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Hemodynamic Echocardiographic Parameters in the Early Post-Atrial Fibrillation Ablation Period as Predictors of Recurrence. 房颤消融后早期血流动力学超声心动图参数对房颤复发的预测作用。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-21 DOI: 10.1253/circj.CJ-25-0494
Juwon Kim, Kina Jeon, Hee-Jin Kwon, Ju Youn Kim, Jeong Hoon Yang, Seung-Jung Park, Young Keun On, Eun Kyoung Kim, Kyoung-Min Park
{"title":"Hemodynamic Echocardiographic Parameters in the Early Post-Atrial Fibrillation Ablation Period as Predictors of Recurrence.","authors":"Juwon Kim, Kina Jeon, Hee-Jin Kwon, Ju Youn Kim, Jeong Hoon Yang, Seung-Jung Park, Young Keun On, Eun Kyoung Kim, Kyoung-Min Park","doi":"10.1253/circj.CJ-25-0494","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0494","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods and results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145349758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic Value of Non-Sustained Ventricular Tachycardia for Sudden Cardiac Death - Clinical Implications and Outcomes. 非持续性室性心动过速对心源性猝死的预后价值——临床意义和结果。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-18 DOI: 10.1253/circj.CJ-25-0690
Yusuke Kondo, Toshinori Chiba, Yoshio Kobayashi
{"title":"Prognostic Value of Non-Sustained Ventricular Tachycardia for Sudden Cardiac Death - Clinical Implications and Outcomes.","authors":"Yusuke Kondo, Toshinori Chiba, Yoshio Kobayashi","doi":"10.1253/circj.CJ-25-0690","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0690","url":null,"abstract":"","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prediction and Evaluation of Splice-Site Variants With Emerging Therapeutic Possibilities. 预测和评估剪接位点变异与新兴的治疗可能性。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-18 DOI: 10.1253/circj.CJ-25-0816
Kenshi Hayashi
{"title":"Prediction and Evaluation of Splice-Site Variants With Emerging Therapeutic Possibilities.","authors":"Kenshi Hayashi","doi":"10.1253/circj.CJ-25-0816","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0816","url":null,"abstract":"","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic Impact of Mitral Valve Sphericity Index After Mitral Valve Transcatheter Edge-to-Edge Repair in Functional Mitral Regurgitation. 经导管二尖瓣边缘对边缘修复后二尖瓣球形指数对功能性二尖瓣返流预后的影响。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-18 DOI: 10.1253/circj.CJ-25-0457
Takanori Kawamoto, Chihiro Koyanagi, Yuichiro Minami, Yukako Tanaka, Masafumi Yoshikawa, Eiji Shibahashi, Kaoru Haruki, Risako Nakao, Yusuke Inagaki, Hisao Otsuki, Tomohito Kogure, Satoru Domoto, Kyomi Ashihara, Hiroshi Niinami, Junichi Yamaguchi
{"title":"Prognostic Impact of Mitral Valve Sphericity Index After Mitral Valve Transcatheter Edge-to-Edge Repair in Functional Mitral Regurgitation.","authors":"Takanori Kawamoto, Chihiro Koyanagi, Yuichiro Minami, Yukako Tanaka, Masafumi Yoshikawa, Eiji Shibahashi, Kaoru Haruki, Risako Nakao, Yusuke Inagaki, Hisao Otsuki, Tomohito Kogure, Satoru Domoto, Kyomi Ashihara, Hiroshi Niinami, Junichi Yamaguchi","doi":"10.1253/circj.CJ-25-0457","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0457","url":null,"abstract":"<p><strong>Background: </strong>Changes in mitral valve (MV) morphology during MV transcatheter edge-to-edge repair (MV-TEER) are associated with short-term reduction of mitral regurgitation (MR). However, whether these changes are associated with prognosis remains unclear. Using 3-dimensional transesophageal echocardiography, this study evaluated the impact of MV morphological parameters on the mid-term prognosis of patients with functional MR (FMR).</p><p><strong>Methods and results: </strong>We analyzed 99 patients with FMR who were treated with MV-TEER. The primary endpoint was a composite of all-cause mortality and hospitalization due to heart failure. Patients were divided into 2 groups based on the post-procedural sphericity index of the mitral valve (SI-MV), which is the ratio of the vertical to horizontal MV diameter. Using receiver operating characteristic curve (ROC) analysis for the primary endpoint, the SI-MV cut-off value was determined to be 0.86. The incidence of the primary endpoint was significantly (log-rank P=0.013) higher among patients with a post-procedural SI-MV >0.86 (circular MV morphology) than among those with post-procedural SI-MV ≤0.86 (elliptical MV morphology). Post-procedural SI-MV >0.86 was an independent determinant of the primary endpoint in multivariate analysis (hazard ratio 2.35; 95% confidence interval 1.25-4.42; P=0.0077).</p><p><strong>Conclusions: </strong>A larger post-procedural SI-MV is associated with increased mid-term adverse clinical events after MV-TEER in patients with FMR.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of Prognostic Predictors in Heart Failure With Mildly Reduced Ejection Fraction - Could Myocardial Work Serve as a Promising Prognostic Indicator? 心力衰竭伴轻度射血分数降低的预后预测因素探讨——心肌功能作为一个有希望的预后指标吗?
