Danon Disease Presenting with Slowly Progressive Cardiomyopathy and Harboring a Novel Missense Variant in the Lysosome-associated Membrane Protein Type 2 (LAMP-2) gene: A Case Report.

Danon disease (DD) is a rare lysosomal storage disorder resulting from pathogenic variants of the lysosome-associated membrane protein type 2 (LAMP-2) gene. The disease is characterized by severe cardiomyopathy, which rapidly progresses to end-stage heart failure. This case, with DD caused by a missense variant, exhibited slow progressive cardiomyopathy and survived for an extended period despite being a male.

The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants.

Genetic testing for inherited arrhythmias and discriminating pathogenic or benign variants from variants of unknown significance (VUS) is essential for gene-based medicine. KCNQ1 is a causative gene of type 1 long QT syndrome (LQTS), and approximately 30% of the variants found in type 1 LQTS are classified as VUS. We studied the role of zebrafish cardiac arrhythmia model in determining the clinical significance of KCNQ1 variants.

Characterization of baseline clinical factors associated with incident worsening kidney function in patients with non-valvular atrial fibrillation: the Hokuriku-Plus AF Registry.

Evidence suggests that atrial fibrillation (AF) could increase the risk of worsening kidney function (WKF) which is linked to an increased risk of stroke, bleeding, and death in AF patients. However, limited data exist regarding the factors that could lead to WKF in these patients. Therefore, we sought to identify the potential factors associated with the development of WKF in patients with non-valvular AF (NVAF).

A case of torsades de pointes due to takotsubo cardiomyopathy after common atrial flutter ablation.

Takotsubo cardiomyopathy (TCM) is a transient acute cardiac disorder often associated with QT prolongation, but this rarely leads to torsades de pointes (TdP). Additionally, it is a rare complication of catheter ablation. Here we report a case of TCM that developed after catheter ablation for common atrial flutter, which led to TdP.

Coronary intervention for severe stenosis in the ostial right coronary artery with cardiac angiosarcoma: a case report.

Background: Although rare, angiosarcoma is the most common type of cardiac primary malignancy. This disease can cause life-threatening complications and the prognosis remains poor. There is no standard approach to care, and clinical judgement is exercised on a case-by-case basis.

Effect on Plasma Protein S Activity in Patients Receiving the Factor Xa Inhibitors.

Aims: Measurement of protein S (PS) activity in patients taking direct oral anticoagulants (DOACs) using reagents based on a clotting assay results in falsely high PS activity, thus masking inherited PS deficiency, which is most frequently seen in the Japanese population. In this study, we investigated the effect of factor Xa (FXa) inhibitors on PS activity using the reagent on the basis of the chromogenic assay, which was recently developed in Japan.

Methods: The study enrolled 152 patients (82 males and 70 females; the average age: 68.

Transient swallowing-induced atrial tachycardia in a patient with genotyped hypertrophic cardiomyopathy.

Most cases of swallowing-induced atrial tachycardia require radiofrequency catheter ablation for a permanent cure; however, the arrhythmia subsided after temporary prescription of verapamil in a patient with genotyped hypertrophic cardiomyopathy.

A case of pulmonary arterial hypertension with chronic hepatitis that resulted in hepatosplenomegaly after administration of prostaglandin I2.

The prognosis of pulmonary arterial hypertension (PAH) has significantly improved over the past two decades due to advances in medications, including pulmonary vasodilators. However, the side effects of these drugs remain problematic in some patients. A 51-year-old woman with chronic hepatitis C was diagnosed with PAH 7 years before presenting to our hospital.

Renal iodine-metaiodobenzylguanidine scintigraphy relates to muscle sympathetic nervous activity in heart failure with reduced ejection fraction.

Background: Renal denervation is effective for modulating augmented sympathetic nerve activity (SNA) in heart failure with reduced ejection fraction (HFrEF). We have demonstrated that renal iodine-metaiodobenzylguanidine (I-MIBG) scintigraphy is associated with muscle sympathetic nerve activity (MSNA) in patients with hypertension. However, it is unclear whether renal I-MIBG scintigraphy is useful for assessment of SNA in HFrEF.

Takotsubo cardiomyopathy complicated by cardiac tamponade due to non-hemorrhagic pericardial effusion: a case report.

Background: Cardiac tamponade is a rare but serious complication of Takotsubo cardiomyopathy (TC). Two cases of cardiac tamponade subsequent to TC have been reported. The pericardial effusion in these cases was hemorrhagic and caused by ventricular rupture.

Optimization of the hot balloon ablation strategy using real-time pulmonary vein potential monitoring.

