{"title":"Systematic analysis of SCN5A variants associated with inherited cardiac diseases","authors":"Alexis Hermida MD , Guillaume Jedraszak MD , Flavie Ader PharmD, PhD , Isabelle Denjoy MD , Véronique Fressart MD, PhD , Phillipe Maury MD, PhD , Christophe Beyls MD , Adrien Bloch MD , Gaël Clerici MD , Elise Daire MD , Pascal Defaye MD, PhD , Delphine Dupin-Deguine MD , Loic Garçon MD, PhD , Didier Klug MD, PhD , Emmanuelle Ginglinger MD , Jean-Sylvain Hermida MD , Laurence Jesel MD, PhD , Diala Khraiche MD , Maciej Kubala MD, PhD , Jérôme Lacotte MD, MD , Estelle Gandjbakhch MD, PhD","doi":"10.1016/j.hrthm.2024.08.018","DOIUrl":"10.1016/j.hrthm.2024.08.018","url":null,"abstract":"<div><h3>Background</h3><div><em>SCN5A</em> variants are associated with a spectrum of cardiac electrical disorders with clear phenotypes. However, they may also be associated with complex phenotypic traits like overlap syndromes or pleiotropy, which have not been systematically described. In addition, the involvement of <em>SCN5A</em> in dilated cardiomyopathies (DCMs) remains controversial.</div></div><div><h3>Objective</h3><div>We aimed to evaluate the different phenotypes associated with pathogenic (P)/likely pathogenic (LP) <em>SCN5A</em> variants and to determine the prevalence of pleiotropy in a large multicentric cohort of P/LP <em>SCN5A</em> variant carriers.</div></div><div><h3>Methods</h3><div>The DNA of 13,510 consecutive probands (9960 with cardiomyopathies) was sequenced with a custom panel of genes. Individuals carrying a heterozygous single P/LP <em>SCN5A</em> variant were selected and phenotyped.</div></div><div><h3>Results</h3><div>The study included 170 P/LP variants found in 495 patients. Of them, 119 (70%) were exclusively associated with a single well-established phenotype: 91 with Brugada syndrome, 15 with type 3 long QT syndrome, 6 with progressive cardiac conduction disease, 4 with multifocal ectopic Purkinje-related premature contractions, and 3 with sick sinus syndrome. Thirty-two variants (19%) were associated with overlap syndromes or pleiotropy. The 19 remaining variants (11%) were associated with atypical or unclear phenotypes. Of those, 8 were carried by 8 patients presenting with DCM with a debatable causative genotype/phenotype link.</div></div><div><h3>Conclusion</h3><div>Most P/LP <em>SCN5A</em> variants were found in patients with primary electrical disorders, mainly Brugada syndrome. Nearly 20% were associated with overlap syndromes or pleiotropy, underscoring the need for comprehensive phenotypic evaluation. The concept of <em>SCN5A</em> variants causing DCM is extremely rare (8/9960) if not questionable.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 844-851"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.08.027
Frans Serpa MD , André Rivera MS , Julia M. Fernandes MS , Marcelo Antonio Pinheiro Braga MS , Beatriz Araújo MS , Iuri Ferreira Felix MD , Enrico Giuseppe Ferro MD , Peter J. Zimetbaum MD , Andre d’Avila MD, PhD , Daniel B. Kramer MD, MPH
{"title":"Intracardiac vs transesophageal echocardiography for left atrial appendage occlusion: An updated systematic review and meta-analysis","authors":"Frans Serpa MD , André Rivera MS , Julia M. Fernandes MS , Marcelo Antonio Pinheiro Braga MS , Beatriz Araújo MS , Iuri Ferreira Felix MD , Enrico Giuseppe Ferro MD , Peter J. Zimetbaum MD , Andre d’Avila MD, PhD , Daniel B. Kramer MD, MPH","doi":"10.1016/j.hrthm.2024.08.027","DOIUrl":"10.1016/j.hrthm.2024.08.027","url":null,"abstract":"<div><h3>Background</h3><div>Multiple studies continue to evaluate the use of intracardiac echocardiography (ICE) and transesophageal echocardiography (TEE) for guiding left atrial appendage occlusion (LAAO).</div></div><div><h3>Objective</h3><div>The purpose of this study was to conduct an updated meta-analysis comparing the effectiveness and safety outcomes of both imaging modalities.</div></div><div><h3>Methods</h3><div>PubMed, Cochrane, and Embase were searched for studies comparing ICE vs TEE to guide LAAO. Odds ratios (ORs) with 95% confidence intervals (CIs) were pooled using a random-effects model. The primary effectiveness endpoint was procedural success. The primary safety endpoint included the overall complications rate. Additional safety outcomes were assessed as secondary endpoints. Subgroup analysis of primary endpoints was conducted according to device type (Amulet, LAmbre, Watchman, Watchman FLX) and study region (American, Asia, Europe). R Version 4.3.1 was used for all statistical analyses.