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-18 DOI: 10.1253/circj.CJ-25-0860
Jiro Sakamoto
{"title":"Exploration of Prognostic Predictors in Heart Failure With Mildly Reduced Ejection Fraction - Could Myocardial Work Serve as a Promising Prognostic Indicator?","authors":"Jiro Sakamoto","doi":"10.1253/circj.CJ-25-0860","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0860","url":null,"abstract":"","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction. 与Brugada综合征相关的SCN5A剪接改变变异的特征-剪接错误纠正的见解。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-17 DOI: 10.1253/circj.CJ-25-0447
Hideyuki Jinzai, Koichi Kato, Yuichi Sawayama, Takeru Makiyama, Ryo Kurosawa, Ryotaro Kida, Seiko Ohno, Yoshihisa Nakagawa, Masahiko Ajiro, Masatoshi Hagiwara, Minoru Horie
{"title":"Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.","authors":"Hideyuki Jinzai, Koichi Kato, Yuichi Sawayama, Takeru Makiyama, Ryo Kurosawa, Ryotaro Kida, Seiko Ohno, Yoshihisa Nakagawa, Masahiko Ajiro, Masatoshi Hagiwara, Minoru Horie","doi":"10.1253/circj.CJ-25-0447","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0447","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods and results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145330727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-Term Prognostic Value of Global Myocardial Work in Patients With Heart Failure With Mildly Reduced Ejection Fraction. 心力衰竭伴轻度射血分数降低患者整体心肌功的长期预后价值。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-16 DOI: 10.1253/circj.CJ-25-0571
Yu-Min Lin, Jhih-Yuan Shih, Wei-Chieh Lee, Jheng-Yan Wu, Zhih-Cherng Chen, Wei-Ting Chang
{"title":"Long-Term Prognostic Value of Global Myocardial Work in Patients With Heart Failure With Mildly Reduced Ejection Fraction.","authors":"Yu-Min Lin, Jhih-Yuan Shih, Wei-Chieh Lee, Jheng-Yan Wu, Zhih-Cherng Chen, Wei-Ting Chang","doi":"10.1253/circj.CJ-25-0571","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0571","url":null,"abstract":"<p><strong>Background: </strong>Heart failure with mildly reduced ejection fraction (HFmrEF) is a distinct but relatively understudied phenotype of heart failure. Traditional measures, such as ejection fraction and global longitudinal strain (GLS), have limited prognostic value in HFmrEF, prompting interest in global myocardial work (GMW) as a more comprehensive marker. This study investigated the prognostic utility of GMW in HFmrEF.</p><p><strong>Methods and results: </strong>In this retrospective study, 273 patients with HFmrEF diagnosed between 2014 and 2018 were followed for a median of 31 months. Forty-eight patients experienced hospitalization for heart failure (HHF). The global work index (GWI), GLS, and angiotensin-converting enzyme inhibitor/angiotensin receptor blocker (ACEi/ARB) use were significantly associated with HHF risk. Univariate Cox regression showed that GWI (hazard ratio [HR] 0.998; 95% confidence interval [CI] 0.997-0.999; P=0.003), global constructive work (HR 0.999; 95% CI 0.998-1.000; P=0.010), ACEi/ARB use (HR 0.464; 95% CI 0.239-0.902; P=0.024), and GLS (HR 1.058; 95% CI 1.004-1.116; P=0.035) were significant predictors of HHF. In multivariable analysis, higher GWI was independently associated with a lower risk of HHF (HR 0.997; 95% CI 0.996-0.998; P=0.001). Notably, GWI ≥850 mmHg% was associated with a significantly lower HHF risk (HR 0.075; 95% CI 0.0288-0.196; P=0.001).</p><p><strong>Conclusions: </strong>GWI is an independent prognostic marker for HHF in HFmrEF, offering incremental value beyond conventional echocardiographic parameters. However, validation in prospective and multicenter studies is warranted.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inherited Heart Disease - Cardiologists Should Draw Patients' Family Trees. 遗传性心脏病——心脏病专家应该绘制病人的家谱。
