Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry.
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DOI：
10.3390/genes12101469
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发表时间：
2021-09-23
期刊：
影响因子：
3.5
通讯作者：
Verheyen N
中科院分区：
文献类型：
--
作者：
Höller V;Seebacher H;Zach D;Schwegel N;Ablasser K;Kolesnik E;Gollmer J;Waltl G;Rainer PP;Verheyen S;Zirlik A;Verheyen N
越来越多的证据表明，携带 MYH7 突变的肌节肥厚型心肌病 (HCM) 患者的预后可能比 MYBPC3 突变携带者的预后更差。心肌变形分析在检测细微心肌功能障碍和疤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，我们的目的是将 MYBPC3 和 MYH7 突变携带者的心肌应变参数与已证实的 HCM 进行比较。前瞻性格拉茨 HCM 登记处的参与者均携带至少一种 MYBPC3 (n = 39) 或 MYH7 (n = 18) 致病突变。 MYBPC3 突变携带者年龄较大，主要是男性，并且更经常接受植入式心律转复除颤器治疗（39% vs. 0%；p = 0.002）。通过协方差分析，MYBPC3 和 MYH7 突变携带者在左心室整体纵向应变（估计边际平均值±标准差：-16.9 ± 0.6% vs. -17.3 ± 0.9%；p = 0.807）和右心室 6 段心内膜应变（-24.3 ± 1.0% vs. 26.3 ±）方面没有显着差异。 1.5%；p = 0.285)。我们的研究表明，心肌变形分析可能无助于得出潜在的 HCM 基因型，反之亦然。
Accumulating evidence suggests that individuals with sarcomeric hypertrophic cardiomyopathy (HCM) carrying MYH7 mutations may have a worse prognosis than MYBPC3 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 MYBPC3 and MYH7 mutation carriers with proven HCM. Participants of the prospective Graz HCM Registry carrying at least one causative mutation in MYBPC3 (n = 39) or MYH7 (n = 18) were enrolled. MYBPC3 mutation carriers were older, predominantly male and more often treated with an implantable cardioverter-defibrillator (39% vs. 0%; p = 0.002). Using analyses of covariance, there were no significant differences between MYBPC3 and MYH7 mutation carriers with regard to left ventricular global longitudinal strain (estimated marginal means ± standard deviation: −16.9 ± 0.6% vs. −17.3 ± 0.9%; p = 0.807) and right ventricular 6-segments endocardial strain (−24.3 ± 1.0% vs. 26.3 ± 1.5%; p = 0.285). Our study suggests, that myocardial deformation analysis may not be helpful in concluding on the underlying HCM genotype, and vice versa.
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影响因子：
39.3
作者：
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