Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.

Background: Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by mutations in the lysosomal-associated membrane 2 gene (), which encodes the LAMP2 protein. In male patients, the predominant phenotype is progressive cardiac hypertrophy, cardiac dysfunction, and early death. There are no directed therapies for the disease.

Burden of atherogenic lipids and association with cardiac allograft vasculopathy in heart transplant recipients.

Background: Cardiac Allograft Vasculopathy (CAV) is a leading cause of morbidity and mortality after heart transplantation. There are limited contemporary studies examining post-transplant lipid management and cardiometabolic health.

Objective: We study the burden of cardiometabolic derangements post transplantation and its impact on CAV in a modern cohort of heart transplant recipients.

New Vistas for the Relationship between Empathy and Political Ideology.

The study of ideological asymmetries in empathy has consistently yielded inconclusive findings. Yet, until recently these inconsistencies relied exclusively on self-reports, which are known to be prone to biases and inaccuracies when evaluating empathy levels. Very recently, we reported ideological asymmetries in cognitive-affective empathy while relying on neuroimaging for the first time to address this question.

A Machine Learning-derived Risk Score Improves Prediction of Outcomes After LVAD Implantation: An Analysis of the INTERMACS Database.

Background: Significant variability in outcomes after left ventricular assist device (LVAD) implantation emphasize the importance of accurately assessing patients' risk before surgery. This study assesses the Machine Learning Assessment of Risk and Early Mortality in Heart Failure (MARKER-HF) mortality risk model, a machine learning-based tool using 8 clinical variables, to predict post-LVAD implantation mortality and its prognostic enhancement over the Interagency Registry of Mechanically Assisted Circulatory Support (INTERMACS) profile.

Methods: Analyzing 25,365 INTERMACS database patients (mean age 56.

Genetic Testing Practices and Pathological Assessments in Patients With End-stage Heart Failure Undergoing Heart Transplantation and Left Ventricular Assist Device Use.

Background: Genetic cardiomyopathies (CMs) are increasingly recognized as causes of end-stage heart failure (ESHF). Identification of a genetic etiology in ESHF has important prognostic and family implications. However, genetic testing practices are understudied in patients with ESHF.

Catheter ablation vs advanced therapy for patients with severe heart failure and ventricular electrical storm.

Background: Current data on outcomes of an initial strategy of catheter ablation vs advanced therapy in patients with severe heart failure (HF) and electric storm (ES) are limited.

Objective: The purpose of this study was to evaluate the outcomes of ventricular tachycardia (VT) ablation vs left ventricular assist device (LVAD) or heart transplantation (HT) in patients with severe HF and ventricular ES.

Methods: Patients with severe HF and ES who underwent VT ablation, LVAD, or HT between 2012 and 2022 at our medical center were reviewed.

Association of Novel Ventricular Assist Device Self-report Measures With Overall Health-Related Quality of Life.

Background: Few study authors examined factors influencing health-related quality of life (HRQOL) early after left ventricular assist device (LVAD) implantation.

Objective: The purpose of this study was to determine whether 5 novel self-report measures and other variables were significantly associated with overall HRQOL at 3 months after LVAD surgery.

Methods: Patients were recruited between October 26, 2016, and February 29, 2020, from 12 US sites.

Spatially clustered type I interferon responses at injury borderzones.

Sterile inflammation after myocardial infarction is classically credited to myeloid cells interacting with dead cell debris in the infarct zone. Here we show that cardiomyocytes are the dominant initiators of a previously undescribed type I interferon response in the infarct borderzone. Using spatial transcriptomics analysis in mice and humans, we find that myocardial infarction induces colonies of interferon-induced cells (IFNICs) expressing interferon-stimulated genes decorating the borderzone, where cardiomyocytes experience mechanical stress, nuclear rupture and escape of chromosomal DNA.

3D regional evaluation of right ventricular myocardial work from cineCT.

Background: Regional myocardial work (MW) is not measured in the right ventricle (RV) due to a lack of high spatial resolution regional strain (RS) estimates throughout the ventricle. We present a cineCT-based approach to evaluate regional RV performance and demonstrate its ability to phenotype three complex populations: end-stage LV failure (HF), chronic thromboembolic pulmonary hypertension (CTEPH), and repaired tetralogy of Fallot (rTOF).

Methods: 49 patients (19 HF, 11 CTEPH, 19 rTOF) underwent cineCT and right heart catheterization (RHC).

Precision Genetic Therapies: Balancing Risk and Benefit in Patients with Heart Failure.

Purpose Of Review: Precision genetic medicine is evolving at a rapid pace and bears significant implications for clinical cardiology. Herein, we discuss the latest advancements and emerging strategies in gene therapy for cardiomyopathy and heart failure.

