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

作　　者：王淼[1] 孙俊 朱军义 王多顺 谢妙灵 林子怡 张维 WANG Miao;SUN Jun;ZHANG Wei(Department of Cardiology,Xianning Central Hospital,The First Affiliated Hospital of Hubei University of Science And Technology,Xianning Hubei 437100,China)

机构地区：[1]咸宁市中心医院/湖北科技学院附属第一医院心内科,湖北咸宁437100 [2]崇阳县人民医院重症医学科 [3]咸宁市妇幼保健院麻醉科 [4]湖北科技学院医学部基础医学院 [5]咸宁市中心医院I期临床研究中心

出　　处：《湖北科技学院学报(医学版)》2025年第1期33-38,共6页Journal of Hubei University of Science and Technology(Medical Sciences)

基　　金：2021年咸宁市市级科技计划——自然科学基金项目(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)。

摘　　要：目的回顾性分析咸宁市扩张型心肌病(DCM)和肥厚型心肌病(HCM)患者的临床特征,以揭示该地区两种类型心肌病患者的特点。识别患者的致病性遗传变异,为临床诊断和遗传咨询提供科学依据。方法收集咸宁市中心医院收治的心肌病患者的临床数据,使用SPSS 26.0软件分析。并进行全外显子组测序(WES),评估候选变异的致病性。结果纳入255例患者,DCM 121例,HCM 134例。DCM组男性占比高(78.5%),心功能分级较差。DCM患者左室射血分数降低率高于HCM患者。DCM组B型血浆脑钠肽(BNP)水平显著升高。WES发现4个致病突变,包括一个新突变MYBPC3 c.2669G>A(NM_000256.3)。结论及时进行WES与密切监测BNP水平、心功能分级,可以为心肌病的早期诊断及个体化治疗提供帮助。Objective To retrospectively analyze the clinical characteristics and treatment interventions of patients with dilated 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 basis 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 DCM and 134 cases of HCM.The DCM group 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 patients.The levels of B-type Natriuretic Peptide(BNP)in the DCM group were significantly elevated.WES identified four pathogenic 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 

分 类 号：R446.11[医药卫生—诊断学]