Division of Cardiology, Department of Internal Medicine, Medical University of Graz, 8036 Graz, Austria.
Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.
Genes (Basel). 2021 Sep 23;12(10):1469. doi: 10.3390/genes12101469.
Accumulating evidence suggests that individuals with sarcomeric hypertrophic cardiomyopathy (HCM) carrying mutations may have a worse prognosis than mutation carriers. Myocardial deformation analysis is superior to standard echocardiography in detecting subtle myocardial dysfunction and scar formation, but studies evaluating the association with HCM genotype are scarce. We therefore aimed to compare myocardial strain parameters between and mutation carriers with proven HCM. Participants of the prospective Graz HCM Registry carrying at least one causative mutation in ( = 39) or ( = 18) were enrolled. mutation carriers were older, predominantly male and more often treated with an implantable cardioverter-defibrillator (39% vs. 0%; = 0.002). Using analyses of covariance, there were no significant differences between and mutation carriers with regard to left ventricular global longitudinal strain (estimated marginal means ± standard deviation: -16.9 ± 0.6% vs. -17.3 ± 0.9%; = 0.807) and right ventricular 6-segments endocardial strain (-24.3 ± 1.0% vs. 26.3 ± 1.5%; = 0.285). Our study suggests, that myocardial deformation analysis may not be helpful in concluding on the underlying HCM genotype, and vice versa.
越来越多的证据表明,携带肌节肥厚型心肌病(HCM)突变的个体比突变携带者的预后更差。心肌变形分析在检测细微的心肌功能障碍和瘢痕形成方面优于标准超声心动图,但评估与 HCM 基因型关联的研究很少。因此,我们旨在比较明确诊断为 HCM 的 和 突变携带者的心肌应变参数。前瞻性格拉茨 HCM 注册研究的参与者至少携带一个在 (=39)或 (=18)中的致病突变。突变携带者年龄较大,主要为男性,更常接受植入式心脏复律除颤器(39%比 0%;=0.002)治疗。使用协方差分析,在左心室整体纵向应变方面, 和 突变携带者之间没有显著差异(估计边缘均值±标准差:-16.9±0.6%比-17.3±0.9%;=0.807)和右心室 6 节段心内膜应变(-24.3±1.0%比 26.3±1.5%;=0.285)。我们的研究表明,心肌变形分析可能无助于确定潜在的 HCM 基因型,反之亦然。