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• W4377011294 abstract "Objective: To observe the association between clinical phenotypes of hypertrophic cardiomyopathy (HCM) patients and a rare calcium channel and regulatory gene variation (Ca2+ gene variation) and to compare clinical phenotypes of HCM patients with Ca2+ gene variation, a single sarcomere gene variation and without gene variation and to explore the influence of rare Ca2+ gene variation on the clinical phenotypes of HCM. Methods: Eight hundred forty-two non-related adult HCM patients diagnosed for the first time in Xijing Hospital from 2013 to 2019 were enrolled in this study. All patients underwent exon analyses of 96 hereditary cardiac disease-related genes. Patients with diabetes mellitus, coronary artery disease, post alcohol septal ablation or septal myectomy, and patients who carried sarcomere gene variation of uncertain significance or carried>1 sarcomere gene variation or carried>1 Ca2+ gene variation, with HCM pseudophenotype or carrier of ion channel gene variations other than Ca2+ based on the genetic test results were excluded. Patients were divided into gene negative group (no sarcomere or Ca2+ gene variants), sarcomere gene variation group (only 1 sarcomere gene variant) and Ca2+ gene variant group (only 1 Ca2+ gene variant). Baseline data, echocardiography and electrocardiogram data were collected for analysis. Results: A total of 346 patients were enrolled, including 170 patients without gene variation (gene negative group), 154 patients with a single sarcomere gene variation (sarcomere gene variation group) and 22 patients with a single rare Ca2+ gene variation (Ca2+ gene variation group). Compared with gene negative group, patients in Ca2+ gene variation group had higher blood pressure and higher percentage of family history of HCM and sudden cardiac death (P<0.05); echocardiographic results showed that patients in Ca2+ gene variation group had thicker ventricular septum ((23.5±5.8) mm vs. (22.3±5.7) mm, P<0.05); electrocardiographic results showed that patients in Ca2+ gene variation group had prolonged QT interval ((416.6±23.1) ms vs. (400.6±47.2) ms, P<0.05) and higher RV5+SV1 ((4.51±2.26) mv vs. (3.50±1.65) mv, P<0.05). Compared with sarcomere gene variation group, patients in Ca2+ gene variation group had later onset age and higher blood pressure (P<0.05); echocardiographic results showed that there was no significant difference in ventricular septal thickness between two groups; patients in Ca2+ gene variation group had lower percentage of left ventricular outflow tract pressure gradient>30 mmHg (1 mmHg=0.133 kPa, 22.8% vs. 48.1%, P<0.05) and the lower early diastolic peak velocity of the mitral valve inflow/early diastolic peak velocity of the mitral valve annulus (E/e') ratio ((13.0±2.5) vs. (15.9±4.2), P<0.05); patients in Ca2+ gene variation group had prolonged QT interval ((416.6±23.1) ms vs. (399.0±43.0) ms, P<0.05) and lower percentage of ST segment depression (9.1% vs. 40.3%, P<0.05). Conclusion: Compared with gene negative group, the clinical phenotype of HCM is more severe in patients with rare Ca2+ gene variation; compared with patients with sarcomere gene variation, the clinical phenotype of HCM is milder in patients with rare Ca2+ gene variation.目的： 比较中国人群中携带单个罕见钙通道及调控基因变异（Ca2+基因变异）的肥厚型心肌病（HCM）患者与携带单个肌小节基因变异及不携带基因变异的HCM患者临床表型的差异，探索罕见Ca2+基因变异对HCM临床表型的影响。 方法： 选取2013—2019年在西京医院首次确诊的无血缘关系的成人HCM患者842例，进行96个遗传性心脏疾病相关基因检测。排除糖尿病、冠心病、酒精消融术及室间隔肌切除术后的患者，再根据基因检测结果排除携带意义不明的肌小节基因变异、携带>1个肌小节基因变异、携带>1个Ca2+基因变异、患有HCM拟表型以及携带除Ca2+以外的其他离子通道基因变异的患者。根据基因检测结果将患者分为基因变异阴性组（未携带肌小节基因变异及离子通道相关基因变异）、肌小节基因变异组（仅携带1个肌小节基因变异）和Ca2+基因变异组（仅携带1个罕见Ca2+基因变异），收集3组患者的常规资料、超声心动图以及心电图资料进行分析。 结果： 最终纳入346例HCM患者，其中基因变异阴性组170例、肌小节基因变异组154例、Ca2+基因变异组22例。与基因变异阴性组相比，Ca2+基因变异组收缩压较高，有猝死家族史及HCM家族史的比例较高（P均<0.05）；超声结果显示Ca2+基因变异组室间隔厚度较厚［（23.5±5.8）mm比（22.3±5.7）mm，P<0.05］；心电图结果显示Ca2+基因变异组QT间期较长［（416.6±23.1）ms比（400.6±47.2）ms，P<0.05］，RV5+SV1振幅较高［（4.51±2.26）mv比（3.50±1.65）mv，P<0.05］。与肌小节基因变异组相比，Ca2+基因变异组初诊年龄较大，血压较高（P均<0.05）；超声结果显示两组患者室间隔厚度差异无统计学意义，Ca2+基因变异组左心室流出道压差>30 mmHg（1 mmHg=0.133 kPa）的比例较低（22.8%比48.1%，P<0.05），二尖瓣口舒张早期峰值流速/二尖瓣环室间隔侧测量舒张早期峰值速度（E/e′）比值较小［13.0±2.5比15.9±4.2，P<0.05］；心电图结果显示Ca2+基因变异组QT间期较长［（416.6±23.1）ms比（399.0±43.0）ms，P<0.05］，ST段压低的比例较低（9.1%比40.3%，P<0.05）。 结论： 与基因变异阴性HCM患者相比，罕见Ca2+基因变异HCM患者的临床表型相对较重；与肌小节基因变异HCM患者相比，罕见Ca2+基因变异HCM患者的临床表型相对较轻。." @default.
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• W4377011294 date "2023-05-24" @default.
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• W4377011294 title "[Association between clinical phenotypes of hypertrophic cardiomyopathy and Ca2+ gene variation gene variation]." @default.
• W4377011294 doi "https://doi.org/10.3760/cma.j.cn112148-20220714-00547" @default.
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