湖北科技学院学报（医学版）2025，Vol.39Issue(1)：33-38,6.DOI:10.16751/j.cnki.2095-4646.2024101812
咸宁市不同类型心肌病患者临床特征及致病基因分析
Clinical Characteristics and Pathogenic Gene Analysis of Patients with Different Types of Cardiomyopathy Disease in Xianning City
摘要
Abstract
Objective To retrospectively analyze the clinical characteristics and treatment interventions of patients with di-lated cardiomyopathy(DCM)and hypertrophic cardiomyopathy(HCM)in Xianning city to reveal the characteristics of patients with the two types of cardiomyopathy in the region,and to identify the pathogenic genetic variations of patients to provide a scientific ba-sis for clinical diagnosis and genetic counseling.Methods Clinical data from the patients who admitted to the Xianning Central Hospital from January 2021 to August 2024 with cardiomyopathy were collected and analyzed using SPSS 26.0 software.Whole Exome Sequencing(WES)was performed to assess the pathogenicity of candidate variations.Results A total of 255 patients were included,with 121 cases of DCMand 134 cases of HCM.The DCMgroup had a higher proportion of males(78.5%)and poorer heart function classification.The rate of reduced left ventricular ejection fraction in DCM patients was higher than in HCM pa-tients.The levels of B-type Natriuretic Peptide(BNP)in the DCMgroup were significantly elevated.WES identified fourpathogenic mutations,including a novel mutation MYBPC3 c.2669G＞A(NM_000256.3).Conclusion Timely WES and close monitoring of BNP levels and cardiac function classification can help with early diagnosis and individualized treatment of cardiomyopathy.关键词
扩张型心肌病/肥厚型心肌病/临床特征/基因检测Key words
Dilated cardiomyopathy/Hypertrophic cardiomyopathy/Clinical characteristics/Genetic testing分类
临床医学引用本文复制引用
王淼,孙俊,朱军义,王多顺,谢妙灵,林子怡,张维..咸宁市不同类型心肌病患者临床特征及致病基因分析[J].湖北科技学院学报（医学版）,2025,39(1):33-38,6.基金项目
2021年咸宁市市级科技计划——自然科学基金项目(2021ZRKX036) （2021ZRKX036）
2018年咸宁市中心医院同济咸宁医院院级科研项目-院级重点项目(2018XYA009) （2018XYA009）
