Distribution of myocardial fibrosis in patients with nonischemic cardiomyopathy and ventricular tachycardia based on genetic variant.

IF 5.6 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Heart rhythm Pub Date : 2025-01-01 Epub Date: 2024-06-28 DOI:10.1016/j.hrthm.2024.06.047

Nicholas Weinand, Tiffany Hu, Kanae Hasegawa, Arvind Kanagasundram, Harikrishna Tandri, William Stevenson, Travis Richardson

{"title":"Distribution of myocardial fibrosis in patients with nonischemic cardiomyopathy and ventricular tachycardia based on genetic variant.","authors":"Nicholas Weinand, Tiffany Hu, Kanae Hasegawa, Arvind Kanagasundram, Harikrishna Tandri, William Stevenson, Travis Richardson","doi":"10.1016/j.hrthm.2024.06.047","DOIUrl":null,"url":null,"abstract":"Background: Many genetic nonischemic dilated cardiomyopathies (NICMs) cause ventricular tachycardias (VTs) originating from scar substrate identified as areas of low electrogram voltage. Substrate locations vary, and the causes of scar are not well defined.Objective: This study evaluated VT substrate locations in genetic NICM patients undergoing VT ablation to evaluate spatial relationships between specific variants and substrate locations.Methods: In this retrospective case series analysis, 32 patients (aged 55 ± 16 years; 94% male; left ventricular ejection fraction, 34% ± 13%) with genetic NICM referred for VT ablation between October 2018 and November 2022 at a single medical center were evaluated. Scar locations were defined as areas of low unipolar or bipolar voltage.Results: Of the 32 patients evaluated, mutations in TTN (n = 11), LMNA (n = 6), PKP2 (n = 5), MYBPC3 (n = 3), DSP (n = 2), TTR (n = 1), FLNC (n = 1), AGL (n = 1), DES (n = 1), and DSG2 (n = 1) were observed. Substrates associated with mutations in TTN were observed only in basal subregions, predominantly anterior (100%) and septal (50%) regions. LMNA mutations were associated with fibrosis in mid inferolateral (60%) and apical inferolateral (60%) regions. Substrate location for individuals with PKP2 mutations was solely observed in the right ventricle, predominantly basal inferolateral regions.Conclusion: Understanding spatial relationships between genetic variants causing NICM and VT substrate locations can help lead to generalizable regions in patients with genetically related NICM presenting in VT, which can be investigated during ablation procedures.","PeriodicalId":12886,"journal":{"name":"Heart rhythm","volume":" ","pages":"100-105"},"PeriodicalIF":5.6000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Heart rhythm","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.hrthm.2024.06.047","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/28 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Many genetic nonischemic dilated cardiomyopathies (NICMs) cause ventricular tachycardias (VTs) originating from scar substrate identified as areas of low electrogram voltage. Substrate locations vary, and the causes of scar are not well defined.

Objective: This study evaluated VT substrate locations in genetic NICM patients undergoing VT ablation to evaluate spatial relationships between specific variants and substrate locations.

Methods: In this retrospective case series analysis, 32 patients (aged 55 ± 16 years; 94% male; left ventricular ejection fraction, 34% ± 13%) with genetic NICM referred for VT ablation between October 2018 and November 2022 at a single medical center were evaluated. Scar locations were defined as areas of low unipolar or bipolar voltage.

Results: Of the 32 patients evaluated, mutations in TTN (n = 11), LMNA (n = 6), PKP2 (n = 5), MYBPC3 (n = 3), DSP (n = 2), TTR (n = 1), FLNC (n = 1), AGL (n = 1), DES (n = 1), and DSG2 (n = 1) were observed. Substrates associated with mutations in TTN were observed only in basal subregions, predominantly anterior (100%) and septal (50%) regions. LMNA mutations were associated with fibrosis in mid inferolateral (60%) and apical inferolateral (60%) regions. Substrate location for individuals with PKP2 mutations was solely observed in the right ventricle, predominantly basal inferolateral regions.

Conclusion: Understanding spatial relationships between genetic variants causing NICM and VT substrate locations can help lead to generalizable regions in patients with genetically related NICM presenting in VT, which can be investigated during ablation procedures.

查看原文本刊更多论文

基于基因变异的非缺血性心肌病和室性心动过速患者心肌纤维化的分布情况

背景：许多遗传性非缺血性扩张型心肌病（NICM）导致的室性心动过速（VT）源于瘢痕基底（即低电图电压区域）。基底的位置各不相同，瘢痕的成因也不十分明确：本研究评估了接受 VT 消融术的遗传性 NICM 患者的 VT 基底位置，以评估特定变异与基底位置之间的空间关系：在这项回顾性病例系列分析中，对 2018 年 10 月至 2022 年 11 月期间在一家医疗中心转诊接受 VT 消融术的 32 例遗传性 NICM 患者（年龄 55 +/- 16 岁，94% 为男性，左室射血分数 34 +/- 13%）进行了评估。疤痕位置被定义为单极/双极电压低的区域：在接受评估的32例患者中，观察到TTN（32例中的11例）、LMNA（32例中的6例）、PKP2（32例中的5例）、MYBPC3（32例中的3例）、DSP（32例中的2例）、TTR（32例中的1例）、FLNC（32例中的1例）、AGL（32例中的1例）、DES（32例中的1例）、DSG2（32例中的1例）的突变。与TTN突变相关的基质只出现在基底亚区，主要是前区（100%）和隔区（50%）。LMNA突变与内外侧中部（60%）和内外侧顶部（60%）区域的纤维化有关。PKP2突变个体的基质位置仅在右心室观察到，主要是基底内外侧区域：结论：了解导致 NICM 的基因变异与 VT 基底位置之间的空间关系，有助于为出现 VT 的遗传相关 NICM 患者找到可归纳的区域，以便在消融过程中进行研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Heart rhythm 医学-心血管系统

CiteScore

10.50

自引率

5.50%

发文量

1465

审稿时长

24 days

期刊介绍： HeartRhythm, the official Journal of the Heart Rhythm Society and the Cardiac Electrophysiology Society, is a unique journal for fundamental discovery and clinical applicability. HeartRhythm integrates the entire cardiac electrophysiology (EP) community from basic and clinical academic researchers, private practitioners, engineers, allied professionals, industry, and trainees, all of whom are vital and interdependent members of our EP community. The Heart Rhythm Society is the international leader in science, education, and advocacy for cardiac arrhythmia professionals and patients, and the primary information resource on heart rhythm disorders. Its mission is to improve the care of patients by promoting research, education, and optimal health care policies and standards.