</div></div><div><h3>Results</h3><div>Our meta-analysis included 19 observational studies encompassing 42,474 patients, of whom 4415 (10.4%) underwent ICE-guided LAAO. Compared with TEE, ICE was associated with a marginally higher procedural success (OR 1.33; 95% CI 1.01–1.76; <em>P</em> = .04; I<sup>2</sup> = 0%). There was no significant difference in the overall complications rate (OR 1.02; 95% CI 0.77–1.36; <em>P</em> = .89; I<sup>2</sup> = 5%). However, ICE showed higher rates of pericardial effusion (OR 2.11; 95% CI 1.47–3.03; <em>P</em> <.001; I<sup>2</sup> = 0%) and residual iatrogenic atrial septal defect (iASD) (OR 1.52; 95% CI 1.15–2.03; <em>P</em> <.004; I<sup>2</sup> = 0%). Subgroup analysis revealed variations in procedural success within the ICE group across study regions (<em>P</em> = .02).</div></div><div><h3>Conclusion</h3><div>In this updated meta-analysis, the increasing adoption of ICE-guided LAAO demonstrated higher procedural success rates compared to TEE, although with limited statistical significance. Overall complication rates were similar; however, ICE showed higher rates of pericardial effusion and residual iASD.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 786-795"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.09.001
Chadi Tabaja MD , Nolan Hight CNP, CCDS , Arwa Younis MD, Shada Jadam MD, Joe Demian MD, Ayman Hussein MD, Jakub Sroubek MD, PhD, Walid Saliba MD, Mohamed Kanj MD, Mandeep Bhargava MD, Bryan Baranowski MD, Thomas Callahan MD, Mina Chung MD, Thomas Dresing MD, Justin Lee MD, Koji Higuchi MD, Ioan Liuba MD, David Martin MD, Shady Nakhla MD, John Rickard MD, Pasquale Santangeli MD, PhD
{"title":"Vascular access complications after catheter ablation of ventricular arrhythmias: Impact of vascular closure devices","authors":"Chadi Tabaja MD , Nolan Hight CNP, CCDS , Arwa Younis MD, Shada Jadam MD, Joe Demian MD, Ayman Hussein MD, Jakub Sroubek MD, PhD, Walid Saliba MD, Mohamed Kanj MD, Mandeep Bhargava MD, Bryan Baranowski MD, Thomas Callahan MD, Mina Chung MD, Thomas Dresing MD, Justin Lee MD, Koji Higuchi MD, Ioan Liuba MD, David Martin MD, Shady Nakhla MD, John Rickard MD, Pasquale Santangeli MD, PhD","doi":"10.1016/j.hrthm.2024.09.001","DOIUrl":"10.1016/j.hrthm.2024.09.001","url":null,"abstract":"<div><h3>Background</h3><div>Vascular access site complications are the most frequent complications of percutaneous catheter ablation (CA) of ventricular arrhythmias (VAs). Whether arterial/venous vascular closure devices (VCDs) prevent vascular complications is unknown.</div></div><div><h3>Objective</h3><div>We investigated the benefit of VCDs in patients undergoing CA of VAs.</div></div><div><h3>Methods</h3><div>Consecutive CA of VAs were included (2018–2022). Vascular accesses were obtained with ultrasound guidance. At the discretion of the operator, arterial and/or venous VCDs were used. Cases were divided into 3 groups: no use of VCDs for any arterial/venous accesses (manual compression [MC]), use of VCDs for some but not all accesses (Partial-VCDs), and use of VCDs for all accesses (Complete-VCDs). Vascular complications were classified as minor if they did not require intervention or major if they required intervention.</div></div><div><h3>Results</h3><div>A total of 1016 procedures were performed in 872 patients (mean age 62 ± 13 years; mean body mass index 30 ± 6 kg/m<sup>2</sup>; 27% female) during the study period. Femoral arterial access was obtained in 887 procedures (875 single access: 7.4 ± 1.5 F size; 12 two accesses: 7.3 ± 3 and 6.9 ± 1.8 F). Femoral venous access was obtained in 1014 procedures (unilateral in 17%; bilateral in 83%; mean number of access sites per patient 2.6 ± 0.7; mean size 8.4 ± 1.3 F). Hemostasis was achieved with MC in 192 procedures (19%), with Partial-VCD in 275 (27%), and with Complete-VCD in 549 (54%). A vascular complication occurred in 52 procedures (5.1%), including a minor hematoma in 3.9% and/or a major complication in 1.7%. The rate of vascular complications was 6.8% (5.2% minor and 1.6% major) in the MC group, 7.6% (5.1% minor and 3.3% major) in the Partial-VCD group, and 3.3% (2.9% minor and 0.9% major) in the Complete-VCD group (<em>P</em> = .014 for comparison). In multivariable analysis, Complete-VCD remained independently associated with a lower risk of vascular complications (odds ratio 0.69; 95% confidence interval 0.48–0.96; <em>P</em> = .036).