Circulation Journal最新文献

The World Health Organization recognizes digital health as a key driver for sustainable health systems. Digital health is broad concept that refers to the use of digital technologies to improve health and healthcare. Mobile health is part of digital health and refers to the use of mobile devices such as smartphones, tablets, and wearable gadgets to deliver health-related services. By proactively utilizing personal health records from mHealth, in conjunction with electronic health records, advanced medical practices can be achieved. This integration facilitates app-based patient education and encouragement, lifestyle modification, and efficient sharing of medical information between hospitals. Beyond emergency care, information sharing enables patients to visit multiple healthcare facilities without redundant tests or unnecessary referrals, reducing the burden on both patients and healthcare providers.

Background: Patients with bradyarrhythmia requiring pacemaker implantation often report disrupted sleep, which could be related to bradyarrhythmia, apprehension of having heart disease and undiagnosed sleep disorders, resulting in impaired quality of life (QOL). We aimed to assess the prevalence of poor subjective sleep quality in patients with bradyarrhythmia requiring pacemaker implantation and its effect on sleep quality.

Methods and results: Patients undergoing permanent pacemaker implantation for bradyarrhythmia were evaluated for subjective sleep quality and health-related QOL using the Pittsburgh Sleep Quality Index (PSQI) and Short Form-8 (SF-8) before and after pacemaker implantation. Poor subjective sleep quality was defined as PSQI score ≥6. Of 89 enrolled patients, 54 (60.7%) reported poor subjective sleep quality. A greater PSQI score indicative of poor sleep quality was likely to be observed in patients who had greater left ventricular ejection fraction and were treated with calcium-channel blockers, as well as in patients with more frequent sleep disturbance-related complaints/symptoms. After pacemaker implantation, the PSQI score improved significantly (from a median score of 6.0 to 5.0; P=0.015) proportional to an improvement in the mental component summary score.

Conclusions: Poor subjective sleep quality is common among patients with bradyarrhythmia, contributing to impaired QOL. Pacemaker implantation may have a favorable effect on subjective sleep quality, and QOL for such patients.

Background: Loss-of-function SCN5A variants are primarily associated with Brugada syndrome (BrS), but can also present with overlapping phenotypes. We investigated Cys1384Phe of SCN5A, a novel missense variant associated with BrS, sick sinus syndrome (SSS), and dilated cardiomyopathy (DCM).

Methods and results: This study included a large 4-generation Japanese family consisting of 15 individuals (1 proband and 14 family members). Among them, the proband, a cousin, a second cousin and the second cousin's father were diagnosed with BrS. Two of these 4 BrS patients experienced VF events, while the other 2 remained asymptomatic. Another cousin was diagnosed with DCM, and 3 additional family members exhibited complete right bundle branch block and/or SSS. Comprehensive genetic analysis using a target panel sequencing identified a novel missense variant, Cys1384Phe in SCN5A, in the proband and affected family members; however, the phenotypes were different. Whole-cell patch-clamp experiments using HEK293 cells transfected wild-type or Cys1384Phe plasmid demonstrated a complete loss-of-function in the sodium current of the Cys1384Phe cells. Furthermore, the heterozygous expression of Cys1384Phe and wild-type (WT) channels showed a significant reduction of peak sodium current compared with the WT, suggesting a dominant-negative suppression, but no trafficking defect was observed.

Conclusions: The novel Cys1384Phe variant in SCN5A is a complete loss-of-function mutation with dominant-negative suppression, and associated with overlapping phenotypes of BrS, SSS, and DCM.

Background: Brugada syndrome (BrS) is an arrhythmic disease associated with SCN5A loss-of-function variants. We identified a novel single nucleotide substitution, SCN5A c.1338G>A, in the last codon of exon10 in a patient with drug-induced BrS. The aim of this study was to investigate the impact of this splice-altering variant and examine whether antisense oligonucleotides (ASOs) could correct the splice alteration.

