Deformation patterns in genotyped patients with hypertrophic cardiomyopathy
Deformation patterns in genotyped patients with hypertrophic cardiomyopathy
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DOI：
10.1093/ehjci/jet234
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发表时间：
2014-04-01
影响因子：
6.2
通讯作者：
Ackerman, Michael J.
中科院分区：
文献类型：
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作者：
Geske, Jeffrey B.;Bos, J. Martijn;Ackerman, Michael J.
超声心动图应变成像结合二维斑点追踪是一种新兴的工具，用于定义心脏功能和识别临床前肥厚型心肌病（HCM）。在HCM中，反向间隔轮廓是突变阳性肌节HCM的强预测因子。本研究的目的是确定是否左心室（LV）变形模式可以区分基因型阳性和阴性患者在一个大的HCM队列。（89例男性，年龄55 ± 15岁）临床诊断为HCM的患者接受了全面的经胸超声心动图检查，包括LV应变成像、LV尺寸和射血分数，隔膜轮廓和厚度，以及阻塞生理学的识别。纵向收缩期峰值应变从17个LV心肌节段进行评估，对患者的基因检测结果不知情，该基因检测结果来自9个肌丝HCM相关基因的综合基因分型。基因分型显示，51/131例（39%）为肌节/肌节-HCM突变阳性（基因型阳性）。与缺乏突变（基因型阴性）的HCM患者相比，基因型阳性患者中中下间隔中段（P = 0.004）、基底前间隔（P = 0.04）和基底下间隔段（P = 0.002）的区域应变较低。反曲型、基因型阳性HCM的菌株模式与基因型阴性、S形HCM的菌株模式在多个节段中存在显著差异。然而，当比较具有相同间隔形态的基因型阴性和基因型阳性患者时，没有显著的区域菌株差异。室间隔厚度与室间隔整体和基底纵向应变均呈正相关（r = 0.34和r = 0.54，P < 0.0001）。变形模式的表型表达出现异质性。
Aims Echocardiographic strain imaging with two-dimensional speckle tracking is an emerging tool for defining cardiac function and identifying preclinical hypertrophic cardiomyopathy (HCM). In HCM, a reverse septal contour is a strong predictor of mutation positive sarcomeric HCM. The objective of this study was to determine whether left ventricular (LV) deformation patterns can differentiate between genotype positive and negative patients within a large HCM cohort.Methods and results One hundred and thirty one patients (89 males, age 55 +/- 15 years) with clinically diagnosed HCM underwent comprehensive transthoracic echocardiography inclusive of LV strain imaging, LV dimensions and ejection fraction, septal contour and thickness, and identification of obstructive physiology. Longitudinal peak systolic strain was assessed from 17 LV myocardial segments blinded to the patient's genetic test results derived from comprehensive genotyping of nine myofilament HCM-associated genes. Genotyping revealed that 51 of 131 patients (39%) were mutation positive for sarcomeric/myofilament-HCM (genotype positive). Regional strain was lower in genotype-positive patients in mid inferoseptal (P = 0.004), basal anteroseptal (P = 0.04), and basal inferoseptal segments (P = 0.002) compared with HCM patients lacking a mutation (genotype negative). Strain patterns in reverse-curve, genotype-positive HCM differed significantly from genotype negative, sigmoidal HCM in multiple segments. However, when comparing genotype-negative and genotype-positive patients with the same septal morphology, there were no significant regional strain differences. Septal thickness positively correlated with global and basal anteroseptal longitudinal strain (r = 0.34 and r = 0.54, respectively, P < 0.0001).Conclusion Significant regional strain differences in genotyped HCM patients are dependent upon septal morphology or thickness, not genotype. Phenotypic expression of deformation patterns appears heterogeneous.