Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
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DOI：
10.4065/81.4.459
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发表时间：
2006-04-01
影响因子：
8.9
通讯作者：
Ackerman, MJ
中科院分区：
文献类型：
--
作者：
Binder, J;Ommen, SR;Ackerman, MJ
目的：为了研究年龄之间的关系，中隔形态亚型，和肥厚型心肌病（HCM）相关myofilamentmutations.PATIENTS和METHODS：全面的突变分析8 HCM易感基因编码的心肌肌节的肌丝进行了先前在382无关的HCM患者。在对基因型状态不知情的情况下，我们使用超声心动图来描述左心室形态学特征。多变量回归分析用于评估形态亚型，临床资料和遗传variables.RESULTS：患者的平均SO年龄为4.1.6 +/- 19.0岁，126例患者50岁或以上的初步诊断之间的关系。中隔形态亚型为乙状型181例（47%），反向型132例（35%），心尖变异型37例（10%），中性型32例（13%）。在143例患者（37%）中鉴定出HCM相关的肌钙蛋白突变。多变量分析显示，反曲间隔形态亚型是基因型阳性状态的强预测因子（比值比，21; P
OBJECTIVE: To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations.PATIENTS AND METHODS: Comprehensive mutation analysis of the 8 HCM susceptibility genes that encode the myofilaments of the cardiac sarcomere was performed previously In 382 unrelated patients with HCM. Blinded to genotype status, we used echocardiography to characterize the left ventricular morphological features. Multivariate regression was used to assess the relationship among morphological subtypes, clinical data, and genetic variables.RESULTS: The mean SO age of the patients was 4.1.6 +/- 19.0 years, with 126 patients 50 years or older at initial diagnosis. The septal morphological subtype was sigmoid In 181 (47%), reverse In 132 (35%), apical variant In 37 (10%), and neutral In 32 (13%). The HCM-associated myofliament mutations were Identified in 143 patients (37%). Multivariate analysis showed that the reverse curvature septal morphological subtype was a strong predictor of genotype-positive status (odds ratio, 21; P