Methods and results: Genomic DNA was extracted from the patient's blood lymphocytes. Coding exons of inherited arrhythmia genes were screened and SCN5A c.1338G>A was identified. SpliceAI predicted its prominent potential to alter splicing among 168 single nucleotide variants in the SCN5A region including 10 variants with allele frequency (AF) <0.01, and the usage of a cryptic splice donor site 4 bp downstream from the authentic splice donor site. Minigene splicing reporter assays were performed using HEK-293 cells and induced pluripotent stem cells-cardiomyocytes, and successfully demonstrated a dominant selection of the predicted splice site. Three different ASOs were tested in the same platform. Although the ASOs reduced the production of splice error products, they did not succeed in increasing authentically spliced products.

Conclusions: We confirmed a splice site alteration by SCN5A c.1338G>A and propose extended use of SpliceAI for screening a target genomic region. The attempts to correct mis-splicing near the canonical splice site were not entirely successful, so further development of technology is awaited.

Background: Atrial fibrillation (AF) recurrence after ablation requires predictors for better management. This study evaluated early post-ablation changes in echocardiographic parameters, clarifying the relative importance of left ventricle (LV) diastolic function and left atrium (LA) strain for recurrence prediction.

Methods and results: The study prospectively enrolled 165 consecutive patients undergoing de novo AF ablation between 2019 and 2021. Echocardiography was performed before and 3 months after ablation. Three months after ablation, LA volume and LA strain (reservoir and contraction phases) decreased significantly and the LV ejection fraction improved. Extrapulmonary vein LA ablation was associated with significantly lower LA strain at 3 months. Over a median follow-up of 359 days, atrial tachyarrhythmia recurred in 45 (27.3%) patients. Three months after ablation, there was no significant difference in LA strain between groups with and without recurrence, but mitral E/e' and right ventricular systolic pressure (RVSP) were significantly higher in the group with recurrence (mitral E/e' 7.4±2.2 vs. 10.4±4.1; RVSP 23.1±3.5 vs. 28.4±4.8 mmHg; P<0.001 for both). Multivariable analysis identified E/e' and RVSP at 3 months as independent predictors of recurrence (hazard ratios 1.246 and 1.111, respectively), but not LA strain.

Conclusions: Following AF ablation, hemodynamic factors appear to be more significant predictors of recurrence than LA strain. Assessment of LV diastolic function during the early post-ablation period may help identify patients at high risk of recurrence.

Background: Cardiac sarcoidosis (CS) is a rare, potentially life-threatening condition associated with ventricular tachycardia (VT). Outcomes of catheter ablation for VT in patients with histologically diagnosed sarcoidosis and those with suspected or clinically diagnosed sarcoidosis have not been well studied. This study addressed this knowledge gap.

Methods and results: We conducted an observational retrospective chart review of patients with CS who underwent VT ablation between 2007 and 2024 at Mayo Clinic Hospital. The cohort was divided into 2 groups: those with histologically diagnosed sarcoidosis and those with clinical or suspected sarcoidosis diagnosed according to Japanese Circulation Society 2016 guidelines. The primary endpoints were VT recurrence, cardiovascular mortality, and heart transplantation. Eighty-eight patients were included in the study: 33 with histologically confirmed CS and 55 with clinical/suspected CS. Systemic sarcoidosis was more common in the group with histologically confirmed CS, whereas mid-myocardial non-ischemic late gadolinium enhancement was more prevalent in the group with clinical/suspected CS. The 1-year composite event-free survival rate was 56.1%. In multivariate analysis, systemic sarcoidosis was independently associated with lower event-free survival rates.

Conclusions: Patients with histologically confirmed CS had worse VT ablation outcomes than those with clinical/suspected CS. This difference may be driven by a higher prevalence of systemic sarcoidosis in the former group. These findings highlight the need for a comprehensive management approach in both groups.