationwide cohort study
Authors: Soh M , Park J H , Park B H , Lee G N 
Published: October 2024

Abstract

Background
In cardiomyopathies, obesity is known to affect the cardiac remodeling and is associated with a poor prognosis. However, in hypertrophic cardiomyopathy, which is included in the category of heart failure with preserved ejection fraction, the risk of underweight has been suggested, and its impact in practice is controversial.

Purpose
The aim of this study was to investigate the potential relationship between obesity and cardiovascular outcomes in patients diagnosed with hypertrophic cardiomyopathy.

Methods
We conducted a retrospective national cohort study from 2013 to 2020 utilizing administrative claims data and health check-up database from the Korean National Health Insurance Service. Patients newly diagnosed with hypertrophic cardiomyopathy from January 2015 to December 2019 were included. Body mass index was stratified into five groups based on the World Health Organization's recommended criteria for Asian populations, and patients were followed until the date of each outcome or the end of the study period. Predefined clinical outcomes included heart failure hospitalization events, fatal arrest events, all-cause death, and composite clinical outcomes.

Results
A total of 6,361 patients were included in the study, with a mean age was 60 ± 13 years and 32.6% female. During a median follow-up of 3.0 years (interquartile range, 1.8 to 4.3), 921 heart failure hospitalization, 185 fatal arrest, and 340 deaths occurred. The underweight group had higher adjusted hazard ratios for heart failure hospitalization, fatal arrest, all-cause death, and the composite outcome compared to the normal range body mass index group (HR 1.69, 95% CI 1.16-2.47; HR 2.29, 95% CI 1.06-4.93; HR 2.74, 95% CI 1.77-4.24; HR 1.77, 95% CI 1.28-2.45). In addition, the adjusted hazard ratios for the composite outcome were lower in the overweight and obese I group compared to the normal range (HR 0.80, 95% CI 0.68-0.95; HR 0.84, 95% CI 0.72-0.98).

Conclusions
Among patients with hypertrophic cardiomyopathy, those classified as underweight had an increased risk of heart failure hospitalization, fatal arrest, all-cause death, and composite outcomes compared with normal weight patients, while those classified as overweight and obese had a decreased risk of composite outcomes.