Recent Findings: Elucidating the genetic architecture of heart failure has paved the way for precision therapies in cardiovascular medicine.

Reduced immunomodulatory metabolite concentrations in peri-transplant fecal samples from heart allograft recipients.

Background: Emerging evidence is revealing the impact of the gut microbiome on hematopoietic and solid organ transplantation. Prior studies postulate that this influence is mediated by bioactive metabolites produced by gut-dwelling commensal bacteria. However, gut microbial metabolite production has not previously been measured among heart transplant (HT) recipients.

Mortality Prediction in Patients With or Without Heart Failure Using a Machine Learning Model.

Background: Most risk prediction models are confined to specific medical conditions, thus limiting their application to general medical populations.

Objectives: The MARKER-HF (Machine learning Assessment of RisK and EaRly mortality in Heart Failure) risk model was developed in heart failure (HF) patients. We assessed the ability of MARKER-HF to predict 1-year mortality in a large community-based hospital registry database including patients with and without HF.

Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations.

Hypertrophic cardiomyopathy (HCM) due to thick filament variants is more common; however, HCM due to thin filament variants (HCM-Thin) may be associated with a more malignant phenotype with an increased risk of sudden cardiac death. The aim of this study was to review all the published cases of HCM-Thin to better understand the natural history and clinical outcomes of this disease. A literature review of HCM-Thin identified 21 studies with a total of 177 patients that were suitable for analysis.

Efficient measurement of multiple ventricular assist device patient-reported outcomes: Creation of a 20-item profile from the MCS A-QOL study.

Background: Patient-reported outcome (PRO) measures of distinct concepts are often put together into patient profile assessments. When brief, profile assessments can decrease respondent burden and increase measure completion rates. In this report, we describe the creation of 5 self-reported 4-item short forms and the Mechanical Circulatory Support: Measures of Adjustment and Quality of Life (MCS A-QOL) 20-item profile to assess PROs specific to adjustment and health-related quality of life (HRQOL) among patients who undergo left ventricular assist device (LVAD) implantation.

Performance of risk models to predict mortality risk for patients with heart failure: evaluation in an integrated health system.

Background: Referral of patients with heart failure (HF) who are at high mortality risk for specialist evaluation is recommended. Yet, most tools for identifying such patients are difficult to implement in electronic health record (EHR) systems.

Objective: To assess the performance and ease of implementation of Machine learning Assessment of RisK and EaRly mortality in Heart Failure (MARKER-HF), a machine-learning model that uses structured data that is readily available in the EHR, and compare it with two commonly used risk scores: the Seattle Heart Failure Model (SHFM) and Meta-Analysis Global Group in Chronic (MAGGIC) Heart Failure Risk Score.

Cardiac allograft vasculopathy in heart transplant recipients from hepatitis C viremic donors.

Background: Recent studies suggest the transplantation of Hepatitis C (HCV) hearts from viremic donors is associated with comparable 1 year survival to nonviremic donors. Though HCV viremia is a known risk factor for accelerated atherosclerosis, data on cardiac allograft vasculopathy (CAV) outcomes are limited. We compared the incidence of CAV in heart transplant recipients from HCV viremic donors (nucleic acid amplification test positive; NAT+) compared to non-HCV infected donors (NAT-).

Observation of Multi-Phonon Emission in Monolayer WS on Various Substrates.

Transition metal dichalcogenides (TMDs) have unique absorption and emission properties that stem from their large excitonic binding energies, reduced-dielectric screening, and strong spin-orbit coupling. However, the role of substrates, phonons, and material defects in the excitonic scattering processes remains elusive. In tungsten-based TMDs, it is known that the excitons formed from electrons in the lower-energy conduction bands are dark in nature, whereas low-energy emissions in the photoluminescence spectrum have been linked to the brightening of these transitions, either via defect scattering or via phonon scattering with first-order phonon replicas.

Regional Strain of Right Ventricle From Computed Tomography Improves Risk Stratification of Right Ventricle Failure.

Patients who undergo implantation of a left ventricular assist device (LVAD) are at a high risk for right ventricular failure (RVF), presumably due to poor right ventricular (RV) function before surgery. Cine computerized tomography (cineCT) can be used to evaluate RV size, function, and endocardial strain. However, CT-based strain measures in patients undergoing workup for LVAD implantation have not been evaluated.

Fecal metabolite profiling identifies liver transplant recipients at risk for postoperative infection.

Metabolites produced by the intestinal microbiome modulate mucosal immune defenses and optimize epithelial barrier function. Intestinal dysbiosis, including loss of intestinal microbiome diversity and expansion of antibiotic-resistant pathobionts, is accompanied by changes in fecal metabolite concentrations and increased incidence of systemic infection. Laboratory tests that quantify intestinal dysbiosis, however, have yet to be incorporated into clinical practice.