Heart and Vascular Center of Semmelweis University, Budapest, Hungary.
Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
PLoS One. 2024 Sep 5;19(9):e0308035. doi: 10.1371/journal.pone.0308035. eCollection 2024.
Cardiac rotational parameters in primary symptomatic left ventricular noncompaction (LVNC) with preserved left ventricular ejection fraction (LVEF) are not well understood. We aimed to analyze cardiac rotation measured with cardiac magnetic resonance feature-tracking (CMR-FT) and speckle-tracking echocardiography (Echo-ST) in LVNC morphology subjects with preserved LVEF and different genotypes and healthy controls.
Our retrospective study included 54 LVNC subjects with preserved LVEF and 54 control individuals. We evaluated functional and rotational parameters with CMR in the total study population and with echocardiography in 39 LVNC and 40 C individuals. All LVNC subjects were genotyped with a 174-gene next-generation sequencing panel and grouped into the subgroups: benign (B), variant of uncertain significance (VUS), and pathogenic (P).
In comparison with controls, LVNC subjects had reduced apical rotational degree (p = 0.004) and one-third had negative apical rotation. While the degree of apical rotation was comparable between the three genetic subgroups, they differed significantly in the direction of apical rotation (p<0.001). In contrast to control and B groups, all four studied cardiac rotational patterns were identified in the P and VUS subgroups, namely normal rotation, positive and negative rigid body rotation, and reverse rotation. When the CMR-FT and Echo-ST methods were compared, the direction and pattern of cardiac rotation had moderate to good association (p<0.001) whereas the rotational degrees showed no reasonable correlation or agreement.
While measuring cardiac rotation using both CMR-FT and Echo-ST methods, subclinical mechanical differences were identified in subjects with LVNC phenotype and preserved LVEF, especially in cases with genetic involvement.
原发性有症状左心室心肌致密化不全（LVNC）伴左心室射血分数（LVEF）保留患者的心脏旋转参数尚未得到充分认识。我们旨在分析伴有保留的 LVEF 和不同基因型的 LVNC 形态患者以及健康对照者应用心脏磁共振特征追踪（CMR-FT）和斑点追踪超声心动图（Echo-ST）测量的心脏旋转。
我们的回顾性研究纳入了 54 例伴有保留的 LVEF 的 LVNC 患者和 54 例对照者。我们在总研究人群中用 CMR 评估功能和旋转参数，在 39 例 LVNC 和 40 例对照者中用超声心动图评估。所有 LVNC 患者均采用 174 基因下一代测序面板进行基因分型，并分为良性（B）、意义不明的变异（VUS）和致病性（P）亚组。
与对照组相比，LVNC 患者的心尖旋转角度减小（p=0.004），其中 1/3 的患者心尖旋转为负向。虽然三个基因亚组的心尖旋转角度相似，但心尖旋转方向存在显著差异（p<0.001）。与对照组和 B 组不同，P 组和 VUS 组中均发现了四种研究的心脏旋转模式，即正常旋转、正向和负向刚体旋转以及反向旋转。与 CMR-FT 相比，Echo-ST 方法在测量心脏旋转时，旋转方向和模式具有中到高度的相关性（p<0.001），而旋转角度则没有合理的相关性或一致性。
在使用 CMR-FT 和 Echo-ST 方法测量心脏旋转时，LVNC 表型和保留 LVEF 的患者存在亚临床机械差异，特别是在有遗传参与的情况下。
