Kovacs Boldizsar, Ghannam Michael, Liang Jackson, Moccoro Emmeline, Attili Anil, Cochet Hubert, Helms Adam, Latchamsetty Rakesh, Jongnarangsin Krit, Morady Fred, Bogun Frank
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Department of Radiology, University of Michigan, Ann Arbor, Michigan, USA.
J Cardiovasc Electrophysiol. 2023 Sep;34(9):1835-1842. doi: 10.1111/jce.16039. Epub 2023 Aug 14.
Variants of cardiomyopathy genes in patients with nonischemic cardiomyopathy (NICM) generate various phenotypes of cardiac scar and delayed enhancement cardiac magnetic resonance (DE-CMR) imaging which may impact ventricular tachycardia (VT) management.
The objective was to compare the findings of cardiomyopathy genetic testing on DE-CMR imaging and long-term outcomes among patients with NICM undergoing VT ablation procedures. Image phenotyping and genotyping were performed in a consecutive series of patients referred for VT ablation and correlated to survival free of VT. Scar depth index (SDI) (% of scar at 0-3 mm, 3-5 mm and >5 mm projected on the closest endocardial surface) was determined.
Forty-three patients were included (11 women, 55 ± 14 years, ejection fraction (EF) 45 ± 16%) and were followed for 3.4 ± 2.9 years. Pathogenic variants (PV) were identified in 16 patients (37%) in the following genes: LMNA (n = 5), TTN (n = 5), DSP (n = 2), AMLS1 (n = 1), MYBPC3 (n = 1), PLN (n = 1), and SCN5A (n = 1). A ring-like septal scar (RLSS) pattern was more often seen in patients with pathogenic variants (66% vs 15%, p = .001). RLSS was associated with deeper seated scars (SDI >5 mm 30.6 ± 22.6% vs 12.4 ± 16.2%, p = .005), and increased VT recurrence (HR 5.7 95% CI[1.8-18.4], p = .003). After adjustment for age, sex, EF, and total scar burden, the presence of a PV remained independently associated with worse outcomes (HR 4.7 95% CI[1.22-18.0], p = .02).
Preprocedural genotyping and scar phenotyping is beneficial to identify patients with a favorable procedural outcome. Some PVs are associated with an intramural, deeper seated scar phenotype and have an increase of VT recurrence after ablation.
非缺血性心肌病（NICM）患者的心肌病基因变异会产生各种心脏瘢痕表型和延迟强化心脏磁共振（DE-CMR）成像表现，这可能会影响室性心动过速（VT）的治疗。
目的是比较接受VT消融手术的NICM患者中，心肌病基因检测在DE-CMR成像上的结果以及长期预后。对一系列连续的接受VT消融治疗的患者进行图像表型分析和基因分型，并与无VT生存情况相关联。确定瘢痕深度指数（SDI）（0-3mm、3-5mm和>5mm的瘢痕占最接近心内膜表面投影的百分比）。
纳入43例患者（11例女性，年龄55±14岁，射血分数（EF）45±16%），随访3.4±2.9年。在16例患者（37%）中鉴定出致病变异（PV），涉及以下基因：LMNA（n=5）、TTN（n=5）、DSP（n=2）、AMLS1（n=1）、MYBPC3（n=1）、PLN（n=；1）和SCN5A（n=1）。致病变异患者更常出现环状间隔瘢痕（RLSS）模式（66%对15%，p=0.001）。RLSS与更深的瘢痕相关（SDI>5mm，30.6±22.6%对12.4±16.2%，p=0.005），且VT复发增加（HR 5.7，95%CI[1.8-18.4]，p=0.003）。在调整年龄、性别、EF和总瘢痕负荷后，PV的存在仍与较差的预后独立相关（HR 4.7，95%CI[1.22-18.0]，p=0.02）。
术前基因分型和瘢痕表型分析有助于识别手术预后良好的患者。一些PV与壁内、更深的瘢痕表型相关，且消融后VT复发增加。