Introduction: Optimal radiofrequency-generated thermal energy applications have not been established for hot balloon ablation (HBA) systems. We investigated the feasibility of real-time monitoring of pulmonary vein (PV) potentials and optimal time-to-isolation (TTI)-guided application strategies in HBAs.

Methods And Results: Real-time monitoring of PV potentials was performed using a four-electrode unidirectional catheter in 34 consecutive patients.

Quick sepsis-related organ failure assessment score as a possible predictor for in-hospital adverse events in infective endocarditis.

Aim: Infective endocarditis (IE) can be life-threatening because of various associated adverse events. The quick Sepsis-related Organ Failure Assessment (qSOFA) score is a straightforward useful method for predicting in-hospital mortality in patients with suspected infections. However, few data exist regarding the clinical impact of the qSOFA score on predicting adverse events in IE during hospitalization.

Coronary sinus catheter placement via left cubital vein for phrenic nerve stimulation during pulmonary vein isolation.

Phrenic nerve (PN) stimulation is essential for the elimination of PN palsy during balloon-based pulmonary vein isolation (PVI). Although ultrasound-guided vascular access is safe, insertion of a PN stimulation catheter via central venous access carries a potential risk of the development of mechanical complications. We evaluated the safety of a left cubital vein approach for positioning a 20-electrode atrial cardioversion (BeeAT) catheter in the coronary sinus (CS), and the feasibility of right PN pacing from the superior vena cava (SVC) using proximal electrodes of the BeeAT catheter.

Cost-effectiveness for prevention of thromboembolism by anticoagulants in non-valvular atrial fibrillation: additional analysis from the Hokuriku-Plus AF Registry.

Although benefits of direct oral anticoagulants (DOAC) for treatment of non-valvular atrial fibrillation (AF) were well demonstrated, few data exist regarding cost-effectiveness between DOAC and warfarin uses in real-world clinical practice. Therefore, we estimated total cost of treatment for AF by authorized cardiologists in Japan. We studied consecutive 617 anticoagulated non-valvular AF patients (418 men, mean age 68.

Effect of hypertrophic cardiomyopathy on the prediction of thromboembolism in patients with nonvalvular atrial fibrillation.

Background: Anticoagulation is recommended for hypertrophic cardiomyopathy (HCM) with nonvalvular atrial fibrillation (NVAF) according to European and American guidelines. However, it is unclear whether HCM is a risk factor for thromboembolism in NVAF in Japan, and the management for NVAF with HCM is not established.

Objective: We studied the impact of concomitant HCM on predicting thromboembolism in NVAF.

Endogenous muscle atrophy F-box is involved in the development of cardiac rupture after myocardial infarction.

Muscle atrophy F-box (MAFbx/atrogin-1), an E3 ubiquitin ligase, is a crucial mediator of skeletal muscle atrophy and cardiac hypertrophy in response to pressure overload and exercise. The role of MAFbx in the regulation of cardiac remodeling after myocardial infarction (MI) remains unclear. Permanent coronary ligation of the left coronary artery was performed on MAFbx knockout (KO) and wild-type (WT) mice and MAFbx expression in the WT mice was shown to be significantly increased in the left ventricles after MI.

Significant Association Between Coronary Artery Low-Attenuation Plaque Volume and Apnea-Hypopnea Index, But Not Muscle Sympathetic Nerve Activity, in Patients With Obstructive Sleep Apnea Syndrome.

Background: Obstructive sleep apnea syndrome (OSAS) is associated with augmented sympathetic nerve activity and cardiovascular diseases. However, the interaction between coronary artery plaque characteristics and sympathetic nerve activity remains unclear. The purpose of this study was to clarify the relationships between coronary artery plaque characteristics, sleep parameters and single- and multi-unit muscle sympathetic nerve activity (MSNA) in OSAS patients.

Optimal lesion size index to prevent conduction gap during pulmonary vein isolation.

Introduction: A novel real-time lesion size index (LSI) that incorporates contact force (CF), time, and power has been developed for safe and effective catheter ablation. The optimal LSI was evaluated to eliminate gap formation during pulmonary vein isolation (PVI).

Methods And Results: Consecutive patients were enrolled, who underwent their first PVI using a fiber-optic CF-sensing catheter for atrial fibrillation between December 2016 and October 2017.

Differential effects of lipophilic and hydrophilic statins on muscle sympathetic nerve activity in heart failure with preserved left ventricular ejection fraction.

Augmented sympathetic nerve activity is associated with heart failure with preserved left ventricular ejection fraction (HFpEF). Lipophilic statins reduce sympathetic nerve activity in patients with heart failure with reduced left ventricular ejection fraction. However, little is known about whether all types of statins, regardless of solubility, reduce sympathetic nerve activity in HFpEF.