背景:许多遗传性非缺血性扩张型心肌病(NICM)引起室性心动过速(VT),其起源于被确定为低电描记图电压区域的瘢痕基质。基底位置变化,并且疤痕的原因没有明确定义。
目的:本研究评估了接受VT消融术的遗传性NICM患者的VT底物位置,以评估特定变体与底物位置之间的空间关系。
方法:在本回顾性病例系列分析中,32名患者(年龄55+/-16岁,94%男性,评估了2018年10月至2022年11月期间在单个医疗中心进行室性心动过速消融术的左心室射血分数34+/-13%)。疤痕位置定义为低单极/双极电压的区域。
结果:在评估的32例患者中,TTN突变(n=11/32),LMNA(32中的n=6),PKP2(32中的n=5),MYBPC3(n=3,共32个),DSP(32的n=2),TTR(n=1,共32个),FLNC(n=1,共32个),AGL(n=1,共32个),DES(n=1,共32个),DSG2(n=1/32),被观察到。与TTN突变相关的底物仅在基底亚区观察到,主要是前(100%),和间隔(50%)区域。LMNA突变与中下外侧(60%)和根尖下外侧(60%)区域的纤维化有关。仅在右心室观察到PKP2突变个体的底物位置,主要是基底下外侧区域。
结论:了解引起NICM的遗传变异与室性心动过速基底位置之间的空间关系有助于在室性心动过速中出现遗传相关NICM的患者中产生可推广的区域,可在消融过程中进行调查。
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.
CONCLUSIONS: 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.