</div></div><div><h3>Conclusion</h3><div>In patients undergoing CA of VAs, Complete-VCD is associated with lower rates of vascular-related complications compared with MC or Partial-VCD.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 685-692"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.09.009
Willeke van der Stuijt MD, PhD , Jeffrey L. Williams MD , Amy J. Brisben PhD , Al Koshiol BS , Nathan Carter MS , Mark S. Link MD , Samir F. Saba MD
{"title":"Battery longevity and its predictors in subcutaneous implantable cardioverter-defibrillators (S-ICDs): A mathematical analysis derived from a large dataset","authors":"Willeke van der Stuijt MD, PhD , Jeffrey L. Williams MD , Amy J. Brisben PhD , Al Koshiol BS , Nathan Carter MS , Mark S. Link MD , Samir F. Saba MD","doi":"10.1016/j.hrthm.2024.09.009","DOIUrl":"10.1016/j.hrthm.2024.09.009","url":null,"abstract":"","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 868-870"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142284469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.10.074
Aseel Houmsse MS , Nipun Malhotra MSc , Sakima A. Smith MD , Mona El Refaey PhD
{"title":"Atrial fibrillation in Black American patients: A review of genetics, risk factors, and outcomes","authors":"Aseel Houmsse MS , Nipun Malhotra MSc , Sakima A. Smith MD , Mona El Refaey PhD","doi":"10.1016/j.hrthm.2024.10.074","DOIUrl":"10.1016/j.hrthm.2024.10.074","url":null,"abstract":"<div><div>Atrial fibrillation (AF), the most common arrhythmia in the United States, affects 6 million Americans, with numbers projected to increase to 12 million by 2030. A racial paradox difference in the incidence and prevalence of AF exists between Black and White Americans. Black Americans are less prone than White Americans to development of AF, but they display a higher burden of modifiable risk factors for cardiovascular disease and higher rates of ischemic stroke. Data pertaining to the American Heart Association Life’s Simple 7 (LS7) health metrics show that Black Americans have suboptimal LS7 scores compared with White Americans on average despite lower genetic predisposition to AF. This trend suggests the impact of cardiovascular health on the development and progression of AF. Social, genetic, and lifestyle risk factors have been shown to play a role in the racial paradox and AF outcomes in Black Americans. This review summarizes factors contributing to the racial paradox and discusses suggestions for improved health outcomes in Black Americans with AF.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 617-626"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.07.123
Arash Aryana MD, PhD, FHRS , Sudarone Thihalolipavan MD , Mark E. Willcox MD , Somya Swarup BS , Jason Zagrodzky MD, FHRS , H. James Wang MD, FHRS , Florentino A. Lupercio MD, FHRS , David N. Kenigsberg MD, FHRS , Sophia Kenigsberg , Rhea A. Mahapatra , Padraig Gearoid O’Neill MD, FHRS , Steven J. Compton MD, FHRS , Andrea Natale MD, FHRS , Kenneth A. Ellenbogen MD, FHRS , Vijendra Swarup MD, FHRS
{"title":"Safety and feasibility of cardiac electrophysiology procedures in ambulatory surgery centers","authors":"Arash Aryana MD, PhD, FHRS , Sudarone Thihalolipavan MD , Mark E. Willcox MD , Somya Swarup BS , Jason Zagrodzky MD, FHRS , H. James Wang MD, FHRS , Florentino A. Lupercio MD, FHRS , David N. Kenigsberg MD, FHRS , Sophia Kenigsberg , Rhea A. Mahapatra , Padraig Gearoid O’Neill MD, FHRS , Steven J. Compton MD, FHRS , Andrea Natale MD, FHRS , Kenneth A. Ellenbogen MD, FHRS , Vijendra Swarup MD, FHRS","doi":"10.1016/j.hrthm.2024.07.123","DOIUrl":"10.1016/j.hrthm.2024.07.123","url":null,"abstract":"<div><h3>Background</h3><div>Despite their improved safety, by and large, cardiac electrophysiology procedures including catheter ablation (CA), are presently performed in hospital outpatient departments.