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-12 DOI: 10.1253/circj.CJ-25-0792
Minoru Horie, Shushi Nishiwaki, Takanori Aizawa
{"title":"Inherited Heart Disease - Cardiologists Should Draw Patients' Family Trees.","authors":"Minoru Horie, Shushi Nishiwaki, Takanori Aizawa","doi":"10.1253/circj.CJ-25-0792","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0792","url":null,"abstract":"","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145287673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-Term Exposure to Outdoor Air Pollutant Mixture and Cardiovascular Health Assessed by the American Heart Association's Life's Essential 8 Metric in Korean Adults. 韩国成年人长期暴露于室外空气污染物混合物与心血管健康美国心脏协会生命基本8指标评估
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-07 DOI: 10.1253/circj.CJ-25-0559
Seong-Uk Baek, Jin-Ha Yoon
{"title":"Long-Term Exposure to Outdoor Air Pollutant Mixture and Cardiovascular Health Assessed by the American Heart Association's Life's Essential 8 Metric in Korean Adults.","authors":"Seong-Uk Baek, Jin-Ha Yoon","doi":"10.1253/circj.CJ-25-0559","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0559","url":null,"abstract":"<p><strong>Background: </strong>Outdoor air pollutants are known to have adverse health impacts, but knowledge of the relationship between exposure to air pollutant mixtures and cardiovascular health (CVH) remains limited.</p><p><strong>Methods and results: </strong>We examined the association of air pollutant mixtures with CVH using the American Heart Association's Life's Essential 8 (LE8), which is based on 4 health behaviors and 4 biometric health factors. Data from a nationally representative sample of 27,763 adults were analyzed. One-year moving average concentrations of PM<sub>10</sub>, PM<sub>2.5</sub>, SO<sub>2</sub>, NO<sub>2</sub>, CO, and O<sub>3</sub>were estimated through air pollution modeling. CVH was evaluated using LE8 scores (range 0-100), with higher scores indicating superior CVH. The association of a 1-quantile increment in air pollutant mixture with the expected change in LE8 score was evaluated using Quantile g-computation. The mean LE8 score in study participants was 63.7. In the adjusted model, a 1-quantile increment in air pollutant mixture was linked to a 1.67-point (95% confidence interval -2.18, -1.16) decrease in LE8 score. CO, O<sub>3</sub>, PM<sub>2.5</sub>, and NO<sub>2</sub>accounted for 43.7%, 28.7%, 23.9%, and 3.7%, respectively, of the inverse association of the air pollutant mixture with the overall LE8 score.</p><p><strong>Conclusions: </strong>Our study revealed that long-term exposure to outdoor air pollutants is associated with poor CVH, suggesting the need for supporting policy interventions to reduce air pollutant levels and mitigate their health impacts.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy. SCN5A中新的功能丧失变异Cys1384Phe与Brugada综合征、病态窦性综合征和扩张性心肌病的重叠表型相关
IF 3.7 3区 医学
Circulation Journal Pub Date : 2025-10-03 DOI: 10.1253/circj.CJ-25-0283
Kohei Yamauchi, Koichi Kato, Seiko Ohno, Masayuki Nakada, Soichiro Yamashita, Hiroshi Morita, Mitsuru Takami, Koji Fukuzawa, Kohei Ishibashi, Kengo Kusano, Takeshi Aiba
{"title":"Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.","authors":"Kohei Yamauchi, Koichi Kato, Seiko Ohno, Masayuki Nakada, Soichiro Yamashita, Hiroshi Morita, Mitsuru Takami, Koji Fukuzawa, Kohei Ishibashi, Kengo Kusano, Takeshi Aiba","doi":"10.1253/circj.CJ-25-0283","DOIUrl":"https://doi.org/10.1253/circj.CJ-25-0283","url":null,"abstract":"<p><strong>Background: </strong>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).</p><p><strong>Methods and results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50691,"journal":{"name":"Circulation Journal","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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