</div></div><div><h3>Objective</h3><div>This large multicenter study investigated the safety and outcomes associated with various cardiac electrophysiology procedures performed at 6 ambulatory surgery centers (ASCs), primarily during the coronavirus disease 2019 pandemic under the Center for Medicare and Medicaid Services Hospitals Without Walls program.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed the outcomes from consecutive electrophysiology procedures performed in ASCs with same-day discharge, including transesophageal echocardiography, cardioversion, cardiac implantable electronic device (CIED) implantation, electrophysiology studies, and CA for atrial fibrillation (AF), atrial flutter (AFL)/supraventricular tachycardia, ventricular premature complexes (VPCs), and atrioventricular node.</div></div><div><h3>Results</h3><div>Altogether, 4037 procedures were performed, including 779 transesophageal echocardiography/cardioversion procedures (19.3%), 1453 CIED implantation procedures (36.0%), 26 electrophysiology studies (0.6%), and 1779 CA procedures (44.1%) for AF (75.4%), AFL/supraventricular tachycardia (18.8%), VPC (4.7%), and atrioventricular node (1.1%). Overall, 80.2% of CA procedures were for left-sided atrial arrhythmias (AF/atypical AFL) requiring transseptal catheterization. Left-sided VPC ablation procedures (42.2%) were performed using a transseptal/retrograde approach. Adverse event rates were low, but comparable between CIED implantation and CA (0.76% vs 0.73%; <em>P</em> = .93), as were the incidences of urgent/unplanned postprocedure hospitalization (0.48% vs 0.45%; <em>P</em> = .89), respectively. Moreover, the adverse event rates in ASCs vs hospital outpatient departments did not differ for CIED (0.76% vs 0.65%; <em>P</em> = .71) or CA (0.73% vs 0.80%; <em>P</em> = .79).</div></div><div><h3>Conclusion</h3><div>The results from this large multicenter study suggest that ASCs represent a safe and effective setting to perform a variety of cardiac electrophysiology procedures including CA. These findings bear important implications for healthcare delivery and policy.</div></div>","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 717-724"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141901466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.11.009
Pasquale Santangeli MD, PhD , Francis E. Marchlinski MD, FHRS
{"title":"What stands in the way becomes the way: Catheter ablation of VT in severe heart failure","authors":"Pasquale Santangeli MD, PhD , Francis E. Marchlinski MD, FHRS","doi":"10.1016/j.hrthm.2024.11.009","DOIUrl":"10.1016/j.hrthm.2024.11.009","url":null,"abstract":"","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 710-711"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.07.114
Andrew S. Tseng MD, MPH , John R. Giudicessi MD, PhD , Michael J. Ackerman MD, PhD
{"title":"Allergy therapy for patients with a cardiac channelopathy: Do not withhold lifesaving treatments","authors":"Andrew S. Tseng MD, MPH , John R. Giudicessi MD, PhD , Michael J. Ackerman MD, PhD","doi":"10.1016/j.hrthm.2024.07.114","DOIUrl":"10.1016/j.hrthm.2024.07.114","url":null,"abstract":"","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 852-853"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heart rhythmPub Date : 2025-03-01DOI: 10.1016/j.hrthm.2024.07.112
Freddy Del-Carpio Munoz MD, MSc, FHRS , Siva Mulpuru MD, MPH, FHRS , Erin Luethe , Caitlin Carpenter , Charles Cagin MD , Kyle Liu , Jingjing Chen MD , Yong-Mei Cha MD, FHRS , Paul Friedman MD, FHRS , Xiaoke Liu MD, PhD
{"title":"Impact of left bundle branch area pacing as the primary cardiac resynchronization strategy vs biventricular pacing on resource utilization and clinical outcomes in a community hospital","authors":"Freddy Del-Carpio Munoz MD, MSc, FHRS , Siva Mulpuru MD, MPH, FHRS , Erin Luethe , Caitlin Carpenter , Charles Cagin MD , Kyle Liu , Jingjing Chen MD , Yong-Mei Cha MD, FHRS , Paul Friedman MD, FHRS , Xiaoke Liu MD, PhD","doi":"10.1016/j.hrthm.2024.07.112","DOIUrl":"10.1016/j.hrthm.2024.07.112","url":null,"abstract":"","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":"22 3","pages":"Pages 854-855"},"PeriodicalIF":5.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}